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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


Diabetes mellitus
Genes 523
PDE6A IDH3A UBR1 IER3IP1 SPINK1 HNF1B PCARE ND1 OPA1 RP1 AGPAT2 TRNS1 MMP2 TTC8 PDX1 TGIF1 TREX1 CDON CFTR MKRN3 GCK INS PPARG HYMAI COX2 XRCC4 SNRNP200 NUBPL PTRH2 CEP19 NDUFB10 PROKR2 EYS LMNA TRNQ MAPK8IP1 LEPR TCF7L2 NSMCE2 PRPF4 ARL6 RDH12 ARL3 FGF8 GCK KDSR CEL DISP1 NR2E3 NDUFAF5 ARL2BP ERGIC1 PLAGL1 PRPF31 PNPLA6 NDUFV2 COX3 PRCD RLBP1 WFS1 KLF11 TRNL1 PDX1 NDUFA11 BLK KCNJ11 GPD2 SLC19A2 DHDDS MLXIPL LEP CLIP2 BMP2 BRCA2 TRNF IFT140 LMNA RP2 REEP6 NDUFS2 PDX1 PDE4D LIG4 RETN CNGA1 GLI2 NDP PNPLA2 EDA CYTB LHX1 PRSS1 NPM1 IFIH1 TBL2 ALMS1 GCK PRPH2 HAMP DCAF17 ABCC8 SNORD115-1 PRPF8 ENPP1 GUCA1B MEN1 MST1 NEUROD1 POMGNT1 HNF4A PTPN1 PPP1R3A FXN AIP KIAA1549 IGF2BP2 NKX2-5 EIF2S3 COX1 SLC29A3 ND5 SUFU CDKN2A HERC2 FXN CYP19A1 STAT3 MKKS SOX2 LIPC INSR GTF2I TDGF1 GCGR HMGA2 TWNK HFE TRNH HLA-DRB1 CORIN PRPF6 ZNF408 FGFR1 PROM1 FOS ZMPSTE24 PEX1 CPA1 HNF4A NPAP1 NDUFAF3 DLL1 BEST1 TRNK TRNL1 POLG CAV1 XRCC4 ND2 TUB CP SLC2A2 KRAS EFL1 NDUFS1 HNF1A SIX3 POLR3A RP9 TRNE AKT2 NODAL PPARG XRCC4 ND1 NDUFS4 GATA6 WRN DCAF17 TTC7A AKT2 RBP3 POC1A PAX4 RTEL1 NDUFA6 TRNS1 KCNJ11 INSR GJB3 INS CASR USP8 MAK FOXC2 FOXP3 HNF1B GATA3 IMPDH1 APOA5 LIPE TRNL1 LEMD3 IL6 PRKAR1A FGFR1 NDN COX1 FAM161A HESX1 INSR NRL NDUFS6 ABCC8 TRNC CFTR GJA1 PRKACA NDUFB9 TRNW COX3 TTPA GPR101 PLAGL1 TIMMDC1 GJA1 WRAP53 RNASEH2A HNF4A COX2 PAX4 FOXRED1 PAX4 DKC1 RRM2B SMAD4 BLK TMEM126B ND5 NDUFAF1 FLT1 KCNJ11 MAFA GATA6 IL2RA CLCNKB NDUFAF2 CTRC PPARG OFD1 IFT172 SPINK1 PRKAR1A RPGR ATM SNORD116-1 OTX2 NDUFA1 ZFYVE26 NDUFB3 BAZ1B PRSS2 BSCL2 ABCC8 INS WFS1 IFT88 PDE6B GAS1 ABCC8 ABCC8 RGR PALLD ND4 STOX1 GNAS NEK2 RFC2 CA4 HYMAI CTRC LIPE RHO MMP14 SCAPER NOP10 ITPR3 GCK SLC19A2 NHP2 HNF1B CRB1 PEX6 TWNK TRNQ NEUROD1 GTF2IRD1 ABCC8 ND6 DNAJC3 POLD1 GJB4 SPINK1 PARN BSCL2 VANGL1 SLC29A3 PDE11A PTPN22 PTF1A BRAF AHR PWRN1 HYMAI TRNV GLRX5 USB1 HLA-DQB1 ITCH SBDS