SNPMiner Trials by Shray Alag


SNPMiner Trials: SNP Report


Report for SNP rs9939609

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

There are 10 clinical trials

Clinical Trials


1 The Role of FTO Gene Polymorphism and Insulin Preparation in Overweight/Obesity in Children With Type 1 Diabetes Mellitus

The project aims at assessment of the effect of the FTO gene polymorphism and the type of treatment on the development of overweight/obesity and features of metabolic syndrome in children with type 1 diabetes. Gene polymorphism including some genetic variants may predispose to the development of cardiovascular diseases and their complications. The A allele of the FTO gene predisposing to obesity occurs in approximately 40% of the European population and each copy of this allele can increase BMI by 0.1 Z-score i.e. by 0.4 kg/m2. Insulin therapy in diabetic patients may result in excess body weight gain. Therefore we need studies involving large groups of children and assessing cardiovascular risk factors in type 1 diabetes along with their genetic associations. Patients: The study will include 1500 children with type 1 diabetes, aged 6-18 years. Reference group will be made of 1500 children in whom type 1 diabetes was excluded. The following variables will be assessed in the treatment group: 1) Anthropometric data and questionnaire data: age, sex, body height and weight, body mass index (BMI), waist and hip circumferences, arm and thigh circumferences, family history of overweight/obesity, type 1 or 2 diabetes or cardiovascular disease, 2) Primary disease characteristics: age of the disease onset, treatment regimen, mean daily insulin consumption per kg body weight, brands of insulin products, glycated haemoglobin, BMI from the first 3-6 months following diabetes onset, diet, conversion of these data into actual and ideal calorie intake 3) Laboratory data - lipid profile and blood pressure (average of three measurements). Methodology: Gene polymorphism analysis in the extracted DNA will be made with the real-time PCR method using TaqMan 7900 HT by Applied Biosystems. Correlations between the FTO gene polymorphism and clinical variables such as BMI (including BMI increase since the disease onset), body weight and height, waist and hip circumferences, arm and thigh circumferences, and blood pressure will be assessed by a professional statistician with a specially dedicated software. Moreover parameters such as diet and metabolic control will be assessed. As regards insulin therapy the following variables will be analysed: insulin injection device, therapy regimen (intensive versus functional; brands and types of insulin products: human insulin versus insulin analogue), consumption of insulin. All of the above listed variables will be correlated with the genotypes found in the gene polymorphism analysis. The study has been approved by Bioethics Committee of the Medical University in Białystok. Results: The authors of the project expect that the effect of the FTO gene polymorphism on overweight/obesity and features of metabolic syndrome in children with type 1 diabetes will be shown. Moreover the project will enable assessment of the effect of the therapeutic regimen, including the type of insulin product, on body weight increase in the course of type 1 diabetes treatment in the context of the FTO gene polymorphism. Confirmation of the above associations and identification of a group at risk of excess body weight increase in the course of insulin therapy may help physicians, parents and patients to avoid this complication. Therefore clinical benefit of this project will include identification - based on the genetic assays results - of a group of type 1 diabetic children particularly likely to develop overweight, obesity and other cardiovascular risk factors.

NCT01279161 Type 1 Diabetes Mellitus
MeSH: Diabetes Mellitus Obesity Diabetes Mellitus, Type 1 Pediatric Obesity
HPO: Diabetes mellitus Obesity Type I diabetes mellitus

Particular objective of the project is providing an answer to the question: Are type 1 diabetic children who are carriers of the AA genotype of the FTO gene polymorphism (rs9939609) at risk of more weight gain in the course of insulin therapy when compared to carriers of the TA and TT genotypes of this polymorphism ?

Primary Outcomes

Measure: Identification of the effect of the FTO gene polymorphism on the development of overweight/obesity in insulin treated children

Time: one year

Secondary Outcomes

Measure: • Identification of the effect of the following factors: sex, age, duration of disease, therapy regimen, type of insulin product and degree of metabolic control on the development of overweight/ obesity in insulin treated children

Time: one year

Measure: • Identification of the effect of genetic polymorphism of the FTO gene on the incidence of metabolic syndrome features in insulin treated children.

Time: one year

Measure: • Identification of the effect of genetic polymorphism of the FTO gene on the incidence of overweight, obesity and metabolic syndrome features in children without diabetes.

Time: one year

Measure: • Comparison of frequency distribution of FTO gene polymorphism involved in the pathogenesis of obesity in children with diabetes versus children without diabetes.

Time: one year

2 Comparison of the Effect of MediterrAsian Diet With Two Different Calorie Restriction on Anthropometric Indices in Carriers of FTO rs9939609 Polymorphism With Overweigh: Toward Personalized Nutrition

Background: Obesity treatment should be individualized since some calorie restricted diet doesn't work for some individuals. Objective: we assess the effect of two different calorie restriction with MediterrAsian diet on weight loss of FTO rs9939609 carriers with overweight. Methods: we recruit 80 healthy overweight participants aged 20-45 years that randomly allocated in two interventional group [group 1: Mediterrasian diet according to adjusted ideal body weight with 500 calories restriction (RD) and group 2: without 500 calories restriction (NRD)+ Moderate physical activity]. Anthropometric indices will be assesses for all participants weekly for two month. The criteria for weight loss is 250-500 grams weekly. Metabolic indices, physical activity and psychologic aspects will be assesses at baseline and the end of the intervention. Dietary adherence will be checked by 24hr recalls at day 0, 30 and 60. At the end of the study, we compare carriers with different alleles (AA+TA and TT) in two intervention groups to find out which calorie restriction is appropriate for each genotype. Significant p-value is less than 0.05.

NCT02940197 Obesity Dietary Modification Behavioral: MediterrAsian diet

Comparison of the Effect of MediterrAsian Diet With Two Different Calorie Restriction on Anthropometric Indices in Carriers of FTO rs9939609 Polymorphism With Overweigh: Toward Personalized Nutrition.

Comparison of Two Calorie Restricted MediterrAsian Diet on Weight Loss in FTO rs9939609 Overweight Carriers Background: Obesity treatment should be individualized since some calorie restricted diet doesn't work for some individuals.

Objective: we assess the effect of two different calorie restriction with MediterrAsian diet on weight loss of FTO rs9939609 carriers with overweight.

