SNPMiner Trials by Shray Alag


SNPMiner Trials: Mutation Report


Report for Mutation A1298C

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

There are 5 clinical trials

Clinical Trials


1 The Role of Prothrombin Gene Polymorphism as a Risk Factor for Recurrent Pregnancy Loss

Recurrent miscarriage is a pregnancy loss before 20 weeks of gestation. The recurrent pregnancy loss usually occurring in the first trimester of gestation and its rate is quite high (15-20% even in full reproductive period) . In 2012, the American Society for Reproductive Medicine Practice Committee issued a statement that defined recurrent pregnancy loss as a disease distinct from infertility defined by two or more failed consecutive pregnancies.

NCT03209063 Recurrent Pregnancy Loss Diagnostic Test: polymerase chain reaction
MeSH: Abortion, Spontaneous Fetal Death Abortion, Habitual
HPO: Spontaneous abortion Stillbirth

Thrombophilia was identified as a major cause of recurrent pregnancy loss , Because pregnancy is a hypercoagulable state, thromboembolism is the leading cause of antepartum and postpartum maternal mortality .The four most common genetic markers for thrombophilia are; prothrombin gene mutation(FII, G20210A), methylene tetra hydrofolate reductase mutations (MTHFR and A1298C), factor V Leiden (FVL, G1691A) , and plasminogen activator inhibitor 1 (PAI-1) . --- G20210A --- --- A1298C ---

Primary Outcomes

Description: using polymerase chain reaction Polymerase chain reaction

Measure: percentage of recurrent pregnancy loss with the presence of prothrombin gene mutation in these women

Time: 2 days

2 Association of the C677T and A1298C MTHFR Polymorphisms With Chemotherapy Effectiveness Among Patients With Metastatic Colorectal Cancer

Fluoropyrimidines are the backbone of chemotherapy regimes used to treat metastatic colorectal cancer (CRC). These drugs act in different pathways of folate metabolism altering DNA synthesis mainly by inhibition of the tymidylate synthase. For this reaction the 5,10-methylenetetrahydrofolate acts as cofactor. It has been demonstrated that A1298C and C677T polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene result in reduced enzyme activity that leads to reduced availability of this important cofactor. Hence, we hypothesized that the presence of these polymorphisms are related to the efficacy and toxicity of fluoropyrimidines in patients with CRC.

NCT03852290 Colon Cancer MTHFR Gene Mutation Chemotherapeutic Toxicity Chemotherapy Effect
MeSH: Colonic Neoplasms
HPO: Colon cancer Neoplasm of the colon

Association of the C677T and A1298C MTHFR Polymorphisms With Chemotherapy Effectiveness Among Patients With Metastatic Colorectal Cancer. --- C677T --- --- A1298C ---

C677T and A1298C MTHFR Polymorphisms and Fluoropyrimidine Effectiveness in Metastatic Colon Cancer Fluoropyrimidines are the backbone of chemotherapy regimes used to treat metastatic colorectal cancer (CRC). --- C677T --- --- A1298C ---

It has been demonstrated that A1298C and C677T polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene result in reduced enzyme activity that leads to reduced availability of this important cofactor. --- A1298C ---

Assessment of C677T and A1298C MTHFR polymorphisms and overall survival. --- C677T --- --- A1298C ---

Assessment of C677T and A1298C MTHFR polymorphisms and progression-free survival. --- C677T --- --- A1298C ---

Assessment of C677T and A1298C MTHFR polymorphisms and response rate. --- C677T --- --- A1298C ---

Prospective assessment of toxicity according to the National Cancer Institute Common Toxicity Criteria (NCI-CTC) 4.0 criteria according to the C677T and A1298C polymorphisms. --- C677T --- --- A1298C ---

Primary Outcomes

Description: Overall survival

Measure: Assessment of C677T and A1298C MTHFR polymorphisms and overall survival

Time: From the start date of treatment until the date of death from any cause, assessed up to 24 months

Description: Progression-Free survival

Measure: Assessment of C677T and A1298C MTHFR polymorphisms and progression-free survival

Time: From the start date of treatment until the date of first documented progression or date of death from any cause, whichever came first, assessed up to 24 months

Description: Response rate

Measure: Assessment of C677T and A1298C MTHFR polymorphisms and response rate

Time: From the start date of treatment until the first radiological or clinical assessment, up to 6 months.

