SNPMiner Trials by Shray Alag


SNPMiner Trials: Mutation Report


Report for Mutation E298D

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

There are 3 clinical trials

Clinical Trials


1 Acute Elevation of Non-esterified Fatty Acids on Endothelial Function and Insulin Sensitivity: A Comparison of Saturated and Long Chain n-3 Polyunsaturated Fatty Acids During the Postprandial Phase

Experimental elevation of non-esterified fatty acids (NEFA) impairs endothelial function and insulin sensitivity but the impact of NEFA composition is unknown. The objective was to test the effect of acute elevation of NEFA enriched with either saturated fatty acids (SFA) or SFA with long-chain n-3 polyunsaturated fatty acids (LC n-3 PUFA) on postprandial vascular function measured via flow-mediated dilatation (FMD), laser Doppler iontophoresis (LDI) and digital volume pulse (DVP), followed by a hyperinsulinaemic-euglycaemic clamp as a measure of whole body insulin sensitivity.

NCT01351324 Cardiovascular Risk Factors Dietary Supplement: Absence or presence of fish oil
MeSH: Insulin Resistance
HPO: Insulin resistance

Inclusion Criteria: - Healthy - Either homozygous for eNOS Glu298 (wildtype)or eNOS Asp298 (variant) Exclusion Criteria: - Smokers - Raised fasting blood lipids - Taking excessive fish oil supplements (>1g EPA/DHA per day) - Taking medication known to influence blood lipids, blood pressure or blood clotting Inclusion Criteria: - Healthy - Either homozygous for eNOS Glu298 (wildtype)or eNOS Asp298 (variant) Exclusion Criteria: - Smokers - Raised fasting blood lipids - Taking excessive fish oil supplements (>1g EPA/DHA per day) - Taking medication known to influence blood lipids, blood pressure or blood clotting Cardiovascular Risk Factors Insulin Resistance To investigate potential diet-gene interactions, potential subjects (n=370) were prospectively genotyped for the eNOS Glu298Asp polymorphism, of which 35 were Asp298 and 150 were Glu298 homozygotes. --- Glu298Asp ---

Primary Outcomes

Measure: Flow-mediated dilatation

Time: Change from baseline to 240 min

Measure: Flow-mediated dilatation

Time: Change from 240 min to 390 min

Secondary Outcomes

Measure: Digital volume pulse

Time: Change from baseline to 240 min

Measure: Laser Doppler iontophoresis

Time: Change from baseline to 240 min

Measure: Insulin sensitivity

Time: 390 min

Measure: NEFA composition

Time: Change from baseline to 240 min

Measure: Circulating endothelial function markers

Time: Change from baseline to 240 min

Measure: Digital volume pulse

Time: Change from 240 min to 390 min

Measure: Laser Doppler iontophoresis

Time: Change from 240 min to 390 min

Measure: Circulating endothelial markers

Time: Change from 240 min to 390 min

2 The Effects of Beetroot Bread on Postprandial Blood Pressure According to Glu298Asp Polymorphism in the eNOS Gene

The Glu298Asp polymorphism has been linked to increased risk of cardiovascular events, proposed to be due to reduced nitric oxide production by eNOS reported in some but not all studies. We hypothesise that beetroot-enriched bread interacts with the Glu298Asp polymorphism of the eNOS gene to lower blood pressure and increase plasma nitrate/nitrite, particularly in carriers of the T allele, which have been associated with lower eNOS activity and increased risk of hypertension.

NCT02037308 Hypertension Dietary Supplement: Bread

The Effects of Beetroot Bread on Postprandial Blood Pressure According to Glu298Asp Polymorphism in the eNOS Gene. --- Glu298Asp ---

Glu298Asp Polymorphism and Blood Pressure The Glu298Asp polymorphism has been linked to increased risk of cardiovascular events, proposed to be due to reduced nitric oxide production by eNOS reported in some but not all studies. --- Glu298Asp ---

Glu298Asp Polymorphism and Blood Pressure The Glu298Asp polymorphism has been linked to increased risk of cardiovascular events, proposed to be due to reduced nitric oxide production by eNOS reported in some but not all studies. --- Glu298Asp --- --- Glu298Asp ---

We hypothesise that beetroot-enriched bread interacts with the Glu298Asp polymorphism of the eNOS gene to lower blood pressure and increase plasma nitrate/nitrite, particularly in carriers of the T allele, which have been associated with lower eNOS activity and increased risk of hypertension. --- Glu298Asp ---

Primary Outcomes

Measure: Postprandial blood pressure

Time: 30 minute intervals for a period of 6 hours

Secondary Outcomes

Measure: Postprandial plasma NOx

Time: 30 minute intervals for a total period of 6 hours

3 Endothelium-Dependent Vasoreactivity in Nitric Oxide Synthase Gene (Glu298Asp) Polymorphism: Studies in Healthy Volunteers

The objective of the study is to assess the impact of genetic variation (especially polymorphisms of the gene coding endothelial nitric oxide synthase (eNOS) and the bradykinin B2 receptor gene) on venous and arterial responsiveness to vasodilators in healthy individuals without cardiovascular risk factors.

NCT00160888 Healthy Drug: sodium nitroprusside, bradykinin, acetylcholine

Endothelium-Dependent Vasoreactivity in Nitric Oxide Synthase Gene (Glu298Asp) Polymorphism: Studies in Healthy Volunteers. --- Glu298Asp ---

Primary Outcomes

Measure: Study I: Venous responsiveness assessed by dorsal hand vein compliance technique

Measure: Study II: Forearm blood flow assessed by venous occlusion plethysmography


HPO Nodes


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