Primary Outcomes

Measure: weight loss

Time: 2 months

3 Effects of Exercise Intervention and Confounding Factors on Type II Diabetic Muscles

The aim of the first year of this three-year plan is to analyze and compare the muscle quality of lower limb muscle (microcirculation, muscle performance and mechanical characteristics) and maximal aerobic exercise capacity in treadmill exercise tests for diabetic and non-diabetic cases. The hypotheses are:1) the muscle quality of lower limb muscle and maximal aerobic exercise capacity are different between participate with diabetic and non-diabetic, 2) the effect of the three-month aerobic exercise intervention or home exercise on the characteristics of the muscle quality are different , and 3) intrinsic factors (such as age, BMI, and HDL) and characteristics of specific FTO genes are influenced the training outcomes.

NCT03869411 Diabetes and Healthy Control FTO Gene Expression Aerobic Exercise Intervention or Home Exercise Pre-training and Post-training Behavioral: supervised aerobic exercise or home-based aerobic exercise

rs9939609 SNP analysis, record as TT or TA or AA type.

Primary Outcomes

Description: elastography was used, units on kPa

Measure: index of muscle stiffness

Time: Change from Baseline muscle quality at 3 months

Description: Dynamometer was used to measure muscle strength, units on kilograms

Measure: muscle strength of knee extensor and plantarflexor

Time: Change from Baseline functional performance at 3 months

Description: B mode sonography was used, units on mm/s

Measure: Relative sliding of muscles

Time: Change from Baseline muscle quality at 3 months

Description: Near-infrared spectroscopy was used to measure oxygen saturation on muscle, units on percentage

Measure: muscle microcirculation

Time: Change from Baseline muscle quality at 3 months

Description: Bruce treadmill protocol was used in the maximal exercise testing, maximum rate of oxygen consumption record as ml/kg/min

Measure: maximum rate of oxygen consumption

Time: Baseline

Secondary Outcomes

Description: rs9939609 SNP analysis, record as TT or TA or AA type

Measure: characteristics of specific FTO genes

Time: Baseline

Description: self report the ability of walking one-fourth of a mile, record as degree of difficulty: none, some difficulty, much difficulty, inability

Measure: physical activity level

Time: Change from Baseline functional performance at 3 months

Description: weight and height will be combined to report BMI in kg/m^2

Measure: BMI

Time: Change from Baseline functional performance at 3 months

Description: Hemoglobin A1c (HbA1c), unit on percentage

Measure: blood glucose level

Time: Change from Baseline functional performance at 3 months

Description: total cholesterol, units on mg/dL

Measure: blood cholesterol

Time: Change from Baseline functional performance at 3 months

4 Influence of Polymorphysms in the Fto and Ppar Gen Genes, Systemic Inflammation and Oxidative Stress in the Magnitude of Weight Loss Induced by Intermittent or Moderate Continuous High Intensity Training Programs

The study focuses on the influence of polymorphism in the FTO genes rs9939609 and PPARᵧ Pro12Ala, oxidative stress and systemic inflammation on changes in body composition and rest metabolism induced by HIIT and continuous aerobic programs in obese or overweight individuals.

NCT03568773 Overweight and Obesity Chronic Disease Other: High-intensity interval training Other: Aerobic exercise moderate intensity Other: Control Group
MeSH: Overweight Weight Loss Chronic Disease
HPO: Decreased body weight Weight loss

Influence of Genetic and Physiological in Weight Loss The study focuses on the influence of polymorphism in the FTO genes rs9939609 and PPARᵧ Pro12Ala, oxidative stress and systemic inflammation on changes in body composition and rest metabolism induced by HIIT and continuous aerobic programs in obese or overweight individuals.

Thus, the objective of the study is to analyze the influence of polymorphism in the genes FTO rs9939609 and PPARᵧ Pro12Ala, oxidative stress and systemic inflammation on changes in body composition and rest metabolism induced by continuous and continuous aerobic programs.

Primary Outcomes

Description: The procedure used for analysis is done using a Dual Energy Radiological Absortiometry (DEXA) equipment. The measurement of the body fat and fat free mass percentage measure is obtained by means of a full body scan using the LUNAR PRODIGY DF + 14.319 Radiation (Madison, WI) brand device, following manufacturer's protocols. The body mass is evaluated by means of a balance (Sanny®, São Bernardo do Campo - São Paulo, Brazil), with the volunteer barefoot and in orthostatic position using a Toledo scale sensitive to 100 g. The stature is evaluated by a stadiometer with a tape calibrated at 0.1 of the same mark. Waist circumference and other body perimeters are measured with a 0.1 cm Anthropometric Tape (Sanny®, São Bernardo do Campo - São Paulo, Brazil). Weight and height data are used to calculate BMI using the equation adopted by the WHO: BMI = (Weight / (Stature) 2).

Measure: Body Composition. The changes are being evaluated.

Time: Before the intervention protocol and 48 hours immediately after the last exercise session.

Secondary Outcomes

Description: The metabolic rate was measured using a gas spirometry analyzer. After having fasted from 8:00 pm the previous day, the volunteers were referred to the laboratory shortly after the awakening and were invited to remain seated in a thermoneutral environment for 30 minutes. For the next 30 minutes, VO2, VCO2, VE and RER were monitored until variations of no more than 10% occurred when five-minute intervals were compared. Once this steady state was obtained, these variables were recorded for five minutes. The calculation of the resting metabolic rate is done according to Macdonald (1990).

Measure: Metabolic Rate of Rest. The changes are being evaluated.

Time: Before the intervention protocol and 48 hours immediately after the last exercise session.

Description: Collections of 10 ml of blood from the antecubital vein will be performed early in the morning, with fasting from 10 to 12 hours. The collections will be done 24 hours before, in the 6th week and after the intervention period. They will remain seated for 10 minutes for subsequent collection. Five milliliters of blood will be placed in EDTA-containing test tubes, protected from light and gently homogenized by inversion. The other 5ml will be placed in tubes without anticoagulants. They will then be centrifuged at 3,000 rpm for 10 min. The plasma or serum will be separated, placed in eppendorf tubes and refrigerated at -20 ° C until analysis. All analyzes will be carried out using a commercial kit of the Labtest brand (Minas Gerais-Brazil). The analyzes will be carried out on serum samples using commercial Labtest kits (Minas Gerais, Brazil), following the manufacturer's recommendations and on a Labmax 240 premium automatic analyzer (Lagoa Santa-MG, Brazil).