TRNK GPR35 PRSS2 PROK2 STAT1 NSMCE2 CTNS PIK3R1 NDUFAF4 CDHR1 ZFP57 ATP6 TRNW PTF1A CTNNB1 AIP EIF2AK3 POLA1 GCK TRNE ELN NEUROG3 CISD2 GLIS3 DNAJC21 CAVIN1 ELMO2 PTCH1 ROM1 ZFP57 BBS2 LEPR LRP6 KCNJ11 PRKACA PRPF3 SLC25A4 DNM1L GCK HJV LRAT WFS1 HNF1B TP53 PNPLA2 ELN IRS2 NDUFV1 ND6 PRSS1 CERKL CLRN1 PPARG BBS2 MOG TOPORS ARNT2 FOXH1 RAC1 HNF4A PLIN1 TP53 TRNF NDUFB11 EIF2AK3 CFTR SNRPN USH2A KCNJ11 HNF1A STAT3 C8ORF37 APOE FUZ LMNB2 IGF1R TRNS2 LMNA IPW POLG2 PDX1 TERC SLC16A2 INS CAV1 NDUFS7 AR LMNA HGSNAT KLF11 SEMA4A FOXP3 CIDEC CTC1 PLIN1 IDH3B PCNT PEX10 GCK SPINK1 APPL1 HNF1A ZIC2 ABCA4 FBN1 ZNF513 TRNS2 CRX STUB1 NEUROD1 KLHL7 CISD2 PSTPIP1 ALMS1 LMNA PDX1 LIMK1 HNF1A RPE65 BRCA1 RNASEH2B CCDC28B STAT1 AHI1 AIRE ARMC5 NDUFS3 AGBL5 PDE4D TULP1 SHH DHX38 IL2RA HMGA1 CEL NDUFS8 ATM DNAJC3 INS MAGEL2 HNF1A EDA2R HFE MKRN3-AS1 SLC12A3 SLC30A8 UBR1 ND1 IMPG2 KCNJ11 PWAR1 CNOT1 ADAR BLM PDE8B PDX1 HNF4A IRS1 RNASEH2C INSR PIK3R1 CDH23 BBS1 TCF4 ZMPSTE24 ZBTB20 KIZ TINF2 KCTD1 WFS1 SRP54 APPL1 ND3 WFS1 PRSS1 SPATA7 AGPAT2 HBB MERTK WRN KCNJ11 PALB2 HNF1A LMNA PAX4 SARS2 SLC7A14 SOX3 MC4R PDE6G LMNA ARHGEF18 SAG AMACR MTNR1B CP CNBP PLCD1 CTRC FSCN2 TERT SAMHD1 CNGB1
Abnormal circulating lipid concentration
Genes 286
CYP11A1 PEX1 LDLR UBR1 APOB BAZ1B PEX7 PNLIP CCDC115 ABCG8 CYP27A1 BSCL2 HNF1A CIDEC AGPAT2 LMNA RAI1 POU2AF1 GHR IQSEC2 RFC2 HMBS LIPE PEX12 BSCL2 ACADM MYO5A APOB SLC25A13 STXBP2 MSMO1 TRMU UBE3B NSDHL CPT1A SLC37A4 DHCR7 CEP19 EMD LMNA ACAD8 SLC25A20 NADK2 TMEM199 NSMCE2 GTF2IRD1 RAI1 TDP1 NGLY1 ABCA1 PMM2 POLD1 OCRL EBP BSCL2 TFG TNFSF15 LCAT HSD3B7 PLA2G4A DYRK1B PCSK9 DHCR24 PYGL TRNK TRNL1 NPC2 ABCC8 CTNS NADK2 LBR ACOX2 PIGH SLC7A7 CYP7A1 TMEM43 JAG1 DEAF1 LEP CLIP2 LMNA PEX5 NPC1 ELN CAV3 FHL1 PRF1 PLVAP FLCN CAVIN1 CETP SMPD1 PNPLA2 PRSS1 LEPR LRP6 APTX LPL STX11 TBL2 ALMS1 LDLRAP1 APOA5 BSCL2 DCAF17 PNPLA2 ZMPSTE24 SLC22A5 PIK3R5 SPIB RSPO1 PHKG2 SLC52A1 ABCA1 CFH PEX26 SETX SLC37A4 EPHX2 LIPC PPARG PEX13 ACADL PEX12 IL12RB1 ABCA1 SLC29A3 ACADM LMNA