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 |