Measure: Lipid and Glycemic Profile. The changes are being evaluated.

Time: The collections will be done 24 hours before, in the 6th week and 48 hours after the end of the intervention.

Description: 10 ml of blood will be collected in the beginning of the morning, with fasting of 10 to 12 hours, being done 24 hours before, in the 6th week and after the intervention period. Five milliliters of blood will be placed in test tubes containing EDTA and protected from light and the other 5ml will be placed in tubes without anticoagulants and centrifuged at 3,000 rpm for 10 min. The plasma or serum will be separated, placed in eppendorf tubes and refrigerated at -20 ° C until analyzed by a commercial kit of the Labtest brand (Minas Gerais, Brazil). For this, 250 μl of sample will be added to KCl and incubated in a water bath (37 ° / 60 minutes). The mixture will be precipitated with 35% AA perchloric acid and centrifuged at 14,000 rpm for 10 minutes at 4 ° C. The supernatant will be transferred to eppendorfs and 400μl of 0.6% thiobarbituric acid is added and incubated at 95-100 ° C for 30minutes. The material will be read in a spectrophotometer at a wavelength of 532nm.

Measure: Oxidative stress (Malondialdehyde). The changes are being evaluated.

Time: The collections will be done 24 hours before, in the 6th week and 48 hours after the end of the intervention.

Description: 10 ml of blood will be collected in the beginning of the morning, with fasting of 10 to 12 hours, being done 24 hours before, in the 6th week and after the intervention period. Five milliliters of blood will be placed in test tubes containing EDTA and protected from light and the other 5ml will be placed in tubes without anticoagulants and centrifuged at 3,000 rpm for 10 min. The plasma or serum will be separated, placed in eppendorf tubes and refrigerated at -20 ° C until analyzed by a commercial kit of the Labtest brand (Minas Gerais, Brazil). The evaluation of the total antioxidant capacity will be performed through DPPH. For analysis, 100 μl of plasma will be added to 3.9 ml of vortexed DPPH solution, set to stand for 30 minutes and then centrifuged at 10,000 rpm for 15 minutes at 20 ° C. The supernatant will be used for spectrophotometer reading at 515 nm wavelength, using distilled white water. The result will be expressed as a percentage of antioxidant activity.

Measure: Oxidative stress (Total antioxidant capacity). The changes are being evaluated.

Time: The collections will be done 24 hours before, in the 6th week and 48 hours after the end of the intervention.

Description: 10 ml of blood will be collected in the beginning of the morning, with fasting of 10 to 12 hours, being done 24 hours before, in the 6th week and after the intervention period. Five milliliters of blood will be placed in test tubes containing EDTA and protected from light and the other 5ml will be placed in tubes without anticoagulants and centrifuged at 3,000 rpm for 10 min. The plasma or serum will be separated, placed in eppendorf tubes and refrigerated at -20 ° C until analyzed by a commercial kit of the Labtest brand (Minas Gerais, Brazil). The concentration of hs-CRP will be quantified by immunoturbidimetry in serum samples. Calibration will use the Calibra Calibrator from Labtest (Calibra Plus PCR-ultra - Ref-345). Absorbance will be obtained on the Labmax 240 premium automatic analyzer at 540 nm wavelength. The concentrations of hs-CRP will be determined by the commercial kit (Labtest, Minas Gerais, Brazil) according to the manufacturer's instructions.

Measure: Systemic Inflammation (Plasma ultra-sensitive C-reactive protein). The changes are being evaluated.

Time: The collections will be done 24 hours before, in the 6th week and 48 hours after the end of the intervention.

Description: 10 ml of blood will be collected in the beginning of the morning, with fasting of 10 to 12 hours, being done 24 hours before, in the 6th week and after the intervention period. Five milliliters of blood will be placed in test tubes containing EDTA and protected from light and the other 5ml will be placed in tubes without anticoagulants and centrifuged at 3,000 rpm for 10 min. The plasma or serum will be separated, placed in eppendorf tubes and refrigerated at -20 ° C until analyzed by a commercial kit of the Labtest brand (Minas Gerais, Brazil). The A1GPA concentration will be quantified by immunoturbidimetry using the commercial kit (Labtest, Minas Gerais, Brazil) as per manufacturer's instructions. Calibration will use the Calibra Calibrator from Labtest (Calibra Plus Protein - Ref-346). The absorbance will be obtained in the Labmax 240 premium automatic analyzer (Lagoa Santa-MG, Brazil), at wavelength 340nm.

Measure: Systemic Inflammation (Analysis of alpha-1-glycoprotein acid). The changes are being evaluated.

Time: The collections will be done 24 hours before, in the 6th week and 48 hours after the end of the intervention.

Description: Oral cell samples were collected through a mouthwash for 60 seconds of 5 ml of 3% sucrose solution. The resulting contents of the mouthwash were transferred to a 15 ml tube, which immediately afterwards was placed in a solution of TNE (17 mM Tris-HCl pH 8.0, 50 mM NaCl and 7 mM EDTA), diluted to 66% alcohol and autoclaved distilled water.After this, the extraction and genotyping process followed the recommendations of Saiki et al. (1985)

Measure: DNA Extraction and Genotyping

Time: The genetic collection will be made in the 6th week of the intervention.

5 Polymorphisms in Genes Encoding the Estrogen Metabolism Enzymes and Effects of Hormone Therapy for Oral Low Dose or Not Oral on Variables Related Endothelial Function, Inflammation and Metabolic Profile in Patients in Recent Menopause Study Pharmacogenetic

This is cross-over, randomized clinical trial, with objective to evaluate the effects of low-dose oral hormone therapy and non-oral hormone therapy on endothelial function markers (fibrinogen, von Willebrand factor, c-reactive protein), natriuretic peptide and on anthropometric, metabolic and hormonal variables in early and healthy postmenopausal women and analyzing polymorphisms in the estrogen receptor gene and FTO polymorphisms Patients will be randomized to receive oral hormone treatment or non-oral hormone treatment The investigators hypothesis is that a different genotypes in the receptor estrogen gene and FTO may have an influences on treatment response in metabolic markers and cardiovascular risk

NCT01432028 Postmenopause Drug: Estradiol and Progesterone Drug: Estradiol and Drospirenone

Influence of 2 polymorphisms (rs9939609 and rs8050136) on the effect of different treatment regimens.

