SNPMiner Trials by Shray Alag

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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation E298D

Developed by Shray Alag, 2020-2021.
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
Conditions
  1. Cardiovascular Risk Factors
Interventions
  1. 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
Conditions
  1. Hypertension
Interventions
  1. Dietary Supplement: Bread
MeSH:Hypertension
HPO:Hypertension

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
Conditions
  1. Healthy
Interventions
  1. 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


HP:0000822: Hypertension
Genes 424
MAT2A WT1 LMNA HGD FN1 TRNL1 SERPINA6 YY1AP1 TRNK BBIP1 GTF2IRD1 TRNC KCNJ5 CLCN2 MGP TGFBR2 BBS1 CYP11B2 RET ARVCF KCNJ5 EGFR OSGEP SH2B3 TRNS2 SLC2A10 NKX2-5 LMNA RREB1 IFT172 LZTFL1 ND1 FBN1 FMO3 HLA-DPA1 GUCY1A1 APOB SCNN1G CEP164 BBS10 FUZ SDHB MUC1 REST ABCC6 TTC8 CLIP2 H19 ELN FGFR2 GATA5 PKD1 NF1 NPHP1 KCTD1 WNK4 HIRA GP1BB GNAS IRF5 EDA2R LMX1B NFU1 PLIN1 MEN1 SEC24C ELN GNAS COL3A1 NPHP1 SLC37A4 ERCC8 HLA-DPB1 NOTCH1 CFHR1 THSD1 SDCCAG8 DLST PKHD1 PPOX ACTN4 DNMT3A NOD2 SCNN1B C8ORF37 ECE1 XYLT1 ACTA2 GDNF CTLA4 PAM16 EPAS1 BBS4 ARL6 CCR6 DNAJB11 CDH23 ENPP1 WT1 DIS3L2 PKD2 MFAP5 GLA PKD2 NPHP1 TRNW NF1 IFT27 BANF1 CFI LMNA WNK1 WT1 ARHGAP31 SMARCAL1 FGFR2 STAT2 ACVRL1 CEP290 ADA2 NF1 SDHAF2 ENPP1 PRKAR1A IQCB1 PRTN3 TET2 SMAD6 XYLT2 NOD2 SDHD HPSE2 MYH11 SDHD COX1 PDE8B CAV1 C3 SMAD4 SCNN1G ELP1 USP8 EXT2 USP8 KIF1B SLC25A11 FBN1 CBS WDPCP BBS9 BRCC3 ACAT1 SPRY2 TRNF STAT1 SUGCT ELP1 SCNN1A GPR101 PPARG ZMPSTE24 MAX LRIG2 TRNS1 GJA1 ERCC8 BSCL2 CYP11B1 NPHP3 TRNE FIG4 CCND1 CD2AP KCTD1 TRAF3IP1 TRNK GBA TGFB2 CYTB HMBS GLA TRIM32 EDA SDHC TNFRSF11A LDLRAP1 MMP2 XPNPEP3 PKD1 KIF1B ABCC6 TRIM28 SDHB SDCCAG8 ALMS1 MAFB FN1 PTPN22 ACP5 ERCC4 LEMD3 CYP11B1 BBS7 SDHB LDLR SCNN1A NPHP4 KRT18 HSD11B2 CDKN1B CCN2 CUL3 GANAB PDE3A VANGL1 TSC2 ACTA2 PCSK9 CEP19 CFB SMAD4 MTTP COL4A5 LYZ FOXE3 IDS PRKG1 SLC37A4 PHF21A GUCY1A1 B2M RET INVS KCNJ5 PPARG WRN PLIN1 BMPR2 CDKN2C MMP14 VHL POU6F2 ELN COL4A3 CPOX ABCB6 CDH23 LMX1B THBD KIF1B SLC2A10 PDE11A JMJD1C CYP17A1 TRNK TBX1 IL12B COQ7 TBL2 TBX1 WDR19 LRP6 FMR1 SDHD CORIN RFC2 CACNA1H CYP11B1 MKKS ADA2 LIMK1 NOTCH3 MKS1 FLT1 BBS1 CACNA1D YY1AP1 CDKN2B ND6 LMNA MLX VAC14 PKHD1 TRIP13 PDE11A MEF2A IDS TRIM28 NDUFAF6 NOS3 TRNQ SDHB SDHC STOX1 SMAD3 ALX4 APRT LOX OFD1 IDUA TMEM127 COL3A1 AIP FBN1 LMNA CFH WT1 VHL NR3C1 CYP17A1 TSC1 ALMS1 SMAD4 POU3F4 FGA HMBS TP53 HBB ARMC5 BRCA2 SDHA CACNA1D ABCG5 RET UFD1 TREX1 NOTCH2 ABCC6 G6PC1 ARMC5 SCNN1B CCDC28B GTF2I JAK2 KLHL3 BBS5 MYH7 ERCC6 APOA1 TRNV TMEM127 TGFBR1 GNAS FBN1 ARL6 GCH1 COX2 MDH2 NFIX OFD1 AIP COL4A3 WDR35 ENG MAX CFHR3 TMEM70 NSMCE2 LARS2 LEMD3 ND5 CYP21A2 NR3C1 DZIP1L BNC2 VHL BICC1 ERCC6 PRKACA MC4R PRKACA ADA2 CYP11B1 INF2 HLA-DRB1 MYLK TGFB3 MTRR MYMK POR COL4A4 JAK2 SDHD SCN2B CEP290 ITGA8 FH DYRK1B TRPC6 HLA-B PRKAR1A MLXIPL BBS12 MDM2 MPL TMEM237 VHL BBS2 PDE3A NR3C2 KRT8 GPC3 PRKAR1A BAZ1B ERCC4 VHL TGFBR3 CDKN1A COMT WT1 SLC25A11 RET COX3 AIP ABCG8 HSD11B2 GANAB TMEM67 CD46 ADAMTSL4 TNFRSF11B ANGPTL6 INVS TRNL1