Secondary Outcomes

Description: Prospective assessment of toxicity according to the National Cancer Institute Common Toxicity Criteria (NCI-CTC) 4.0 criteria according to the C677T and A1298C polymorphisms

Measure: Assessment of C677T and A1298 MTHFR polymorphisms and toxicity

Time: From treatment initiation to detected toxicity during treatment with any fluoropyrimidine alone or in combination with oxaliplatin, irinotecan or any biological treatment as first line therapy of colorectal metastatic cancer (up to 24 months)

3 The Effect of Flaxseed Oil Supplementation on Biomarkers, Quality of Life and Cognitive Function in Hypertensive and Dyslipidemic Subjects With or Without the C677T and A1298C Polymorphisms in MTHFR Gene in Different Municipalities of Rio de Janeiro

The purpose of this study is to evaluate the effect of supplementation with flaxseed oil combined with a nutritional counseling in reducing cardiovascular risk factors in homocysteine , biomarkers of inflammation, oxidative stress, improving quality of life and cognitive decline in hypertensive and dyslipidemic genotyped for the C677T and A1298C polymorphisms of methylenetetrahydrofolate reductase gene.

NCT01604681 Hypertension Dyslipidemia Dietary Supplement: Placebo Dietary Supplement: Flaxseed Oil
MeSH: Dyslipidemias
HPO: Abnormal circulating lipid concentration

The Effect of Flaxseed Oil Supplementation on Biomarkers, Quality of Life and Cognitive Function in Hypertensive and Dyslipidemic Subjects With or Without the C677T and A1298C Polymorphisms in MTHFR Gene in Different Municipalities of Rio de Janeiro. --- C677T --- --- A1298C ---

Supplementation With Flaxseed Oil in the State of Rio de Janeiro The purpose of this study is to evaluate the effect of supplementation with flaxseed oil combined with a nutritional counseling in reducing cardiovascular risk factors in homocysteine , biomarkers of inflammation, oxidative stress, improving quality of life and cognitive decline in hypertensive and dyslipidemic genotyped for the C677T and A1298C polymorphisms of methylenetetrahydrofolate reductase gene. --- C677T --- --- A1298C ---

To evaluate the effect of nutritional counseling associated with linseed oil supplementation on biomarkers estutados according to the C677T and A1298C polymorphisms of the MTHFR gene.. Cognitive decline. --- C677T --- --- A1298C ---

Our goal is to evaluate the effect of supplementation with flaxseed oil combined with nutritional counseling in reducing cardiovascular risk factors in homocysteine, biomarkers of inflammation, oxidative stress, improving quality of life and cognitive decline in hypertensive individuals dyslipidemic and genotyped for polymorphisms C677T and A1298C methylenetetrahydrofolate reductase gene (MTFHR). --- C677T --- --- A1298C ---

Will be collecting information on the socio-economic status of study participants through a structured questionnaire will be carried out assessment of food consumption - frequency of consumption and 24 hours, clinic - blood pressure, anthropometric - height, weight, waist circumference and BMI, body composition - bioelectrical impedance analysis, biochemical tests - lipid profile, blood glucose, insulin, homocysteine, serum folate concentrations in erythrocytes and, cobalamin, vitamin C, E and A, minerals - zinc, iron, copper and selenium, markers of oxidative stress and inflammatory response and molecular analysis - C677T and A1298C polymorphisms of methylenetetrahydrofolate reductase gene. --- C677T --- --- A1298C ---

Our results demonstrate the effectiveness of supplementation with flaxseed oil, in reinforcing the results of nutritional counseling in reducing cardiovascular risk factors and biomarkers studied, besides adding to the knowledge about the interactions between markers of inflammation, oxidative stress with oil supplementation flaxseed and polymorphisms C677T and A1298C MTHFR gene, on which there are no reports in the literature. --- C677T --- --- A1298C ---

Primary Outcomes

Description: To evaluate the effect of nutritional counseling associated with linseed oil supplementation on biomarkers estutados according to the C677T and A1298C polymorphisms of the MTHFR gene.

Measure: Polymorphisms

Time: Up to 3 months

Secondary Outcomes

Description: To evaluate the effect of nutritional counseling associated with linseed oil supplementation on cognitive decline.

Measure: Cognitive decline

Time: Up to 3 months

Description: To evaluate the effect of nutritional counseling associated with linseed oil supplementation on Quality of life.

Measure: Quality of life

Time: Up to 3 months

Description: To evaluate the effect of nutritional counseling associated with linseed oil supplementation on biomarkers of oxidative stress.

Measure: Oxidative stress

Time: Up to 3 months

Description: To investigate the effect of supplementation of flaxseed oil combined with nutritional guidance on lipid profile, according to the consumption of saturated fat.

