SNPMiner Trials by Shray Alag


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Report for Mutation S9C

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

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 ---

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 528
PLIN1 ABCC8 CASR PRSS1 ELMO2 LIMK1 SOX3 PDX1 SLC2A2 PDX1 PDX1 HNF1A HYMAI SPINK1 GNAS COX1 REEP6 PRPF6 STAT3 ND2 SPINK1 KLF11 KIAA1549 WRN KCNJ11 LIG4 ARL6 EDA2R ELN KCNJ11 FOXH1 WFS1 PWAR1 HMGA1 RRM2B GPR35 LIPE PRSS2 WRAP53 STAT3 HAMP TRNC PPP1R3A ATM PAX4 MMP14 RDH12 CP ZNF408 BRAF TRNK TRNL1 ND4 TTC7A NDUFS3 NDUFV2 AEBP1 SPINK1 PSTPIP1 HMGA2 LRP6 LIPE PALLD TCF4 TRNQ CDKN2A TRNK TTPA INS NDUFB11 GJA1 PAX4 CEL PTCH1 PRSS2 XRCC4 BSCL2 SLC7A14 LMNB2 BBS2 PALB2 INSR TIMMDC1 NDUFAF8 NDUFB10 SIX3 AGBL5 WRN GAS1 COX3 PLAGL1 TREX1 PDX1 SMAD4 SLC19A2 LMNA CORIN PDE8B IL6 BEST1 CRX PRKAR1A WFS1 TGIF1 MST1 NDN GCK NDUFS6 CFTR RETN FOXRED1 RBP3 CNGB1 LIPC ZNF513 GPD2 UBR1 NDUFAF4 WFS1 FOS ABCC8 CISD2 TRNQ IFT140 HFE HYMAI IRS1 HNF4A RNASEH2B FGF8 ARMC5 APOA5 LEMD3 DCAF17 PPARG EDA TP53 DCAF17 AGPAT2 GLRX5 OFD1 TINF2 TRNS1 MAGEL2 APPL1 MAPK8IP1 ARL6 GTF2IRD1 PPARG TRNH NDUFS8 NDUFAF3 TDGF1 CDHR1 SNORD115-1 ZFYVE26 TMEM126B CP IGF2BP2 PTPN22 CAV1 CNGA1 DHDDS RFC2 KIZ MEN1 HBB XRCC4 TRNW PRPF8 FOXP1 ABCC8 LMNA NEK2 SNRPN LMNA MAK FGFR1 MMP2 CLIP2 GCK BBS2 HESX1 KCNJ11 ZFP57 PRKACA GLIS3 HNF1A VANGL1 NDUFS2 NEUROD1 NDUFV1 ABCA4 C8ORF37 TRNS2 DMPK LEP BRCA1 ADAR IFIH1 GCK CERKL NRL COX1 CTRC INS GJB4 WFS1 AIP RAC1 GJB3 SBDS ND5 PTF1A LMNA ITCH PROM1 PRSS1 PIK3R1 NEUROD1 HBB GCK CISD2 ND6 IMPDH1 TERT LEPR ALMS1 BRCA2 PRCD BMP2 CAT ELN KCNJ11 TRNL1 PNPLA6 PAX4 NDUFAF2 FOXP3 GATA6 PRPF4 PLAGL1 NODAL HNF1A CA4 TUB CAV1 RNASEH2C TTC8 POLR3A PIK3R1 NR2E3 HNF4A NDUFB3 POLA1 PWRN1 PRKACA PCARE AR INSR COX2 STOX1 IL2RA PDE4D BSCL2 HGSNAT CTNS DNAJC3 IGF1R KLF11 IPW GJA1 GCK DLL1 PEX10 HNF1B CTC1 DNM1L ND6 ARHGEF18 RP1 SLC25A4 NSMCE2 TRNL1 CLRN1 AHR STAT1 NDUFS7 ND1 OPA1 DNAJC3 NDUFAF5 ABCC8 AMACR NOP10 EIF2AK3 MKKS ABCC8 PPARG TRNF ALMS1 GUCA1B PDE6G CTNNB1 CCDC28B ND3 INSR LHX1 CDON APOE HNF4A CPA1 SLC29A3 DMXL2 TOPORS IDH3B NEUROG3 HFE SCAPER ND1 ARL2BP PDE6B BLK TRNE HNF1B HNF1B SAMHD1 PEX6 NEUROD1 NPAP1 COX3 GPR101 CNOT1 EIF2S3 PRPF3 IL2RA HLA-DRB1 ZIC2 NDUFS1 SPATA7 TRMT10A BLM CYP19A1 FUZ PRKAR1A CYTB PTRH2 LMNA TRNV FBN1 MLXIPL ZFP57 AIP KCNJ11 KCNJ11 KRAS FLT1 FXN PLIN1 INS WFS1 TWNK RPGR HNF4A DISP1 BLK PNPLA2 POLG MC4R POLG2 BAZ1B NSMCE2 RTEL1 TRNS2 PROKR2 ND1 PPARG NDP AHI1 SOX2 SAG SLC29A3 HERC2 UBR1 IER3IP1 KCTD1 ABCC8 CFTR CNBP CAVIN1 SLC12A3 MKRN3-AS1 FOXP3 SLC16A2 TWNK PROK2 PCNT EYS COX2 TRNF RGR GTF2I STAT1 PAX4 DHX38 IDH3A ZMPSTE24 PPP1R15B XRCC4 PTPN1 CLCNKB HJV ERGIC1 LEPR RHO SHH NPM1 ZBTB20 ATM NDUFA6 INS AIRE RP9 PTF1A TCF7L2 KLHL7 DNAJC21 AKT2 RLBP1 AKT2 TP53 PLCD1 NKX2-5 CDH23 NDUFS4 FOXC2 HNF1A LMNA LMNA MTNR1B HNF1A TRNW MKRN3 SRP54 GLI2 NDUFA1 IRS2 NDUFA11 TERC USH2A CTRC POC1A RP2 ITPR3 MOG PDX1 IFT172 APPL1 ARNT2 ATP6 ND5 SNORD116-1 CIDEC BBS1 NDUFAF1 PDE11A FAM161A RPE65 PDE4D PARN INS PRPH2 ROM1 TBL2 OTX2 POLD1 MAFA HNF4A KDSR CEP19 GCK SEMA4A ARL3 CEL LRAT HNF1A GATA6 TULP1 SNRNP200 IFT88 AGPAT2 TRNE FSCN2 TRNS1 NDUFB9 GATA3 STUB1 ENPP1 MERTK RNASEH2A KCNJ11 HLA-DQB1 NHP2 FXN IMPG2 SUFU POMGNT1 EIF2AK3 SARS2 HYMAI GCK TKT USB1 ZMPSTE24 PRPF31 HNF1B PDX1 SLC30A8 PNPLA2 SLC19A2 DKC1 PDE6A USP8 EFL1 FGFR1 CRB1 PEX1 NUBPL