Primary Outcomes

Description: Influence of 4 polymorphisms (PVUII, ALUI, RSAI and BSTUI) on the effect of different treatment regimens. Change from Baseline in weight, waist circumference, BMI, systolic and diastolic blood pressure, fasting glucose, glucose at 120 min, Fasting insulin, HOMA, Cholesterol, HDL-c, LDL-c, Triglycerides, Von Willebrand Factor, Fibrinogen, Testosterone and C-reactive protein at six months.

Measure: Polymorphisms of estrogen receptor

Time: six months

Secondary Outcomes

Description: Influence of 2 polymorphisms (rs9939609 and rs8050136) on the effect of different treatment regimens. Change from Baseline in weight, waist circumference, BMI, systolic and diastolic blood pressure, fasting glucose, glucose at 120 min, Fasting insulin,HOMA, Cholesterol, HDL-c, LDL-c, Triglycerides, Von Willebrand Factor, Fibrinogen, Testosterone and C-reactive protein at six months.

Measure: Polymorphisms in the fat mass-and obesity-associated (FTO) gene

Time: Six Months

Other Outcomes

Description: To assess the effects of oral low-dose and non-oral hormone therapy (HT) on ultra-sensitive C reactive protein (CRP), atrial natriuretic peptide (ANP), and cardiovascular risk factors in postmenopause.

Measure: Effects of hormone therapy on C reactive protein, atrial natriuretic peptide and cardiovascular risk factors in postmenopause.

Time: Six months

6 A Replicated Crossover Study to Explore Individual Variability of Appetite Responses to a Standardised Meal and Any Moderating Influence of the FTO Gene

The aim of this study is to examine the interindividual variability of subjective and hormonal appetite responses to a standardised meal in healthy men and explore any moderating influence of the fat mass and obesity associated gene (FTO). Participants homozygous for the obesity risk A allele (AA) or low risk T allele (TT) of FTO rs9939609 will complete two fasted control and two standardised meal (5025 kJ energy, 47% carbohydrate, 9% protein, 44% fat) conditions in randomised sequences. Ratings of perceived appetite and venous blood samples will be taken before and after the interventions. Interindividual differences in appetite responses and the potential moderating influence of the FTO gene will be examined using bivariate correlations and linear mixed modelling.

NCT03771690 Appetitive Behavior Obesity Genetic Predisposition to Disease Behavioral: Standardised meal
MeSH: Disease Susceptibility Genetic Predisposition to Disease

Participants homozygous for the obesity risk A allele (AA) or low risk T allele (TT) of FTO rs9939609 will complete two fasted control and two standardised meal (5025 kJ energy, 47% carbohydrate, 9% protein, 44% fat) conditions in randomised sequences.

Inclusion Criteria: - Homozygous minor allele (AA) or major allele (TT) FTO rs9939609 genotype; - Non-smoker; - Weight stable for the previous 3 months.

Exclusion Criteria: - Heterozygous FTO rs9939609 genotype (i.e., AT); - Any medical conditions (e.g., diabetes, coagulation or bleeding disorders); - Taking any medication that might influence appetite, fat metabolism or blood glucose; - Dieting or restrained eating behaviours; - Any food allergies.

A total of 18 healthy men will be recruited according to their FTO rs9939609 genotype: 9 homozygous minor allele (AA) and 9 homozygous major allele (TT).

Primary Outcomes

Description: Control adjusted pre-to-post change in plasma acylated ghrelin concentration

Measure: Acylated ghrelin concentration

Time: 1 hour (Plasma samples will be collected at 0 hour (pre) and 1 hour (post))

Secondary Outcomes

Description: Control adjusted pre-to-post change in plasma total peptide YY concentration

Measure: Total peptide YY concentration

Time: 1 hour (Plasma samples will be collected at 0 hour (pre) and 1 hour (post))

Description: Control adjusted pre-to-post change in plasma insulin concentration

Measure: Insulin concentration

Time: 0.5 hour (Plasma samples will be collected at 0 hour (pre) and 0.5 hour (post))

Description: Control adjusted pre-to-post change in plasma glucose concentration

Measure: Glucose concentration

Time: 0.5 hour (Plasma samples will be collected at 0 hour (pre) and 0.5 hour (post))

Description: Control adjusted pre-to-post change in rating of perceived hunger. Perceived hunger will be measured using a 100 mm visual analogue scale anchored at 0, 'I am not hungry at all', and 100, 'I have never been more hungry'.

Measure: Rating of perceived hunger

Time: 1 hour (Visual analogue scales will be completed at 0 hour (pre) and 1 hour (post))

Description: Control adjusted pre-to-post change in rating of perceived satisfaction. Perceived satisfaction will be measured using a 100 mm visual analogue scale anchored at 0, 'I am completely empty', and 100, 'I cannot eat another bite'.

Measure: Rating of perceived satisfaction

Time: 1 hour (Visual analogue scales will be completed at 0 hour (pre) and 1 hour (post))

Description: Control adjusted pre-to-post change in rating of perceived fullness. Perceived fullness will be measured using a 100 mm visual analogue scale anchored at 0, 'Not full at all', and 100, 'Totally full'.