Measure: Lipid profile

Time: Up to 3 months

4 Clinical Response and Homocysteine Reduction Using Reduced B-Vitamin Therapy in MTHFR C677T/A1298C Patients With Major Depressive Disorder : an Analysis of Findings

A randomized double-blind placebo controlled study of reduced B vitamins in patients with major depression who were positive for one or both of the common MTHFR polymorphisms was conducted between 8/1/2014 and 4/3/2015. Homocysteine levels and MADRS scores were used as primary measures. The study was designed to test safety and efficacy of reduced B vitamins in MDD associated with MTHFR. This study examines the data from the trial to see effects, effect sizes, and further, if demographic factors and other patient characteristics correlated with findings.

NCT02709668 Depression Dietary Supplement: Enlyte Other: placebo
MeSH: Depression Depressive Disorder
HPO: Depressivity

330 adult patients with MDD (DSM-5), and positive for MTHFR C677T and/or A1298C polymorphisms were enrolled in a trial conducted between August 1, 2014, and April 3, 2015. --- C677T --- --- A1298C ---

Primary Outcomes

Description: plasma homocysteine levels measured

Measure: Homocysteine levels

Time: baseline and week 8 of study

Secondary Outcomes

Description: standard measure of depression

Measure: Montgomery Asberg Depression Rating Scale

Time: baseline, week 2, week 8

5 5-Methyltetrahydrofolate Survival and Inflammation in ESRD Patients

A randomized prospective study was done to determine whether i.v. 5-methyltetrahydrofolate vs oral folate improved survival in ESRD patients. Homocysteine, CRP, Lp(a), albumin, folates, vitamin B6 and B12 were checked. The 5-MTHF treated group was associated with lowered C reactive protein and higher survival than the folate treated group.

NCT00626223 Mortality Hyperhomocysteinemia Inflammation Drug: 5-MTHF (5-methyltetrahydrofolate) Drug: folic acid
MeSH: Inflammation Hyperhomocysteinemia

Gene polymorphisms analysis on C677T and A1298C loci and differences in polymorphisms distribution in both groups. --- C677T --- --- A1298C ---

Primary Outcomes

Measure: survival

Time: 55 months

Secondary Outcomes

Measure: Risk factors for cardiovascular disease in ESRD patients

Time: 55 months

Measure: Homocysteine levels after 6, 12, 24 and 55 months

Time: 55 months

Measure: CRP levels after 6, 12, 24 and 55 months

Time: 55 months

Measure: Gene polymorphisms analysis on C677T and A1298C loci and differences in polymorphisms distribution in both groups

Time: basal

Measure: Differences at baseline between the groups concerning age, dialysis age, CRP, albumin, haemoglobin, Lp(a), homocysteine, folate, B6 and B12 baseline levels

