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Report for SNP rs731236

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Vitamin D Receptor and Megalin Gene Polymorphisms and Their Association With Obesity, Central Obesity and the Metabolic Syndrome

The link between metabolic disturbances and vitamin D receptor (VDR) and MEGALIN (or LRP2) gene polymorphisms remains unclear, particularly among African-American adults. The associations of single nucleotide polymorphisms (SNPs) for VDR [rs1544410(BsmI:G/A), rs7975232(ApaI:A/C), rs731236(TaqI:G/A)] and MEGALIN [rs3755166:G/A,rs2075252:C/T, rs2228171:C/T] genes with incident and prevalent metabolic disturbances, including obesity, central obesity and metabolic syndrome (MetS) were evaluated. From 1,024 African-Americans participating in the Healthy Aging in Neighborhoods of Diversity across the Life Span (HANDLS, Baltimore, MD, 2004-2013) study, 539 subjects were selected who had complete genetic data as well as covariates selected for metabolic outcomes at two consecutive examinations (visits 1 and 2) with a mean follow-up time of 4.64±0.93y. Haplotype (HAP) analyses generated polymorphism groups that were linked to incident and prevalent metabolic disturbances.

NCT03279432 Metabolic Syndrome Obesity Central Obesity
MeSH:Obesity Metabolic Syndrome Obesity, Abdominal Syndrome
HPO:Abdominal obesity Obesity Truncal obesity

The associations of single nucleotide polymorphisms (SNPs) for VDR [rs1544410(BsmI:G/A), rs7975232(ApaI:A/C), rs731236(TaqI:G/A)] and MEGALIN [rs3755166:G/A,rs2075252:C/T, rs2228171:C/T] genes with incident and prevalent metabolic disturbances, including obesity, central obesity and metabolic syndrome (MetS) were evaluated.

Primary Outcomes

Description: Obesity was defined as BMI≥30 kg/m2.

Measure: Obesity

Time: 2004-2013

Description: Central obesity was defined based on waist circumference (WC) ≥ 102 cm or 40 inches (men), ≥ 88 cm or 35 inches (women)

Measure: Central Obesity

Time: 2004-2013

Description: Participants who screened positive on at least 3 of 5 conditions ((1) central obesity (see above); (2) dyslipidemia: TAG≥1.695 mmol/L (150 mg/dl); (3) dyslipidemia: HDL-C<40 mg/dL (male), <50 mg/dL (female); (4) blood pressure≥130/85 mmHg; (5) fasting plasma glucose≥6.1 mmol/L (110 mg/dl).(39)) were classified as MetS-positive (2) Similarly, continuous annual rates of change (Δ) in metabolic outcomes were considered, specifically number of metabolic disturbances (MetD), BMI, WC, SBP, DBP, TAG, HDL-C, and Glucose. Binary incident outcomes included obesity, central obesity, MetS and other metabolic disturbance (i.e. hypertension, dyslipidemia-TAG, dyslipidemia-HDL and hyperglycemia).