Measure: Rating of perceived fullness

Time: 1 hour (Visual analogue scales will be completed at 0 hour (pre) and 1 hour (post))

Description: Control adjusted pre-to-post change in rating of perceived prospective food consumption. Perceived prospective food consumption will be measured using a 100 mm visual analogue scale anchored at 0, 'Nothing at all', and 100, 'A lot'. consumption

Measure: Rating of perceived prospective food consumption

Time: 1 hour (Visual analogue scales will be completed at 0 hour (pre) and 1 hour (post))

7 Using Personalized Nutrigenomics Testing to Mitigate Overweight/Obesity Risk in Two Distinct Patient Populations: A Multicentre Randomized Clinical Intervention Trial

The investigators hypothesize that compared to the provision of population-based lifestyle advice, providing DNA-based lifestyle advice via personalized nutrigenomics testing (PNT) to two distinct patient populations (Family Health Team patients receiving a lifestyle counselling intervention and transplant recipients) will lead to greater reductions in percent body fat. In addition, it will motivate them to adopt healthier dietary and physical activity habits through changes in attitudes and/or subjective norms and/or behavioural control, lead to greater fat loss (kg), increased percent lean mass and therefore improve health and quality of life outcomes for both patient populations. In addition, it is hypothesized that dietary strategies related to the intake of one or more dietary components of interest will mitigate post-transplant weight gain associated with three SNPs of interest. This is a randomized clinical intervention trial involving a total of four groups of patients (n = 400). The two main patient groups include overweight or obese, stable transplant recipients and overweight or obese patients who are attending group counselling sessions at the East Elgin Family Health Team. Within these two main groups, there will be two sub-groups. Patients will be randomized to receive either PNT or standard nutrition intervention (SNI). Baseline data will be conducted consisting of a food frequency questionnaire and three-day food records using a validated multiple pass method. Bioelectrical Impedance Analysis (BIA) will be conducted to assess body composition and to derive percent body fat and lean mass. Weight and height will be measured using a weigh scale and stadiometer. Attitudes, subjective norms and behavioural control will be assessed using a Theory of Planned Behaviour Questionnaire. Those patients randomized to the PNT group will be instructed on a tailored nutrition care plan and physical activity recommendations based on their individual genetic profile. At the same time, the SNI group will be instructed on general nutrition and physical activity recommendations for weight loss, which include the use of dietary strategies from the standard tool ('Just the Basics') used by registered dietitians for transplant patients and the GLB program for patients attending the East Elgin Family Health Team sessions. Monthly email reminders or phone calls (depending on patient preference) will be sent to transplant recipients as a reminder of their nutrition and physical activity plan. Reminders of nutrition and physical activity goals for the Family Health Team participants are incorporated into the GLB program. Three months, six months and twelve months after baseline data collection and individual nutrition interventions, baseline data will be repeated. After the study is complete, participants in the SNI group will be offered a nutrigenomics report and consultation with a registered dietitian. A paired t-test or repeated measures ANOVA will be used to assess within group change from baseline to each follow-up time point for: BMI, body fat, lean mass, and dietary intake. A repeated measures ANOVA will be used to test between group differences from baseline to each follow-up time point for: BMI, body fat, lean mass, and dietary intake. If significant mean differences are detected, a Tukey's post hoc test will be used to compare differences by group. Statistical significance will be determined by P < 0.05. General linear regression models will be used to assess interactions between each genotype of interest and each dietary component of interest on BMI and body composition from baseline to each follow-up time point.

NCT03015012 Transplant-Related Disorder Overweight and Obesity Genetic: Personalized Nutrigenomics Testing (PNT) Other: Standard Nutrition Intervention (SNI)
MeSH: Obesity Overweight
HPO: Obesity

Nutrigenomics (nutrition-genetic) interactions between ACE gene variants at rs4343, FTO gene variants at rs1558902 (in strong linkage disequilibrium with rs9939609) and MC4R (rs571312) to mitigate risk of post-transplant weight gain will be assessed for transplant recipients in the PNT group.. Inclusion Criteria: - TRANSPLANT PATIENTS: Adults greater than or equal to age 18, non-pregnant, non-lactating, attending Canadian Transplant Association meetings, BMI ≥ 25kg/m2, ≥1 year stable (not being treated for transplant rejection or infection) post-transplant, having access to a computer with email or a telephone at least one day per week and English speaking.

Primary Outcomes

Description: Change in body composition (body fat percentage as the primary outcome) will be assessed using BIA which will provide information on fat mass, lean mass, and water weight

Measure: Change in Body Fat Percentage

Time: 3 months, 6 months, 12 months

Secondary Outcomes

Description: Change in dietary intake will be assessed using pre- and post- dietary data collected using 3-day food records, and a past-month online food frequency questionnaire.

Measure: Change in Dietary Intake

Time: 3 months, 6 months, 12 months

Description: Change in physical activity will be assessed using pre- and post- physical activity data collected using a 7-day physical activity recall. Metabolic equivalents will then be calculated from this data.

Measure: Change in Physical Activity

Time: 3 months, 6 months, 12 months

Description: Change in these key components of the Theory of Planned Behaviour (TPB) will be assessed using a TPB questionnaire.

Measure: Change in Attitudes, Subjective Norms and Behavioural Control

Time: Pre- and post- lifestyle intervention (baseline), 3 months, 6 months, 12 months

Description: Change in body composition will be assessed using BIA which will provide information on fat mass, lean mass, and water weight

Measure: Change in Body Composition

Time: 3 months, 6 months, 12 months

Description: Change in BMI will be measured using weight and height data collected using a weigh scale and stadiometer

Measure: BMI

Time: 3 months, 6 months, 12 months

Description: Change in weight will be measured using a weigh scale

Measure: Weight

Time: 3 months, 6 months, 12 months

Other Outcomes

Description: Nutrigenomics (nutrition-genetic) interactions between ACE gene variants at rs4343, FTO gene variants at rs1558902 (in strong linkage disequilibrium with rs9939609) and MC4R (rs571312) to mitigate risk of post-transplant weight gain will be assessed for transplant recipients in the PNT group.

Measure: Nutrigenomics Interactions

Time: 3 months, 6 months, 12 months

8 Effect of Exercise on Appetite, Energy Intake, Butyrylcholinesterase Activity and Gut Peptides in Men With Variants of the Obesity-linked FTO rs9939609 Polymorphism

Using a database of individuals with FTO genetic data, the study aims to assess the appetite, energy intake, butyrylcholinesterase, gut hormone responses to a bout of moderate- to high intensity exercise in individuals with genetic variations in the FTO gene.

NCT03025347 Appetitive Behavior Other: Control Other: Exercise

Effect of Exercise on Appetite, Energy Intake, Butyrylcholinesterase Activity and Gut Peptides in Men With Variants of the Obesity-linked FTO rs9939609 Polymorphism.

