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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation E298D

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 3 clinical trials

Clinical Trials


1 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

2 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

3 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


HPO Nodes


HP:0000822: Hypertension
Genes 421
ELN FBN1 SDCCAG8 PRKAR1A ALX4 LIMK1 PDE11A NR3C2 FBN1 KCTD1 VHL GP1BB ANGPTL6 ENPP1 MLXIPL NKX2-5 LEMD3 NOTCH2 SLC37A4 RET SEC24C BBS12 NPHP1 MMP14 EGFR HLA-DPB1 KCTD1 ABCG8 SCNN1A SLC25A11 COX3 CYTB TRAF3IP1 HGD MEF2A VHL PKD1 TRIP13 GANAB RPGRIP1L ITGA8 CDH23 BBS7 ELN DIS3L2 SMARCAL1 GATA5 PKD2 NPHP3 KIF1B JMJD1C UFD1 ARMC5 CCR6 SERPINA6 KLHL3 LMX1B BRCA2 GTF2I YY1AP1 TNFRSF11B LMNA CTLA4 G6PC NOTCH1 MDM2 WDR19 MAFB TRPC6 RET LMNA ERCC4 XYLT2 SDHB CACNA1D TMEM67 LZTFL1 ERCC4 COQ7 MYLK KIF1B PTPN22 COL4A5 NPHP1 DNMT3A SCNN1A CACNA1D BBS9 CDH23 WT1 FGFR2 TGFB2 GLA BICC1 TTC8 ND1 ADA2 WDPCP ARHGAP31 ARL6 AIP FGFR2 ALMS1 INVS FBN1 VHL WT1 IDUA SMAD4 CFHR3 PDE11A WNK1 NPHP1 WRN SLC2A10 SMAD6 OSGEP ABCC6 LRIG2 SDHB PRKACA FLT1 INVS HBB POU3F4 NOTCH3 LMNA MC4R PRKACA HLA-DRB1 TRNK MYH7 HSD11B2 MYH11 VANGL1 EDA2R PHF21A MDH2 MKS1 BBS2 DNAJB11 TSC1 CFB MTRR GNAS MTTP PRKAR1A LMNA NF1 MUC1 ND6 HPSE2 CYP11B1 CUL3 EDA NPHP4 ALMS1 VAC14 TRNK SMAD4 THBD OFD1 STAT2 BBS5 SDHD PRKAR1A HMBS APOB ECE1 KCNJ5 REST RET MKKS FMO3 PRTN3 ERCC6 PKHD1 CFHR1 LRP6 CYP11B2 BBS10 SDHD FN1 PCSK9 CBS ZMPSTE24 SDCCAG8 ERCC8 CDKN1A IRF5 C3 TRNL1 PKD1 FUZ COX1 HLA-DPA1 MGP PLIN1 LDLRAP1 CLCN2 SH2B3 LYZ LOX MFAP5 GNAS CYP17A1 CYP11B1 B2M TMEM127 KCNJ5 PAM16 NR3C1 ACAT1 TRNK CDKN1B MEN1 SDHAF2 WT1 STAT1 BNC2 TGFB3 HMBS USP8 BBIP1 LMX1B GANAB HLA-B PDE8B IFT27 LMNA RREB1 MMP2 CYP11B1 TRNL1 ARVCF MLX GCH1 ABCC6 CLIP2 C8ORF37 OFD1 TBX1 CEP164 JAK2 NFU1 FH GJA1 SDHC BAZ1B CFH CYP21A2 JAK2 CEP290 CD2AP TRNQ TRIM32 STOX1 RFC2 AIP RET CYP11B1 LDLR SPRY2 TMEM70 NDUFAF6 GUCY1A1 WT1 CDKN2C TRNF POU6F2 ADA2 IFT172 ADAMTSL4 TRIM28 GNAS BMPR2 TMEM127 PKD2 CORIN CAV1 PRKG1 ABCB6 VHL SLC25A11 EXT2 MAT2A NFIX XPNPEP3 KCNJ5 GBA SCNN1B MAX CACNA1H ENG AIP ACTA2 TRNW ARMC5 H19 SDHD TRNS2 TSC2 COL4A4 BRCC3 FGA PDE3A USP8 SCNN1B FIG4 COX2 ELP1 WDR35 INF2 GPC3 SDHC ACTN4 ABCC6 SCN2B SLC2A10 TRNV SDHA COMT CYP17A1 WNK4 TBX1 SMAD4 BSCL2 ENPP1 SCNN1G BBS1 SUGCT GTF2IRD1 GLA CFI ACVRL1 MPL NOS3 BBS1 APRT APOA1 FOXE3 MAX TGFBR2 XYLT1 TP53 CCDC28B NOD2 ADA2 PLIN1 DLST CC2D2A FN1 COL4A3 BANF1 TGFBR3 SCNN1G LARS2 GDNF SLC37A4 PPOX PKHD1 CEP290 ACP5 KRT18 DZIP1L CCND1 ERCC8 GUCY1A1 TRNC CCN2 SMAD3 KRT8 SDHB FBN1 TGFBR1 SDHD POR COL4A3 BBS4 SDHB IL12B MYMK FMR1 ELN NF1 CEP19 CPOX ARL6 NR3C1 TET2 EPAS1 ND5 DYRK1B PDE3A ELP1 TRIM28 YY1AP1 CD46 TMEM237 TBL2 ERCC6 THSD1 CDKN2B HIRA ACTA2 WT1 KIF1B VHL NSMCE2 GPR101 COL3A1 ABCG5 HSD11B2 PPARG PPARG TNFRSF11A COL3A1 LEMD3 TRNS1 IQCB1 TRNE