SNPMiner Trials by Shray Alag

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Report for SNP rs78408340

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials

1 Defining the Physiological Mechanisms of Risk Genes for Hyperglycaemia, Insulin Resistance and Type 2 Diabetes

Recent genetic association studies have identified variants in the Peptidyl-Glycine alpha-amidating mono-oxygenase (PAM) gene that increase the risk of diabetes likely through a defect in beta-cell function. This has been followed up and supported by novel kinetic assays and cellular studies. This investigation will recall heterozygous carriers of the risk allele at rs78408340 and age, BMI and gender matched controls from the Oxford Biobank. The study will compare the incretin effect, glucagon-like peptide-1(GLP-1), insulin, glucose levels and PAM protein activity in individuals both with and without the risk variant. The aim of the study is to gain mechanistic insight into the effect of the variant on human physiology and diabetes pathogenesis.

NCT02723110 Type 2 Diabetes Other: 4 Hour Frequently Sampled Oral Glucose Tolerance Test Other: Isoglycaemic Clamp
MeSH:Diabetes Mellitus Diabetes Mellitus, Type 2 Insulin Resistance Hyperglycemia
HPO:Diabetes mellitus Hyperglycemia Insulin resistance Postprandial hyperglycemia Type II diabetes mellitus

This investigation will recall heterozygous carriers of the risk allele at rs78408340 and age, BMI and gender matched controls from the Oxford Biobank.

Primary Outcomes

Description: Will be calculated from the amount of IV glucose required to reproduce OGTT glycaemic profile

Measure: Calculated Incretin Effect

Time: 3 months

Secondary Outcomes

Measure: Insulin concentration

Time: 3 months

Measure: Glucose concentrations

Time: 3 months

Measure: GLP-1 (glucagon-like peptide-1) amidated and unamidated concentration

Time: 3 months

Description: This assay is based off the protocol in the published literature, and is based on the turnover of radio-labelled substrate to quantify the amidating ability of the PAM enzyme

Measure: PAM enzyme activity assay

Time: 3 months

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
Protein Mutations 12
A54T C1858T C282T C282Y E158K E23K H63D I191V K1270A K3048A P12A S9C
SNP 16
rs10830963 rs13266634 rs2266782 rs2281135 rs2294918 rs35874116 rs35874116rs rs5215 rs5219 rs738409 rs780094 rs780094s rs78408340 rs7903146 rs9701796 rs9939609
HP:0011998: Postprandial hyperglycemia
Genes 13
INSR SCN4A KCNJ18 SHPK INSR INSR GYS2 GYS2 KCNE3 INSR CACNA1S GABRA3 CACNA1S
Protein Mutations 0
SNP 5
rs12255372 rs780094 rs780094s rs78408340 rs7903146
HP:0000855: Insulin resistance
Genes 124
IGF2BP2 PLIN1 CAV1 ABCC8 PDX1 BSCL2 SLC2A2 INSR PDX1 ABCC8 HYMAI ADCY3 EIF2AK3 KLF11 PAX4 ABCC8 ZMPSTE24 ABCC8 PPARG XRCC4 ALMS1 PTPN1 KCNJ11 LMNA CLCNKB WFS1 LMNA INSR HMGA1 GCK KCNJ11 LIPE STAT3 ZFP57 PPP1R3A PAX4 CAV1 HSD3B2 INSR TCF7L2 HNF1A LMNA DBH NEUROD1 AKT2 AKT2 DMPK LEP BLK LMNA LMNA MTNR1B LIPE PTF1A LMNA PIK3R1 NEUROD1 IRS2 INS CYP19A1 XRCC4 APPL1 BSCL2 LEPR ALMS1 CIDEC PAX4 LMNA HSD11B1 INSR ZFP57 WRN KCNJ11 GATA6 KCNJ11 POLD1 PLAGL1 LMNB2 PLAGL1 PDX1 HNF1A INS LMNA IGF1 CEP19 CAV1 CEL PIK3R1 HNF4A AGPAT2 RETN ENPP1 KCNJ11 LIPC NSMCE2 CAVIN1 GPD2 MFN2 PPARG BSCL2 FOS ZMPSTE24 EIF2AK3 HYMAI IRS1 HNF4A HYMAI GCK PPARG ZMPSTE24 DCAF17 HNF1B GCK AGPAT2 PDX1 IGFALS ABCC8 SLC30A8 PMM2 NSMCE2 MAPK8IP1 PPARG CAVIN1 SLC12A3
Protein Mutations 11
A227G A277G C282Y E167K E298D G20210A G212A G276T H63D I148M P12A
SNP 8
rs10830963 rs11548193 rs1801282 rs3211938 rs45500792 rs78408340 rs926198 rs9939609
HP:0005978: Type II diabetes mellitus
Genes 182
MKRN3-AS1 IGF2BP2 ABCC8 CNGA1 LIMK1 DHDDS RFC2 SLC2A2 AMACR PCNT EYS PDX1 KIZ MEN1 SPINK1 REEP6 RGR PRPF6 GTF2I XRCC4 KIAA1549 PRPF8 DHX38 LIG4 IDH3A ABCC8 ELN TRNF PTPN1 GUCA1B NEK2 PDE6G CTNNB1 CLCNKB SNRPN WFS1 PWAR1 MAK HMGA1 CLIP2 RHO BBS2 KCNJ11 ATM RP9 PPP1R3A DMXL2 PAX4 TOPORS TCF7L2 KLHL7 HNF1A IDH3B RDH12 ZNF408 SCAPER ABCA4 RLBP1 C8ORF37 BRAF AKT2 ND1 ND4 ARL2BP PLCD1 PDE6B GCK CERKL NRL COX1 TRNE HNF1A MTNR1B AIP TRNW NPAP1 MKRN3 TRNQ ND5 LMNA TRNK PROM1 NEUROD1 IRS2 PRPF3 USH2A RP2 SPATA7 MOG ND6 IMPDH1 BLM CYP19A1 IFT172 SLC7A14 ALMS1 PRCD SNORD116-1 CAT TRNL1 PNPLA6 FAM161A RPE65 FBN1 AGBL5 WRN PRPH2 ROM1 TBL2 COX3 PRPF4 PDX1 CA4 TUB CEP19 RPGR TTC8 SEMA4A POLR3A ARL3 BEST1 LRAT NR2E3 CRX TULP1 SNRNP200 IFT88 POLA1 PWRN1 NDN PCARE AR INSR FSCN2 RETN COX2 STUB1 MC4R ENPP1 MERTK RBP3 CNGB1 LIPC ZNF513 BAZ1B TRNS2 GPD2 PPARG AHI1 HGSNAT IMPG2 IFT140 POMGNT1 KLF11 IRS1 HNF4A IPW GCK SAG PRPF31 HNF1B HERC2 PEX10 GLRX5 OFD1 SLC30A8 ARHGEF18 TRNS1 MAGEL2 RP1 MAPK8IP1 ARL6 GTF2IRD1 TRNL1 CLRN1 AHR SLC12A3 TRNH PDE6A CDHR1 SNORD115-1 CRB1
Protein Mutations 12
A54T E158K E23K G174S G212A G401S G465R I349V K121Q P12A R230C R61C
SNP 9
rs10401969 rs13266634 rs2266782 rs2854275 rs35652124 rs780094 rs780094s rs78408340 rs7903146