SNPMiner Trials by Shray Alag


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Report for Mutation I191V

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Effect of Fructose and Glucose and TAS1R2 in Glucose, Triglycerides, Uremia, Oxidative Stress, Feelings Related to Food Intake of Individuals With Type 1 Diabetes

- BACKGROUND: Individuals with diabetes report innate preference for sweet foods, possibly due to genetic variants. In addition, studies have shown that ingestion of fructose promotes lower postprandial blood glucose, compared to glucose. However, excessive intake may increase triglycerides, uric acid and oxidative stress, due to oxidative priority. - AIMS: To investigate the influence of fructose and glucose and taste receptor, type 1, member 2 (TAS1R2) in glucose, triglycerides, uremia, oxidative stress, feelings related to food intake and palatability of individuals with type 1 diabetes. - METHODS: The trial is a single-blind, two-way crossover (1-week washout) study in 30 subjects with type 1 diabetes. Blood samples were collected before and 2-hours after the participants receive 75g of fructose or 75g of glucose dissolved in 200 ml water. Capillary blood glucose were assessed at 30, 90, 120, and 180 minutes to determine glucose, and visual analogue scales for measurement of appetite sensation were assessed at 70, 120, and 190 minutes. - PURPOSE: The research proposal adds knowledge about the TAS1R2 (Ile191Val) polymorphism and around the most suitable monosaccharide for individuals with diabetes type 1.

NCT01713023 Type 1 Diabetes Dietary Supplement: Glucose Dietary Supplement: Fructose
MeSH:Diabetes Mellitus Diabetes Mellitus, Type 1
HPO:Diabetes mellitus Type I diabetes mellitus

- PURPOSE: The research proposal adds knowledge about the TAS1R2 (Ile191Val) polymorphism and around the most suitable monosaccharide for individuals with diabetes type 1. Compare the effects of fructose and glucose and TAS1R2 in postprandial metabolism of individuals with type 1 diabetes. --- Ile191Val ---

We will determine whether Ser9Cys (dbSNP: rs9701796) and Ile191Val (dbSNP: rs35874116)variations in TAS1R2 were associated with differences the sweet taste perceptions.. Effect of fructose or glucose on blood glucose. --- Ser9Cys --- --- Ile191Val ---

The Ile191Val (rs35874116) polymorphism in TAS1R2 gene will be detected by using a TaqMan allelic discrimination assay (ABI number C_55646_20; Applied Biosystems, Foster City, CA) with real-time polymerase chain reaction on an ABI 7000 Sequence Detection System (Applied Biosystems). --- Ile191Val ---

Primary Outcomes

Description: Determine the blood glucose, triglycerides, oxidation of substrates, uremia, oxidative stress, feelings related to food intake of individuals with type 1 diabetes, before and 3-hours after ingestion of 75g of fructose or 75g of glucose.

Measure: Compare the effects of fructose and glucose and TAS1R2 in postprandial metabolism of individuals with type 1 diabetes

Time: baseline up to 3 hours each day study. Total study: 2 years

Secondary Outcomes

Description: Determine the peak plasma blood glucose before and 3-hours after ingestion of 75g of fructose or 75g of glucose. We also test capillary blood glucose before and 30, 90, 120, and 180 minutes after solutions.

Measure: Effect of fructose or glucose on blood glucose

Time: Baseline, and up to 3-hours after solutions

Description: Determine the triglycerides levels before and 3-hours after ingestion of 75g of fructose or 75g of glucose.

Measure: Effect of fructose or glucose on triglycerides levels

Time: Baseline, and up to 3-hours after solutions

Description: Determine the uric acid, pyruvic acid, and lactate levels before and 3-hours after ingestion of 75g of fructose or 75g of glucose.

Measure: Effect of fructose or glucose on uric acid, pyruvic acid, and lactate

Time: Baseline, and up to 3-hours after solutions

Description: Determine the malondialdehyde level before and 3-hours after ingestion of 75g of fructose or 75g of glucose.

Measure: Effect of fructose or glucose on oxidative stress

Time: Baseline, and up to 3-hours after solutions

Description: TAS1R2 (taste receptor, type 1, member 2 T1R2) is the component specific to sweet taste perception, and does not change during the life. We will determine whether Ser9Cys (dbSNP: rs9701796) and Ile191Val (dbSNP: rs35874116)variations in TAS1R2 were associated with differences the sweet taste perceptions.