Time: basal


HPO Nodes


Colon cancer
Genes 39
FOXE1 PMS1 APC MLH1 CDKN2A KRAS PRKAR1A FLCN TGFBR2 MSH6 COL14A1 RPS19 BMPR1A HABP2 PMS2 MSH2 MSH3 MLH3 GREM1 MINPP1 BRCA1 BUB3 BRCA2 CEP57 AAGAB TRIP13 EPCAM PIK3CA PALLD NTHL1 PALB2 MUTYH TP53 AXIN2 SMAD4 BUB1 SH3KBP1 BUB1B FAN1
Spontaneous abortion
Genes 21
MGP MPL GPHN FGA MTMR14 FGB JAK2 HOXA13 MYF6 SERPINC1 SYCP3 XIST BIN1 F13A1 F13B RYR1 HTR1A DNM2 FGG THPO WRN
Depressivity
Genes 240
VAPB NHLRC1 GABRB3 GABRG2 CTSF ERBB4 CHCHD10 SPAST ATP7B PSAP PSEN1 ATRX PDGFB MYO7A PDGFRB MAPT AMACR RPS6KA3 MATR3 TBC1D7 CYP27A1 LRRK2 GBA CDH23 HMBS DAO PTPN22 RPS20 PDZD7 GCH1 ADGRV1 GPR101 RREB1 PFN1 COQ2 BCR DCTN1 BCS1L ATXN8 HNRNPA1 MECP2 FGF17 TTC19 HIRA NEFH PPARGC1A NEK1 BMPR1A ANOS1 AP2S1 PANK2 KISS1R GLA PER3 CLCN4 PER2 ALMS1 AARS2 CEP78 PROKR2 ATXN2 FIG4 PIK3CA ATXN8OS GLE1 PTS SQSTM1 USH1G KCNJ2 HS6ST1 DGUOK C19ORF12 UFD1 AFG3L2 PCDH15 MLH1 CLN6 FGF8 PLA2G6 SGCE GNA11 CACNA1H CACNA1G TAC3 FGF14 FGFR1 ATXN10 TACR3 GNAS SEMA4A DNA2 KISS1 USH2A CLRN1 GNRH1 KCNT1 GNRHR CFAP410 TBX1 NOTCH3 VCP DNMT1 PDE11A GP1BB TBP PMS1 PROK2 WHRN KRAS TCF4 PMS2 DRD2 DNAJC13 EPM2A CIB2 FMO3 UBQLN2 ANG FMR1 COMT SLC25A4 CLIP2 CISD2 WFS1 GPR35 FA2H RRM2B POLG ANXA11 DUSP6 NR4A2 PON1 TOR1A PON2 PON3 BAZ1B CP TWNK CASR GRN XK MSH2 CHD7 OCRL AIP CPOX RFC2 GTF2IRD1 IDUA USH1C ATP13A2 CBS JMJD1C SLC2A1 MSTO1 ARSG CRKL KCTD17 CHMP2B PPOX FAN1 CCNF MST1 TMEM106B TGFBR2 TARDBP MSH6 USP8 LIMK1 PPP2R2B OPTN MLH3 GTF2I ARSA SNCAIP NSMF CSF1R SEC24C COX1 LMNB1 COX2 COX3 PPT1 ARVCF WDR11 SLC18A2 TK2 SLC20A2 JRK TBK1 ND1 ARMC5 VPS35 SPRY4 ND4 ND5 EIF4G1 ND6 PAH PRKACA TREM2 EHMT1 PRKAR1A GIGYF2 DNAJC5 TRNF PRKCG TRNH TAF15 ELN TRNL1 TRNL2 FUS TRNN MAPK1 COASY HARS TRNQ ATP1A3 TRNS1 SNCA TRNS2 C9ORF72 POLG2 TRNW STX16 HBB EPCAM TNXB TBL2 UNC13A PRNP SOD1 HTT GABRA1 PINK1 JPH3 EPHA4 XPR1 PRPH
Stillbirth
Genes 23
COL2A1 ESCO2 LMNA SLC35D1 OSTM1 GBA CENPF HYLS1 GDF5 TRIP11 SLC26A2 FLNA FLNB MUSK PTH1R NEK8 PHGDH COL11A1 ALPL LBR RNU4ATAC ZMPSTE24 NSDHL
Abnormal circulating lipid concentration
Genes 190
NPC1 GPD1 NPHS1 TBXAS1 PLA2G7 LDLRAP1 UBR1 IL12A FLII IL12RB1 HNF1A PNPLA2 ABCA1 SLC29A3 SLC25A20 SETX SLC52A1 PLVAP DEAF1 ZMPSTE24 PNLIP ACADL SPIB ACADM NUP107 MYO5A ACADVL CLIP2 APOA5 CYP7A1 CETP CYP11A1 ACAD9 POLD1 FOS SYNE1 CYP19A1 NADK2 UBE3B PEX3 APTX IQSEC2 CYP27A1 AGPAT2 PSMB4 TMEM199 MC4R PSMB8 PSMB9 PEX1 PEX6 BAZ1B PEX7 PEX10 HMBS PEX12 PEX13 POU2AF1 XIAP PEX14 UNC13D APOA1 IRF5 ACTN4 NPC2 APOB HMGCL TMEM43 APOC2 OCRL APOC3 CAV1 LBR CAV3 LCAT APOE CCDC115 PPARG CPT1A RFC2 XRCC4 PEX11B SLC7A7 CPT2 GTF2IRD1 NSMCE2 HNF4A TFG TTPA LDLR AR LEP LEPR ACOX2 PEX26 POLR3A NSDHL GHR TRMU PHKA2 PHKG2 HSD3B7 LIMK1 PHYH NPHS2 LIPA GK LIPC LIPE FBN1 PANK2 GTF2I ACAD8 ABHD5 MMEL1 GPIHBP1 GLA SLC12A1 STXBP2 LMNA ALMS1 PIGH MSMO1 CCT5 SC5D KCNJ1 SGPL1 PRF1 ABCC8 AGL CIDEC DHCR7 SLC25A13 JAG1 DHCR24 GYS2 KCNJ11 LPL UCP2 SAR1B SLC22A5 SYNE2 EBP FECH DYRK1B PEX19 PEX16 ANGPTL3 DCAF17 MTTP PEX2 PEX5 FLCN DLD TRNE PYGL AKT2 SMPD1 CAVIN1 BSCL2 ALB ELN TRNK ABCD1 TRNL1 LTC4S CTNS HADH EMD TANGO2 TDP1 FHL1 PLIN1 STX11 G6PC RSPO1 PIK3R5 TNFSF15 SLC37A4 TNPO3 COG4 TBL2 ABCG5 RAB27A ABCG8 DGAT1 RAI1 PCSK9 CEP19 PMM2