NLP SNP

SNPMiner Trials by Shray Alag

A54T

SNPMiner Trials (Home Page)

Report for Mutation A54T

Developed by Shray Alag, 2020.

SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials

1 FABP2 Ala54Thr Genotype Influences the Postprandial Serum Fatty Acids Profile in Type 2 Diabetic Patients

This study will be conducted in type 2 diabetic patient's to evaluate the if there is a different response of serum lipids after a standard meal (rich in saturated fatty acids) in patients who have the presence of a genetic alteration. This alteration that will be evaluated is a polymorphism, change of an amino acid in the gene of FABP2. This gene that can influence the absorption of lipids in the intestine and subjects who have the altered genotype (presence of T allele) can have an abnormal lipid profile as compared to subjects without this genotype.

NCT00634673 Dyslipidemia Type 2 Diabetes Mellitus Other: sandwich

MeSH:Diabetes Mellitus Diabetes Mellitus, Type 2 Dyslipidemias

HPO:Abnormal circulating lipid concentration Diabetes mellitus Type II diabetes mellitus

FABP2 Ala54Thr Genotype Influences the Postprandial Serum Fatty Acids Profile in Type 2 Diabetic Patients. --- Ala54Thr ---

Inclusion Criteria: - Type 2 diabetes - homozygote to FABP2 polymorphism:TT or AA Exclusion Criteria: - age >75 years - glomerular filtration rate <30ml min-1 - with unstable angina or possible infarct or stroke in the last year Inclusion Criteria: - Type 2 diabetes - homozygote to FABP2 polymorphism:TT or AA Exclusion Criteria: - age >75 years - glomerular filtration rate <30ml min-1 - with unstable angina or possible infarct or stroke in the last year Dyslipidemia Type 2 Diabetes Mellitus Diabetes Mellitus Diabetes Mellitus, Type 2 Dyslipidemias Background: The presence of Ala54Thr polymorphism of intestinal fatty acid-binding protein 2 gene (FABP2) might influence the intestinal absorption of dietary fatty acids (FAs) and has been associated with diabetic nephropathy. --- Ala54Thr ---

Conclusion: The presence of the T allele of Ala54Thr polymorphism of FABP2 gene in type 2 diabetic patients increases absorption of dietary FAs, including the trans-unsaturated FAs, and this might turns these patients more susceptible to the effect of diet composition. --- Ala54Thr ---

Primary Outcomes

Measure: postprandial serum fatty acids

Time: 0, 2, 4,6, and 8 hours after meal

Secondary Outcomes

Measure: serum endothelin serum fibrinogen

Time: 0 and 8 hours after meal

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

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:0003119: Abnormal circulating lipid concentration

Genes 290

DCAF17 APOA2 PEX5 LMNA POLR3A PNPLA2 PRF1 PHYH APOB PMM2 TNFSF15 TDP1 SMPD1 PEX1 CPT2 PEX6 PIGT LMNA BSCL2 SPINK1 CYP19A1 XRCC4 ABCC8 HSD3B7 ABCG8 ACADVL LDLR AGPAT2 ADCY3 TTPA CETP LIMK1 OCRL TBL2 PEX2 BSCL2 UCP2 GK SLC29A3 SLC37A4 NADK2 ZMPSTE24 MCFD2 LTC4S CETP PEX10 MYO5A TRNL1 PSMB8 LMNA GPIHBP1 LMNB2 DGAT1 SLC12A1 TFG SC5D PEX19 PEX10 LCAT ACAD9 ACAD8 AR LMNA PEX2 MEF2A CTRC PEX7 RAI1 PIK3R5 CEP19 EBP PYGL ACADL BSCL2 POU2AF1 LIPE CFH APOB CLIP2 ACADM PEX5 FHL1 AEBP1 CAVIN1 ANGPTL3 PSMB9 HMGCL DHCR24 FOS FECH TMEM199 GHR PLVAP CYP11A1 LMNA DHCR7 XRCC4 SMPD1 SGPL1 EBP CCT5 PIGH MC4R APOA5 IL12RB1 IRF5 CAV1 STX11 DHCR7 ACAD8 IL12A TRNK AGL POLD1 SLC25A20 PPP1R17 ALMS1 ABHD5 UBE3B LRP6 APOA5 PRSS1 ABCA1 DYRK1B CCDC115 NGLY1 SYNE1 RAI1 LIPA APOA1 ALB FLII PEX7 LDLRAP1 SYNE2 TNPO3 LEPR MSMO1 TMEM43 LCAT FBN1 LDLR GLA SAR1B OCRL ABCG8 KCNJ11 TRMU ABCA1 LEP CAV1 NPC2 HAVCR2 BSCL2 LMNA COG4 ABCD1 IQSEC2 SLC25A13 LMNA GHR LPL UBR1 PEX13 PHKG2 SAR1B PEX11B APTX SLC25A13 CIDEC TBCK ALMS1 XIAP PPARG KCNJ1 PNPLA2 NPHS1 DLD AGL AKT2 GTF2I PEX1 ABCA1 POLR3A NPC1 CTNS SLC37A4 LIPC LMNA SLC25A13 JAG1 ZMPSTE24 LIPA PSMB4 MTTP PHKA2 NUP107 SLC7A7 LIPE ACTN4 CFHR1 APOE ABCA1 PEX14 TRNE APOC3 ACADVL EMD LPL APOC2 NUP107 HMBS CAV1 LDLRAP1 RAI1 LMNA ELN LMAN1 PEX26 ALB PEX19 RAB27A CYP27A1 CFHR3 LMNA TANGO2 ACOX2 FLCN CAVIN1 EPHX2 PPARG CYP7A1 PLIN1 BAZ1B SLC52A1 DEAF1 PEX5 GYS2 SLC22A5 HADH CPT1A NSDHL G6PC PCSK9 ZMPSTE24 PPARG APOC3 HNF1A TRNE NSMCE2 GPD1 CAV3 PANK2 RFC2 HNF4A UNC13D SLC25A13 MMEL1 NPHS2 PEX12 PEX16 PHKA2 PHKG2 TDP1 RSPO1 LMNA PLA2G4A ACADM PCSK9 DCAF17 APOB STXBP2 CIDEC PLA2G7 LBR SPIB NADK2 TANGO2 CYP11A1 PLIN1 PNLIP LCAT CPT1A ABCG5 PEX3 GTF2IRD1 PEX12 AGPAT2 CYP27A1 SETX