Measure: Effect of two polymorphisms in the gene TAS1R2 in the sweet taste perception

Time: only at baseline

Description: Determine the peak plasma blood glucose before and 3-hours after ingestion of 75g of fructose or 75g of glucose. We also test capillary blood glucose before and 30, 90, 120 and 180 minutes after solutions.

Measure: Effect of fructose or glucose on blood glucose

Time: Baseline, and up to 3-hours after solutions

Description: Two different visual analogue scales will be used to assess hunger, satiety, fullness, prospective food consumption, palatability, taste, aftertaste, smell, and visual appeal of the solutions. The scales will be performed at 7, 35, 95 and 120 minutes after solutions.

Measure: Effect of fructose or glucose on appetite and palatability

Time: Baseline, and up 120 minutes

Description: Determine the glucagon levels before and 3-hours after ingestion of 75g of fructose or 75g of glucose

Measure: Effect of fructose or glucose on glucagon levels

Time: Baseline, and up to 3-hours after solutions

Description: Determine the leptin levels before and 3-hours after ingestion of 75g of fructose or 75g of glucose

Measure: Effect of fructose or glucose on leptin levels

Time: Baseline, and up to 3-hours after solutions


HPO Nodes


HP:0000819: Diabetes mellitus
Genes 530
IL2RA HGSNAT ABCC8 RP1 APPL1 ND5 TCF4 GPR101 TRNS2 INSR IER3IP1 TWNK RRM2B HYMAI MAK BSCL2 IFT172 SPINK1 BEST1 XRCC4 HNF1B FSCN2 CTRC PWRN1 TRNL1 KCNJ11 ATM STOX1 ABCC8 ENPP1 CRX COX3 BBS2 CRB1 IGF1R PRKACA TINF2 FOXP3 KCNJ11 TRNS1 IRS2 MAFA HNF1B RP9 PDE4D MST1 TRNL1 WFS1 LMNB2 KLF11 GLIS3 SUFU PDE4D ATP6 DNAJC21 PRPF4 KCTD1 ND1 TUB CYTB RHO INS HBB NDUFS1 CLCNKB ZFYVE26 HFE COX2 CTRC INS GCK EIF2AK3 SAG KRAS GLI2 PALB2 CORIN USH2A NHP2 BSCL2 PRPF6 FGF8 PDX1 LIPE RNASEH2A CNGA1 TDGF1 MERTK AEBP1 PDE11A CP PPP1R3A FOS ARHGEF18 PLCD1 SLC29A3 IDH3B LMNA ND1 TRNQ PRPF3 SLC7A14 NDP XRCC4 PAX4 PDX1 MAPK8IP1 ND3 SNORD116-1 SLC2A2 IPW PTF1A INS CEL PAX4 PTF1A LIG4 HMGA2 HMGA1 NDUFS2 TRNS1 RETN POLD1 PPARG ALMS1 PROK2 FGFR1 PCNT INS LRP6 CAT HNF1A CTNNB1 COX2 INSR POLG2 SCAPER PRCD PCARE HYMAI CFTR DHDDS ZIC2 SLC25A4 LEPR BLM GJA1 KCNJ11 ZNF513 FBN1 AKT2 MMP2 LEP ARMC5 CAV1 PTPN22 