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. Author manuscript; available in PMC: 2014 Apr 1.
Published in final edited form as: Obesity (Silver Spring). 2013 May 29;21(10):2099–2111. doi: 10.1002/oby.20324

Table 3. MetS SNP association with phenotypes and their gene annotation at 17p12 QTL.

SNPs within 1 LOD reduction from the linkage peak were tested against the 42 phenotypes. For phenotypic abbreviations, see Table 1. SNPs were mapped to genes and the known functions of these genes summarized, based on data from the NCBI build 36 human genome assembly. Annotations were determined at the position and within 250kb up- and downstream of the associated SNP. Data shown in column “−Log10(p)” are levels of the highest association. The QTL-specific significance threshold based on the effective number of SNPs was ρα=0.05=3.63×10−5, −log(p-value)=4.361. Prioritized biologically relevant genes are shaded in gray and SNP associations that exceed statistical QTL-specific significance threshold are bolded. MAF, minor allele frequency.

Variant Minor
Allele
MAF −Log10(p) Associated
phenotype
Nearest gene Location Annotation
Body composition and insulin responsiveness rs9889434 T 0.46 2.56 Weight MYOCD intergenic Cardiogenesis
rs12943502 C 0.49 3.15 Height NM_001001684 intergenic unknown function
rs2052003 T 0.33 2.77 BMI MYOCD intronic Cardiogenesis
rs2052003 T 0.33 2.99 WC MYOCD intronic Cardiogenesis
rs4792371 G 0.46 3.35 HC HS3ST3A1 intronic heparan sulfate
rs7219760 T 0.09 2.96 WHR NM_001001684 intergenic unknown function
rs9893022 A 0.03 2.75 Fatkg HS3ST3A1 intergenic heparan sulfate
rs2190699 G 0.34 2.95 Fatpct RICH2 intronic GTPase activator
rs3944086 C 0.11 2.80 Leankg HS3ST3A1 intergenic heparan sulfate
rs9907078 C 0.33 3.02 Leanpct CDRT15 upstream unknown function
rs12949155 G 0.43 3.47 SubQF NM_001001684 intergenic unknown function
rs4343329 C 0.26 6.54 VF TNFRSF13B intronic pro-inflammation
rs7225344 C 0.26 5.68 VF TNFRSF13B intronic pro-inflammation
rs4985700 C 0.40 5.13 VF TNFRSF13B intronic pro-inflammation
rs7226097 C 0.41 4.22 VF TNFRSF13B intronic pro-inflammation
rs11651352 A 0.23 4.17 VF TNFRSF13B downstream pro-inflammation
rs4343329 C 0.26 5.23 TAF TNFRSF13B intronic pro-inflammation
rs8081054 A 0.33 4.74 TAF NM_001001684 intergenic unknown function
rs7225344 C 0.26 4.51 TAF TNFRSF13B intronic pro-inflammation
rs8079010 A 0.34 3.98 RQ TRPV2 intronic stress response
rs4985700 C 0.40 4.01 REE TNFRSF13B intronic pro-inflammation
rs9303119 G 0.45 2.81 REE/weight NM_001001684 intergenic unknown function
rs7222088 G 0.43 3.53 REE/Leanmass AK123100 intronic unknown function
rs2108683 A 0.11 3.48 FG COX10 intronic Respiratory chain
rs3744342 G 0.48 3.04 FI HS3ST3A1 intergenic heparan sulfate
rs3744342 G 0.48 2.91 IGR HS3ST3A1 intergenic heparan sulfate
rs6502302 A 0.01 2.87 HOMA HS3ST3A1 intergenic heparan sulfate
rs9908356 G 0.21 3.19 SI PMP22 intergenic Peripheral nervous
rs2106795 T 0.14 3.79 SG HS3ST3A1 intergenic heparan sulfate
rs2996033 T 0.25 2.95 AIR HS3ST3A1 intergenic heparan sulfate
rs12453295 A 0.01 3.02 DI MYOCD intronic Cardiogenesis

Lipids/lipoprotein and
cardiovascular performance
rs4792303 A 0.05 2.80 TG RICH2 intronic GTPase activator
rs173160 C 0.34 3.22 TC MYOCD intergenic Cardiogenesis
rs11870163 T 0.42 3.11 LDL-c HS3ST3B1 intronic heparan sulfate
rs173160 C 0.34 2.72 cal. LDL-c MYOCD intergenic Cardiogenesis
rs8077611 A 0.01 3.54 HDL-c NM_001001684 intergenic unknown function
rs230922 T 0.30 5.21 HMED PMP22 intergenic Peripheral nervous
rs7214429 G 0.45 3.64 LMEDn MPRIP intronic Myosin phosphatase
rs7214429 G 0.45 3.20 LDLppd MPRIP intronic Myosin phosphatase
rs7214429 G 0.45 3.58 bMED MPRIP intronic Myosin phosphatase
rs7214091 C 0.40 4.05 sBP TNFRSF13B intergenic heparan sulfate
rs1233861 A 0.23 3.36 dBP MYOCD intergenic Cardiogenesis
rs12944789 C 0.36 4.36 Pulse NM_001001684 intergenic unknown function

Adipokine
and
cytokines
rs8070118 G 0.41 2.22 Adiponectin HS3ST3A1 intergenic heparan sulfate
rs2906985 G 0.06 3.75 Leptin CDRT4 intronic unknown function
rs9915627 A 0.21 4.13 TNF-alpha HS3ST3A1 intergenic heparan sulfate
rs9904641 T 0.27 3.48 IL-1β CDRT4 downstream unknown function
rs1736202 C 0.41 3.60 IL-6 COPS3 intronic signal transduction