Inclusion Criteria: - non-smoker, not currently dieting, weight stable for >3 months (self-reported), no personal history of cardiovascular disease, metabolic disease or dyslipidaemia, European ancestry, no psychiatric or medical condition Exclusion Criteria: - food allergies, dislike or intolerance of study foods and drinks, irregular eating patterns, use of medication that could influence hormone concentrations Inclusion Criteria: - non-smoker, not currently dieting, weight stable for >3 months (self-reported), no personal history of cardiovascular disease, metabolic disease or dyslipidaemia, European ancestry, no psychiatric or medical condition Exclusion Criteria: - food allergies, dislike or intolerance of study foods and drinks, irregular eating patterns, use of medication that could influence hormone concentrations Appetitive Behavior The fat mass and obesity-associated gene (FTO) rs9939609 A allele is related to obesity, greater food intake and impaired postprandial reduction of ghrelin.

Exercise acutely suppresses levels of ghrelin and appetite, yet whether the response differs in people with or without the rs9939609 A allele is unknown.

This study assessed the effect of exercise on appetite, appetite-regulatory hormones and energy intake in variants of the FTO rs9939609 polymorphism.

Cohort The investigators initially recruited 202 subjects to a database and measured FTO rs9939609 genotype.

From these subjects, 12 individuals homozygous for the 'obesity-risk' rs9939609 A allele and 12 homozygous for the T allele were recruited.

Primary Outcomes

Description: Measured using ELISA from venous blood samples

Measure: Plasma acylated ghrelin concentrations (N=24)

Time: 24 hours

Description: Measured using ELISA from venous blood samples

Measure: Plasma desacyl ghrelin concentrations (N=24)

Time: 24 hours

Description: Measured using visual analogue scales

Measure: Subjective appetite (N=24)

Time: 24 hours

Description: Measured at laboratory-based meals

Measure: Ad-libitum energy intake (N=24)

Time: 24 hours

Description: Measured using Ellman's reagent protocol

Measure: Plasma butyrylcholinesterase activity (N=24)

Time: First hour of main trial (three samples).

Secondary Outcomes

Description: Measured using ELISA from venous blood samples

Measure: Plasma total glucagon-like peptide 1 concentrations (N=24)

Time: 24 hours

Description: Measured using ELISA from venous blood samples

Measure: Plasma total peptide yy concentrations (N=24)

Time: 24 hours

Description: Measured using ELISA from venous blood samples

Measure: Plasma leptin concentrations (N=24)

Time: Baseline (fasting) sample

9 Obesity in Schoolchildren of Basic Education: a Study of Interdisciplinary Intervention - Phase III

The study aims to evaluate the possible effects of an exercise program, nutritional and psychological, postural orientation and guidance of oral health on body composition, physical activity levels and lifestyle, physical fitness and health and motor performance, the factors risk of cardiovascular disease, eating habits, the cognition levels, the psychological profile, the body posture of children and adolescents with overweight and obesity, considering the presence of risk genotype associated with the development of obesity. In addition, identify the effects of orientation for oral health on the quality of life and healthy oral habits.

NCT02769897 Obesity Adolescent Behavior Behavioral: Physical exercise
MeSH: Obesity
HPO: Obesity

The following parameters will be evaluated: anthropometric (BMI, waist circumference and skinfold thickness); hematologic and biochemical analysis (HDL cholesterol, LDL cholesterol, total cholesterol, triglycerides, glucose, insulin, adiponectin, leptin, resistin, C reative protein, ALT, AST, glycated hemoglobin, IL-6, IL-10, TNF-α, cortisol, irisina, F2 isoprostane and uric acid); polymorphism related to obesity (FTO rs9939609); related-health physical fitness (flexibility; sit and reach test; abdominal strength and cardiorespiratory fitness); postural deviations evaluated by the photogrammetry method - SAPO program.

Primary Outcomes

Description: Body mass index is measured by the weight and height values, applying the formula: weight/(height)²

Measure: Body mass index (kg/m²)

Time: 6 months

10 FTO rs9939609 and PPARy rs1801282 Polymorphisms in Mexican Adolescents With Overweight and Obesity at High Risk for Developing Diabetes

Background and Aims: The presence of the FTO rs9939609 and PPARy rs1801282 polymorphisms suggests changes in energy metabolism; this variation may be responsible for the development of various diseases including obesity. The aim of this study was to identify the presence of these polymorphisms in Mexican adolescents with overweight and obesity at high risk for developing diabetes. Methods and Results: This was a descriptive cross-sectional study, where 71 healthy adolescents (average age of 16) were included. Anthropometric measurements, Body mass index, as well as the determination of glucose, insulin and HOMA index were calculated from all the patients. The FTO rs9939609 and PPARy rs1801282 polymorphisms were determined by real-time PCR.

NCT02886013 Metabolic Syndrome Insulin Resistance
MeSH: Metabolic Syndrome Insulin Resistance
HPO: Insulin resistance

FTO rs9939609 and PPARy rs1801282 Polymorphisms in Mexican Adolescents With Overweight and Obesity at High Risk for Developing Diabetes.

FTO rs9939609 and PPARy rs1801282 Polymorphisms in Mexican Adolescents Background and Aims: The presence of the FTO rs9939609 and PPARy rs1801282 polymorphisms suggests changes in energy metabolism; this variation may be responsible for the development of various diseases including obesity.

The FTO rs9939609 and PPARy rs1801282 polymorphisms were determined by real-time PCR.

Prevalence of the FTO rs9939609 and PPARy rs1801282 polymorphisms..

Primary Outcomes

Description: The aim of this study was to identify the presence of these polymorphisms in Mexican adolescents with overweight and obesity at high risk for developing diabetes.

Measure: Prevalence of the FTO rs9939609 and PPARy rs1801282 polymorphisms.

Time: up to 24 months.