GUCA1B GCK GCK PDE8B LMNA NEUROG3 FXN GATA6 SLC16A2 SNORD115-1 PAX4 BMP2 TRNL1 AMACR PTPN1 RAC1 PPARG GJA1 FLT1 PNPLA2 ZFP57 BRCA2 STAT1 SLC30A8 SBDS PDX1 POC1A ROM1 C8ORF37 PDE6B DISP1 CTNS PDE6G COX1 ZMPSTE24 IRS1 GCK LIPE ELN ABCC8 FXN DKC1 RGR HNF1A ND5 SIX3 ND4 TREX1 PROM1 SEMA4A CNBP ARL6 MEN1 TRNQ CPA1 HNF1A CAV1 ABCA4 MAGEL2 ELN TULP1 COX1 REEP6 ABCC8 NDUFA11 PLIN1 NDUFAF2 GCK DHX38 WRN HLA-DRB1 GJB4 NDUFB9 FOXP3 LEMD3 PPARG FOXRED1 DLL1 NDUFS7 MMP14 RP2 WRN RLBP1 SARS2 WRAP53 EFL1 RFC2 SLC19A2 NDUFAF1 TERC CFTR ND6 CDKN2A LMNA SPINK1 STAT3 UBR1 CIDEC ND6 DNAJC3 PLIN1 WFS1 ZFP57 ATM STUB1 HNF1B ARL3 IFT88 BRCA1 CEL TRNC OFD1 TERT DCAF17 TRNF NODAL MKRN3-AS1 NDUFA6 PNPLA2 SPINK1 NDUFAF4 PIK3R1 RDH12 STAT3 ND2 ITCH HNF1A FOXC2 APPL1 IDH3A CASR CNOT1 EDA2R PLAGL1 CYP19A1 POMGNT1 INSR AGPAT2 SLC12A3 WFS1 CISD2 GLRX5 HNF4A IL6 LIMK1 LHX1 TBL2 INS BLK PNPLA6 USP8 SLC29A3 RNASEH2B ZMPSTE24 ARL2BP IMPG2 TWNK TRNF TGIF1 GATA3 ZBTB20 RBP3 KIZ SRP54 PRPF8 TOPORS PEX10 DNM1L GJB3 NDUFS4 DNAJC3 ITPR3 RPGR FUZ NDUFS3 SOX2 GATA6 HERC2 PEX1 TRNW PDX1 TKT FAM161A AR LEPR HNF1A NSMCE2 WFS1 IFIH1 ELMO2 ARNT2 TP53 CEP19 NDUFS6 BBS1 FGFR1 HYMAI NDUFAF3 CLIP2 NDUFV1 SLC19A2 INSR NR2E3 MKKS KIAA1549 TMEM126B CP PPP1R15B KLHL7 CNGB1 GCK GCGR PTRH2 MC4R ADAR APOA5 GAS1 TIMMDC1 STAT1 AGBL5 PARN EIF2AK3 SHH FOXH1 NDUFAF5 PROKR2 WFS1 CA4 KDSR SPINK1 HNF1A TRNK KCNJ11 USB1 PAX4 EYS NEK2 PRSS1 CERKL NDUFS8 ND1 LMNA TRNK MKRN3 ERGIC1 BRAF HNF1B MOG RTEL1 POLG CCDC28B CDH23 PEX6 TRNV NDN LMNA NDUFB10 PIK3R1 KCNJ11 ZNF408 HESX1 KCNJ11 UBR1 GNAS PRSS1 ALMS1 HBB BBS2 GCK CDHR1 PRPF31 SMAD4 AIP NEUROD1 HAMP NDUFB11 TTPA TRNE AKT2 ABCC8 DMXL2 GTF2I CTRC TRNW COX3 POLR3A MTNR1B IL2RA LRAT PRKAR1A KCNJ11 HNF4A PRPH2 RNASEH2C LMNA CLRN1 TRNH OPA1 NPM1 ABCC8 HFE NRL PDE6A APOE GPR35 HNF4A AIRE TRNS2 MLXIPL GPD2 LMNA TTC8 SAMHD1 EDA TP53 NUBPL SNRPN TRMT10A NKX2-5 PWAR1 RPE65 PDX1 IGF2BP2 PRSS2 PRKACA AHI1 CAVIN1 PTCH1 BLK PPARG SPATA7 NPAP1 EIF2S3 BAZ1B SNRNP200 HNF4A POLA1 AHR NEUROD1 NDUFV2 PDX1 PSTPIP1 HJV AIP PALLD HLA-DQB1 TRNE TCF7L2 CTC1 NSMCE2 TTC7A NOP10 OTX2 PRSS2 PRKAR1A XRCC4 SOX3 HNF4A IMPDH1 NDUFB3 IFT140 DCAF17 KLF11 NEUROD1 FOXP1 CDON LIPC PLAGL1 CISD2 NDUFA1 PRSS1 GTF2IRD1 VANGL1 AGPAT2