Protein Mutations 5

A1298C A54T C677T E167K I148M

SNP 1

HP:0005978: Type II diabetes mellitus

Genes 184

MKRN3 TRNF BLM BRAF KCNJ11 MKRN3-AS1 ZNF513 FBN1 AKT2 HGSNAT MOG RP1 RDH12 GUCA1B INSR NDN GCK HNF1A LMNA IDH3A ZNF408 SNORD115-1 MAK IFT172 BEST1 CYP19A1 POMGNT1 FSCN2 PWRN1 TRNL1 SLC12A3 ENPP1 CRX GLRX5 AMACR CDHR1 PRPF31 BBS2 CRB1 PTPN1 LIMK1 TBL2 IRS2 HNF1B RP9 PNPLA6 ABCC8 SLC30A8 DMXL2 GTF2I ARL2BP IMPG2 TRNW TRNL1 COX3 ROM1 C8ORF37 PDE6B POLR3A MTNR1B LRAT RBP3 KIZ KLF11 PRPF8 PRPH2 PDE6G TOPORS PEX10 CLRN1 TRNH RPGR COX1 IRS1 ABCC8 HERC2 NRL PDE6A PRPF4 ND1 TUB RHO FAM161A AR RGR HNF1A ND5 ND4 CLCNKB PROM1 COX2 SEMA4A ARL6 MEN1 TRNS2 GCK GPD2 CEP19 SAG ABCA4 MAGEL2 ELN TTC8 TULP1 SNRPN USH2A PRPF6 PWAR1 RPE65 REEP6 CLIP2 IGF2BP2 CNGA1 INSR MERTK AHI1 SPATA7 NPAP1 NR2E3 BAZ1B SNRNP200 PPP1R3A ARHGEF18 DHX38 HNF4A KIAA1549 POLA1 PLCD1 AHR IDH3B PDX1 KLHL7 TRNQ PRPF3 SLC7A14 CNGB1 AIP PDX1 RP2 GCGR WRN RLBP1 MAPK8IP1 MC4R TRNE TCF7L2 SNORD116-1 AGBL5 SLC2A2 IPW RFC2 PAX4 WFS1 CA4 LIG4 TRNK HMGA1 XRCC4 TRNS1 IMPDH1 RETN PPARG IFT140 NEUROD1 ALMS1 SPINK1 PCNT ND6 CAT EYS CTNNB1 NEK2 CERKL LIPC SCAPER PRCD ATM STUB1 PCARE ARL3 IFT88 GTF2IRD1 DHDDS OFD1

Protein Mutations 12

A54T E158K E23K G174S G212A G401S G465R I349V K121Q P12A R230C R61C

SNP 7

rs13266634 rs2266782 rs35652124 rs780094 rs780094s rs78408340 rs7903146