ANGPTL3 MMEL1 LMNA PLIN1 MTTP SAR1B CAVIN1 PEX3 PEX2 CYP19A1 TNPO3 ABCG5 DGAT1 TTPA SMPD1 CFHR1 LDLRAP1 GTF2I ACADVL HMGCL APOE FECH SGPL1 LMNB2 GPD1 PSMB9 TDP1 LMNA PEX6 NUP107 APOA2 CAV1 NUP107 AR FOS ZMPSTE24 TBXAS1 LMNA UCP2 CIDEC MEF2A PLIN1 PEX5 PPP1R17 ABCD1 CAV1 XRCC4 PEX10 PEX5 ADCY3 HAVCR2 ABCG8 CPT1A CYP27A1 APOB APOC3 LIPA LMNA PEX2 POLR3A TRNE FBN1 PEX10 PPARG XRCC4 ACAD9 LIPA LCAT SYNE1 LCAT DCAF17 SC5D AKT2 G6PC NPHS1 ACADVL ALMS1 LMNA LTC4S CETP LIMK1 PEX11B RAI1 GK APOC3 CCT5 CFHR3 TRNE PCSK9 ALB APOA5 SLC25A13 DHCR7 PSMB8 PSMB4 CPT2 LIPE APOC2 LDLR KCNJ1 SAR1B AGL CAV1 ACAD8 PEX19 CFTR HNF4A COG4 XIAP GHR OCRL LPL SLC12A1 UNC13D CYP11A1 PEX14 HADH NPHS2 POLR3A TANGO2 PEX1 PEX16 IL12A ZMPSTE24 PEX7 PHKA2 RAB27A FLII ACTN4 PHKG2 PANK2 AGPAT2 PHYH GPIHBP1 ALB PEX19 KCNJ11 ABHD5 LMNA PHKA2 GYS2 ABCA1 GLA MC4R SYNE2 LMNA SLC25A13 IRF5 PLA2G7 CTRC APOA1 EBP PPARG SLC25A13 AGL SPINK1 DLD
Type II diabetes mellitus
Genes 182
SNRPN USH2A PDE6A IDH3A LIPC SNORD116-1 GTF2I GCGR C8ORF37 BAZ1B PCARE TRNH RP1 PRPF6 LMNA IPW IFT88 PDE6B ZNF408 ABCC8 RGR TTC8 PROM1 PDX1 AR ND4 NPAP1 HGSNAT NEK2 RFC2 CA4 KLF11 SEMA4A BEST1 TRNL1 RHO IDH3B MKRN3 SCAPER PPARG PCNT PEX10 TUB XRCC4 SNRNP200 SLC2A2 CEP19 CRB1 ABCA4 EYS MAPK8IP1 TRNQ TCF7L2 POLR3A RP9 GTF2IRD1 TRNE FBN1 PRPF4 AKT2 ZNF513 ARL6 TRNS2 RDH12 CRX STUB1 ARL3 NEUROD1 KLHL7 RBP3 SPINK1 NR2E3 ALMS1 TRNS1 KCNJ11 LIMK1 INSR HNF1A ARL2BP BRAF RPE65 AHR PWRN1 GLRX5 PRPF31 MAK PNPLA6 PRCD RLBP1 HNF1B AHI1 IMPDH1 TRNK AGBL5 TRNL1 TULP1 DHX38 GPD2 HMGA1 ATM NDN COX1 FAM161A NRL DHDDS CDHR1 MAGEL2 MKRN3-AS1 CLIP2 CTNNB1 AIP TRNF SLC12A3 IFT140 SLC30A8 RP2 POLA1 ND1 REEP6 IMPG2 ELN PWAR1 LIG4 RETN BLM PDX1 CNGA1 TRNW COX3 IRS1 INSR ROM1 BBS2 PRPF3 GCK KIZ TBL2 COX2 WFS1 GCK PRPH2 LRAT ABCC8 SNORD115-1 PRPF8 SPATA7 ENPP1 GUCA1B MEN1 IRS2 MERTK POMGNT1 HNF4A WRN ND6 HNF1A PTPN1 PPP1R3A CERKL CLRN1 PAX4 SLC7A14 KIAA1549 MC4R IGF2BP2 PDE6G ARHGEF18 SAG MOG AMACR TOPORS MTNR1B CLCNKB ND5 PLCD1 OFD1 FSCN2 IFT172 HERC2 CYP19A1 RPGR CNGB1