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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 469
MID2 LMNA PDE11A BBS10 HGSNAT ABCC8 GABRA3 RP1 ADRB2 AKT2 CXORF56 OFD1 APPL1 TRIP12 LAS1L CCDC141 CARTPT CHD7 MAK TACR3 FEZF1 IFT172 BEST1 XRCC4 FSCN2 GABRD PWRN1 ADCY3 CRX SETD5 BBS2 CRB1 FGF17 IGF1R HESX1 MTTP SLC25A4 CCDC141 SOX10 RP9 HCFC1 CTSH PDE4D LMNA USP9X CUL4B HDAC8 GNAS PDE4D SUFU TSPAN7 TBX1 PRPF4 TUB TUB RHO KISS1R MAPK8IP3 KMT2A PRMT7 SETD2 INS AIP VPS13B DNMT3A RAP1B SAG TRAPPC9 SIM1 MED12 SDCCAG8 CEP164 USH2A UFD1 PNKP PRPF6 LIPE PHIP IL1RAPL1 CNGA1 IFT74 FHL1 MERTK PHF6 PROK2 PDSS1 ARHGEF18 SH2B1 IDH3B FGFR3 PRPF3 SLC7A14 PAX4 JMJD1C DPYD MAN1B1 NR0B2 WT1 SNORD116-1 FMR1 IPW KCNJ18 NSD1 ATP6AP2 ACSL4 P2RY11 MC3R ALMS1 RAB23 PROK2 FGFR1 PCNT NTRK2 CTNNB1 STX16 DYRK1B HDAC8 SCAPER PRCD SEC24C PROKR2 SYNE1 SMC1A PCARE AKT2 TNFSF4 FGF8 DHDDS ALB ADRB3 SYNE2 MYT1L LEPR BBS12 ZNF513 NIN ADNP LEP ARMC5 IQSEC2 PPARG GUCA1B POMC BBIP1 THOC2 UPF3B PAK3 HACE1 SNORD115-1 BBS1 MOG SYP COMT GNAS-AS1 MKKS GNAS WNT4 SDCCAG8 ROM1 C8ORF37 PDE6B ZNF41 GHRL IFT172 GATA4 PDE6G ELN RAB23 AGTR2 TBX1 HS6ST1 RGR FGFR1 ACADVL EMD PTEN PROM1 PSMD12 SEMA4A ARL6 MEGF8 RAI1 ABCA4 MAGEL2 DMD ELN TULP1 DCC PAX6 UCP3 CUL4B REEP6 ZNF711 RREB1 SRY PDGFB DHX38 DEAF1 HDAC8 NPHP1 RP2 RLBP1 RNPC3 C8ORF37 GP1BB AGRP SETD2 RFC2 PHF6 MC4R FRMPD4 IGF1 USP8 EP300 HLA-DQB1 ARL3 IFT88 CEL ZNF81 OFD1 MKRN3-AS1 LAS1L BBS7 BBS2 RDH12 PRDM16 MKS1 HACE1 SMC3 IDH3A PIGT SHOX BBS9 IFT172 ARHGEF6 SKI CEP290 PRMT7 PDE4D CYP19A1 POMGNT1 KCNAB2 SIN3A H6PD KDM6A IFT27 LIMK1 TBL2 LZTFL1 BLK PNPLA6 USP8 ARL6 ARL2BP HLA-DRB1 IMPG2 XYLT1 BDNF ZBTB20 RBP3 POMC KIZ SH3KBP1 ARMC5 PRPF8 TOPORS BBS4 RERE AFF4 RPGR SLC9A7 SOX2 ALG13 HERC2 MRAP2 GNAS HUWE1 EIF2S3 TRAPPC9 POU3F4 FAM161A LEPR ARNT2 HIRA BBS9 GNAS DUSP6 MCM3AP RAI1 AFF4 MECP2 FOXP1 IQSEC2 BBS10 CEP19 SH2B1 SHANK3 RAD21 GDI1 BBS1 SMARCB1 SIM1 TRIM32 RAP1A WDR11 CLIP2 WT1 SPRY4 CACNA1S NIPBL NR2E3 MKKS KIF7 KIAA1549 GHR ANOS1 KLHL7 CNKSR2 CNGB1 HCRT GCK MC4R CEP290 EHMT1 AGBL5 TAF1 ZNF365 PROKR2 CA4 HNF1A BBS12 CLCN4 POMC MTFMT EYS NEK2 TMEM67 PCSK1 RPS6KA3 MAGEL2 CERKL GNAS EHMT1 ADNP MKS1 SDC3 FLII TTC8 MKRN3 BRAF NSMF TMEM43 MOG ENPP1 DLG3 CCDC28B BBS7 SLC10A7 SLC7A7 EXOC6B RBMX CDH23 IFT27 NDN SMAD4 IQSEC2 TRIM32 ZNF408 HESX1 TCF20 ATRX CANT1 GNAS EGF ALMS1 ARL6 GNAS FLRT3 BBS2 CDHR1 PRPF31 BBIP1 PRKAR1A IGFALS SEMA3A PAX6 PCNT ARVCF GTF2I FTSJ1 LRAT P4HTM PRKAR1A FTO ARL13B KCNJ11 PRPH2 APC2 IFT172 CLRN1 KMT2D LZTFL1 NRL PDE6A APOE TBX1 BBS4 INPP5E PCSK1 KIDINS220 PTCHD1 MLXIPL USP27X HDAC4 TBX3 MEGF8 TTC8 SNRPN TRAF3IP1 PWAR1 RPE65 ATRX PDX1 TBX3 TTC8 IL17RD POGZ ARX AHI1 MAN1B1 BLK CYP7A1 SPATA7 NPAP1 BBS5 EIF2S3 BAZ1B SNRNP200 AHR NEUROD1 WDPCP XYLT1 VPS13B BBS5 ZNF711 GNAS OTX2 ERMARD KIDINS220 SOX3 HNF4A IMPDH1 IFT140 KLF11 RAB39B BPTF HSD11B1 SPG11 RPS6KA3 NF2 MECP2 LEP WDR34 UBE3A CNNM2 C8ORF37 GTF2IRD1 CREBBP SH2B1
Protein Mutations 3
G20210A P12A W64R