HPO Nodes


Obesity
Genes 318
MYT1L SOX2 MKRN3 PCSK1 SOX3 MKKS RAB23 GABRD SNORD115-1 SPATA7 SOX10 CERKL PRPF31 LRAT IFT140 ARL2BP PNKP MAK CNNM2 AHI1 ABCA4 PDE4D ZBTB20 PDE6A PDE6G IMPDH1 HDAC4 CEL ATRX TRAF3IP1 PDE6B PDSS1 CYP7A1 INS HLA-DQB1 IFT172 KIZ CDHR1 SMC1A HLA-DRB1 CYP19A1 RPS6KA3 SDCCAG8 IQSEC2 DHX38 APC2 HDAC8 MC4R GATA4 PDX1 IPW BBS1 PWRN1 BBS2 CDH23 BBS4 DHDDS SRY NDN PRPF6 GCK PSMD12 WNT4 AGBL5 DCC RREB1 PTEN HNF4A SLC10A7 TRIP12 BBS9 TUB MECP2 BDNF SNORD116-1 HESX1 FGF17 MKS1 TULP1 HIRA TNFSF4 BLK GHR SEMA3A XYLT1 ARL6 TTC8 PROM1 BPTF NEK2 ZDHHC15 ANOS1 SAG NEUROD1 KIDINS220 KISS1R PNPLA6 ALMS1 BRAF PROKR2 CANT1 KLHL7 REEP6 UBE3A FAM161A ABCC8 HS6ST1 RBMX KCNJ11 MCM3AP SYNE2 UFD1 HACE1 ARNT2 ARL13B NPAP1 SCAPER FSCN2 AHR PRCD KMT2A FGF8 AKT2 FGFR1 FGFR3 TACR3 FLRT3 GNAS HSD11B1 PWAR1 SEMA4A HERC2 MERTK FTO PRMT7 FHL1 USH2A CLRN1 CNGB1 CNGA1 KDM6A NIPBL NR0B2 PHIP TRAPPC9 TBX1 MOG CA4 IMPG2 PDE11A GP1BB RAD21 CUL4B PROK2 NPHP1 FLII CACNA1S IFT27 GNAS-AS1 KLF11 DPYD TBX3 HNF1A BEST1 NR2E3 RAP1A RAP1B MAGEL2 DEAF1 FMR1 COMT OFD1 WDR34 SLC25A4 NRL CLIP2 IFT74 RNPC3 INPP5E SYNE1 NTRK2 DUSP6 LZTFL1 CEP290 RBP3 HGSNAT KCNAB2 WT1 BBIP1 POMC NSD1 KIAA1549 PHF6 BAZ1B RDH12 POMGNT1 PRPH2 SHOX ARHGEF18 PCARE POU3F4 SPG11 CHD7 TMEM43 SIN3A AIP BBS5 H6PD HUWE1 APOE IDH3B PPARG SIM1 RFC2 XRCC4 SLC7A7 GTF2IRD1 SKI PRPF8 ADNP THOC2 CCDC141 CREBBP RGR ZNF365 SLC7A14 JMJD1C SHANK3 LEP WDPCP LEPR CEP164 SH2B1 RHO CRB1 KIF7 BBS10 MKRN3-AS1 MTFMT CRX ZNF711 RLBP1 USP8 MLXIPL LIMK1 SETD2 EYS ARL3 KMT2D IGF1 LIPE OTX2 IGF1R GTF2I IGFALS NSMF EGF SEC24C LMNA MEGF8 GUCA1B IFT88 ARVCF WDR11 SMC3 PRPF4 FEZF1 P2RY11 PRPF3 SETD5 TRIM32 BBS7 ATP6AP2 EIF2S3 ZNF408 ARMC5 SPRY4 DYRK1B EHMT1 PRKAR1A APPL1 FOXP1 ROM1 RP9 RP1 ELN PAX4 RP2 RPGR PAX6 RERE EMD CTNNB1 C8ORF37 KCNJ18 LAS1L TOPORS STX16 IL17RD ERMARD CTSH PRDM16 BBS12 RPE65 SNRNP200 SNRPN TBL2 EP300 VPS13B HCRT AFF4 MAN1B1 RAI1 CEP19 SMAD4 GABRA3 PCNT ZNF513
Diabetes mellitus
Genes 326
SOX2 MKRN3 SOX3 MKKS SNORD115-1 SPATA7 CDKN2A HFE CERKL UBR1 PRPF31 LRAT PRSS1 TREX1 PRSS2 IFT140 ARL2BP GLRX5 SLC29A3 MAK AHI1 ABCA4 PDE4D ZBTB20 PDE6A PDE6G ZMPSTE24 IMPDH1 CEL STUB1 SPINK1 RTEL1 PDE6B LEMD3 INS HLA-DQB1 GJB4 IFT172 AMACR KIZ CDHR1 HLA-DRB1 CYP19A1 CFTR DHX38 MAFA GAS1 INSR ZFP57 MC4R GATA3 CTRC GATA6 PDX1 IPW PEX1 BBS1 PWRN1 PEX6 BBS2 DNAJC21 PEX10 CDH23 SRP54 DHDDS NDN PRPF6 GCK NDP KCTD1 AGBL5 GPR101 PTCH1 HNF4A ADAR TTPA TUB SNORD116-1 HESX1 STAT1 STAT3 TULP1 BLK BLM ARL6 IFIH1 TTC8 GJA1 PROM1 NEK2 GJB3 SAG FBN1 NEUROD1 SARS2 PNPLA6 BRCA1 ALMS1 BRAF BRCA2 PROKR2 CLCNKB TINF2 KLHL7 REEP6 FAM161A PIK3R1 GLI2 ABCC8 KCNJ11 RNASEH2C ARNT2 NPAP1 SCAPER FSCN2 DCAF17 AHR PRCD DKC1 FGF8 PLAGL1 AKT2 NOP10 FGFR1 PLCD1 GNAS PWAR1 SEMA4A HERC2 MERTK FOXH1 PLIN1 HYMAI NODAL USH2A CLRN1 CNGB1 CNGA1 EIF2AK3 MOG CDON CA4 IMPG2 PDE11A FOXP3 FOXC2 HJV PROK2 RNASEH2B KRAS TCF4 KLF11 EFL1 HNF1A BEST1 HNF1B PNPLA2 NR2E3 MAGEL2 POC1A OFD1 SLC25A4 USB1 NRL CLIP2 APOA5 CISD2 RNASEH2A CTC1 PTF1A WFS1 GPR35 POLD1 FOS