Measure: Metabolic Syndrome

Time: 2004-2013


HPO Nodes


HP:0001513: Obesity
Genes 477
SHOX HACE1 THOC2 LIMK1 FMR1 SOX3 PHF6 CLCN4 IFT172 TNFSF4 PDX1 KCNAB2 AGRP GNAS ADCY3 HLA-DRB1 AFF4 REEP6 PRPF6 KLF11 KIAA1549 ARL6 ELN MKS1 PWAR1 IFT27 SDC3 LIPE SYNE2 RAB39B FGF8 ARHGEF6 RDH12 ZNF408 BRAF SH2B1 BPTF HLA-DQB1 ANOS1 LMNA TRIM32 ARX AKT1 KIF7 TRIP12 SLC7A7 IL1RAPL1 SHANK3 INS EGF RAI1 SYNE1 GNAS ATP6AP2 XRCC4 SLC7A14 GNAS HDAC8 BBS2 HSD11B1 MC4R AGBL5 KMT2D ACADVL BBS4 MEGF8 CYP7A1 RAD21 ARVCF BEST1 RPS6KA3 ZNF365 ADRB3 CRX MID2 ATRX NDN UCP3 IQSEC2 SKI RBP3 CNGB1 RAB23 ZNF513 SLC25A4 FLRT3 KISS1R CCDC141 IFT140 TSPAN7 CCDC141 ARMC5 TRAF3IP1 LZTFL1 SUFU OFD1 MAGEL2 SMC1A AKT2 GNAS ARL6 GTF2IRD1 UFD1 TRIM32 CDHR1 NF2 MEGF8 SNORD115-1 WT1 HACE1 SH2B1 CNGA1 DHDDS RFC2 PSMD12 SMO KIZ NTRK2 BBS10 DCC PRPF8 EP300 SOX10 POU3F4 BAP1 TMEM43 NEK2 DEAF1 GNAS-AS1 BBS9 SIN3A SNRPN MAK FGFR1 PHF6 CLIP2 BBS2 COMT BBS2 HESX1 HESX1 GNAS JMJD1C TCF20 MCM3AP NEUROD1 LZTFL1 ARL6 ABCA4 C8ORF37 GHR TMEM67 USP8 HIRA LEP IQSEC2 CERKL NRL PAX6 TBX1 SRY H6PD CREBBP PRKAR1A PROM1 ZNF41 PCSK1 PCSK1 EHMT1 IMPDH1 CNNM2 RNPC3 C8ORF37 ZNF711 LEPR TTC8 ALMS1 PRCD PROKR2 ELN PNPLA6 PAX4 MKKS GATA4 SYP VPS13B FGF17 PRPF4 HNF1A CA4 GDI1 TUB POMC AIP TTC8 ENPP1 KIDINS220 SLC9A7 CEP164 NSD1 NR2E3 TBX1 HNF4A PWRN1 MC3R KIDINS220 KMT2A BDNF MTTP PCARE ARL6 POMC P2RY11 IQSEC2 BBS10 RAB23 KCNJ18 PDE4D BBS9 HDAC4 TUB XYLT1 SEC24C PDSS1 HGSNAT EIF2S3 IGF1R MAGEL2 IPW FTO GCK SPRY4 PRMT7 ARHGEF18 DYRK1B XYLT1 RP1 GNAS CLRN1 AHR MED12 HDAC8 CTSH TTC8 PNKP IFT172 FGFR1 SIM1 MKKS FTSJ1 MAPK8IP3 ALB IFT74 ALMS1 GUCA1B UPF3B ATRX PDE6G CTNNB1 CCDC28B SETD2 SLC10A7 APOE NIPBL BBS7 RAI1 HCFC1 PRDM16 TOPORS WDR11 BBS5 IDH3B PIK3CA SCAPER ARL2BP SPG11 CXORF56 ADRB2 HS6ST1 RREB1 LAS1L PDE6B BLK IL17RD ADNP TBX3 NPAP1 P4HTM EIF2S3 PRPF3 CARTPT SMC3 POMC SPATA7 SH3KBP1 MECP2 CYP19A1 BBS12 MKS1 NKAP HDAC8 RERE PRKAR1A TAF1 UBE3A MLXIPL KCNJ11 INPP5E HCRT IGF1 RPGR APC2 CNKSR2 BLK PRMT7 MC4R PPARG RPS6KA3 HUWE1 BAZ1B PDGFB PROKR2 NIN AHI1 RBMX SOX2 SAG MECP2 TRAF7 WDPCP HERC2 ABCC8 GP1BB TRAPPC9 BBS12 CEP290 ADNP MKRN3-AS1 PTCHD1 ACSL4 CUL4B BAP1 NR0B2 PROK2 TERT PCNT PCNT EYS WT1 FGFR3 IFT27 RGR GTF2I ZNF711 SDCCAG8 EMD LAS1L CACNA1S GNAS DHX38 IDH3A USP27X DYNC2I2 PIGT PDE4D TACR3 LEPR RHO POGZ MRAP2 EXOC6B BBS5 ZBTB20 FOXP1 RP9 BBS7 SH2B1 KLHL7 EHMT1 DNMT3A ARMC5 RLBP1 ALG13 AGTR2 MYT1L VPS13B CDH23 PAX6 PAK3 SMARCB1 LEP BBS4 ARL13B DUSP6 MKRN3 TRAPPC9 AFF4 SDCCAG8 TBX1 GHRL BBS1 STX16 BBIP1 USH2A MOG LMNA PROK2 OFD1 SIM1 FLII RP2 SETD5 MOG FRMPD4 DPYD IFT172 APPL1 ARNT2 SNORD116-1 NSMF BBS1 DLG3 FAM161A RPE65 PDE4D PRPH2 ROM1 TBL2 OTX2 FHL1 ERMARD C8ORF37 NPHP1 CEP19 DMD SEMA4A ARL3 PHIP CEL MAN1B1 LRAT CANT1 GABRD TULP1 SNRNP200 IFT88 MTFMT AKT2 FSCN2 CEP290 MERTK SEMA3A BBIP1 PDE11A CHD7 IMPG2 POMGNT1 SMARCE1 SMAD4 IFT172 MAN1B1 CUL4B USP9X PRPF31 PTEN KDM6A IGFALS WNT4 SETD2 GNAS TBX3 PDE6A FEZF1 USP8 CRB1 ZNF81 GABRA3
Protein Mutations 3
G20210A P12A W64R