RRM2B POLG AGPAT2 RBP3 WRN SLC19A2 HGSNAT GLIS3 SHH AIRE KIAA1549 FUZ BAZ1B RDH12 POMGNT1 PRPH2 ARHGEF18 DNM1L CP TWNK CPA1 CASR PCARE SAMHD1 TDGF1 AIP CAV1 PSTPIP1 FXN APOE IDH3B PPARG RFC2 XRCC4 WRAP53 SIX3 GTF2IRD1 NSMCE2 PRPF8 DLL1 NHP2 TERC TERT EDA RGR SLC7A14 AR LEP OPA1 LEPR PALB2 POLR3A RHO CRB1 ZIC2 MKRN3-AS1 CRX RLBP1 TTC7A PPP1R3A CNBP MST1 ERGIC1 LHX1 TGIF1 USP8 MLXIPL LIG4 LIMK1 EYS ARL3 LIPE OTX2 IGF1R GTF2I HMGA2 ATP6 TRNC SLC12A3 LMNA COX1 COX2 COX3 GUCA1B IFT88 CYTB SLC16A2 PRPF4 PRPF3 ELMO2 PDE8B VANGL1 SBDS EIF2S3 IER3IP1 ZNF408 CIDEC ND1 ARMC5 ND4 ND5 ND6 PRKACA PRKAR1A NKX2-5 APPL1 TRNE TRNF ROM1 ZFYVE26 PARN CAVIN1 BSCL2 TRNH RP9 RP1 ELN TRNK PAX4 RP2 TRNL1 RPGR ATM HAMP CTNS CTNNB1 C8ORF37 TRNQ TRNS1 TRNS2 POLG2 TRNV TOPORS TRNW KDSR HBB SUFU IL2RA RPE65 DNAJC3 SNRNP200 SNRPN PALLD TBL2 DISP1 EDA2R NEUROG3 TP53 CEP19 SMAD4 PCNT ZNF513
Weight loss
Genes 254
IL10 CDKN2A TET2 IL12A IL12B SDHAF1 POU6F2 ERCC2 ERCC3 BRIP1 ERCC4 ZBTB16 ERCC5 PRTN3 DIS3L2 CENPJ ATP7B RNF168 GALT ATR ATRX HLA-B ACAT1 CENPE AVP ERAP1 HLA-DPA1 HLA-DPB1 INS HLA-DQB1 GJB4 HLA-DRB1 TRAIP MAX B2M CYP24A1 KIF1B CFTR INSR LRRK2 ZFP57 MC2R GATA2 GATA4 PDX1 GBA HLCS CDH23 HMBS NBN PTPN22 DAXX IKZF1 RPS20 EWSR1 CCND1 HMGCL BCL2 GCK NDP TSHR BCL6 MDH2 PTEN SUCLA2 TRIP13 DCTN1 F5 GDNF MECP2 TTR KLRC4 MEFV STAR STAT3 STAT4 STAT5B FANCA SLC52A3 FANCC FANCD2 FANCE JAK2 GJA1 FANCB FANCF MALT1 FANCG BMPR1A GJB3 PANK2 ATRIP GPC3 BRCA1 BRCA2 SDHAF2 PIK3CA PIK3R1 ABCC8 BTK KCNJ11 VPS13A SCNN1A SCNN1B MLH1 SCNN1G FIP1L1 AK2 PLAGL1 PLA2G6 CCR1 AKT1 MAFB C4A BCL10 CDC73 SEMA4A MAD2L2 SLC52A2 NME1 FH HYMAI EIF2AK3 SLC9A6 IL23R SDHA SDHB SDHC SDHD PML COL1A1 FOXP3 MPL RAD51 RAD51C CUL4B PMS1 VHL KRAS NPM1 KRT1 COL5A1 FLI1 COL5A2 CACNA1S COL6A1 HSPG2 COL6A2 COL6A3 TCF4 SEMA3C KRT10 PMS2 DNAJC13 COL12A1 RARA MLX RHBDF2 RB1 NRTN CALR GPR35 RBBP8 RRM2B POLG GNPTAB CNTNAP1 NUMA1 WT1 BIRC3 SLC39A4 FANCL MSH2 REST TXNRD2 RET NABP1 XRCC2 FANCM ECE1 TYMP FAS TMEM127 TBL1XR1 PALB2 EDN3 EDNRB RFWD3 FAN1 TGFB1 IFNGR1 HAVCR2 MST1 SLC6A8 TGFBR2 MSH6 SEMA3D LIPA MLH3 THPO SLC11A1 LMNA COX1 COX2 UBE2T COX3 IGH TRIM28 IL12A-AS1 FANCI BTNL2 MRAP ND1 VPS35 ND4 TLR4 ND5 EIF4G1 ND6 LPIN2 CHEK2 PRKAR1A GIGYF2 TRPV4 UBAC2 FOXP1 TRNF CEP152 TRNH CTLA4 TRNL1 ATM KCNJ18 TRNQ TRNS1 SNCA TRNS2 TRNW KDSR EPCAM NNT PLK4 PALLD TRIM37 SLX4 UNC80 H19 PRNP TP53 HTT SMAD4 JPH3 GABRA3 PCNT
Insulin resistance
Genes 56
BLK PPP1R3A KLF11 HNF1A HNF1B IGF1 LIPE NEUROD1 IGFALS ZMPSTE24 SLC12A3 CEL LMNA ALMS1 CLCNKB PTF1A INS PIK3R1 POLD1 FOS ABCC8 CYP19A1 CIDEC KCNJ11 AGPAT2 INSR ZFP57 WRN DCAF17 GATA6 PDX1 MFN2 APPL1 PLAGL1 AKT2 CAVIN1 BSCL2 HSD3B2 DBH GCK LMNB2 PAX4 CAV1 HSD11B1 PPARG XRCC4 NSMCE2 PLIN1 HNF4A HYMAI EIF2AK3 LEP LEPR STAT3 CEP19 PMM2
Type I diabetes mellitus
Genes 39
TTC7A MST1 AIRE DNAJC21 SRP54 TRNE TCF4 TRNF EFL1 HNF1A TRNH TRNL1 KCTD1 PSTPIP1 TRNQ TRNS1 TRNS2 SLC12A3 COX1 STUB1 COX2 COX3 TRNW CLCNKB SLC16A2 EDA EIF2AK3 GPR35 DNAJC3 INS SBDS EDA2R NEUROG3 STAT1 ND1 ND4 ND5 ND6 FOXP3