Table 4.
GWAS- Associated Phenotype |
Phenotype-Associated SNP From GWAS (Mapped Gene) |
Expressed Gene Associated With SNP (cis, trans) |
SNP-Gene R2 |
SNP-Gene P Value |
Gene- Phenotype R2 |
Gene- Phenotype P Value |
SNP-Phenotype β (Controlling for Expression) |
Proportion of Mediation of SNP-Phenotype Association by Expression, % |
---|---|---|---|---|---|---|---|---|
HDL-C | rs7120118 (NR1H3) |
DDB2 (cis) |
0.0069 | 1.7×10−9 | 0.0033 | 9.1×10−7 | 0.17 | 18.0 |
MADD (cis) |
0.015 | 2.6×10−19 | 0.0055 | 1.9×10−5 | 0.22 | 24.0 | ||
rs174546/rs174547/ rs174548 |
FADS1 (cis) |
0.046 | 9.4×10−56 | 0.0037 | 3.1 ×10−8 | −0.45 | 45.8 | |
(FADS1) |
SREBF2 (trans) |
0.0054 | 8.9×10−8 | 0.015 | 2.2×10−24 | −0.26 | 21.1 | |
LDLR (trans) |
0.005 | 2.9×10−7 | 0.0084 | 1.1×1012 | −0.21 | 18.6 | ||
rs964184 (ZNF259) |
PPM1B (trans) |
0.0051 | 2.3×10−7 | 0.0017 | 6.1 ×10−5 | −0.073 | 3.7 | |
YPEL5 (trans) |
0.0056 | 6.1 ×10−8 | 0.0085 | 1.5×10−12 | −0.13 | 7.0 | ||
rs4759375 (SBN01) |
CDK2AP1 (cis) |
0.0047 | 6.1 ×10−7 | 0.0074 | 1.6×10−6 | 0.26 | 10.1 | |
rs3136441 (F2) |
DDB2 (cis) |
0.012 | 1.1×10−15 | 0.0033 | 9.1 ×10−7 | 0.30 | 32.4 | |
s2271293/rs16942887 (NUTF2/PSKH1) |
DPEP2 (cis) |
0.0061 | 1.3×10−8 | 0.015 | 5.9×10−16 | 0.41 | 23.2 | |
SLC12A4 (cis) |
0.0046 | 9.2×10−8 | 0.0035 | 4.6×10−4 | 0.14 | 8.3 | ||
HDL-C | rs255049 (DPEP3) |
DPEP2 (cis) |
0.0084 | 2.5×10−11 | 0.015 | 5.9×10−16 | 0.38 | 43.7 |
SLC12A4 (cis) |
0.0045 | 1.2×10−6 | 0.0035 | 4.6×10−4 | 0.11 | 13.3 | ||
LDL-C | rs964184 (ZNF259) |
PCSK7 (cis) |
0.0038 | 7.0×10−6 | 0.0040 | 3.3×10−4 | 0.15 | 7.5 |
rs174546 (FADS1) |
LDLR (trans) |
0.005 | 2.9×10−7 | 0.0034 | 9.6×10−13 | −0.35 | 28.5 | |
FADS1 (cis) |
0.046 | 9.4×10−56 | 0.0018 | 4.4×10−7 | −0.72 | 58.6 | ||
Triglycerides | rs10761731 (JMJD1C) |
CXCL5 (trans) |
0.0061 | 1.4×10−8 | 0.012 | 2.9×10−15 | −0.0063 | 17.0 |
ITGB3 (trans) |
0.0062 | 1.2×10−8 | 0.011 | 1.3×10−11 | −0.0042 | 11.8 | ||
AQ10 (trans) |
0.0067 | 2.9×10−9 | 0.0044 | 3.3×10−5 | −0.0046 | 12.8 | ||
ITGA2B (trans) |
0.0051 | 2.4×10−7 | 0.02 | 7.5×10−6 | −0.0063 | 16.6 | ||
CLU (trans) |
0.005 | 2.7×10−7 | 0.022 | 9.9×10−23 | −0.0066 | 17.6 | ||
rs174546/rs174558 (FADS1) |
FADS1 (cis) |
0.046 | 9.4×10−56 | 0.0017 | 2.7×10−6 | 0.011 | 47.4 | |
Triglycerides | rs174546/rs174558 (FADS1) |
SREBF2 (trans) |
0.0054 | 8.9×10−8 | 0.017 | 1.1×10−26 | 0.0074 | 27.6 |
LDLR (trans) |
0.005 | 2.9×10−7 | 0.0024 | 2.8×10−7 | 0.0038 | 15.1 | ||
rs4938303 (RPL15P15, BUD13) |
PCSK7 (cis) |
0.0041 | 3.64×10−6 | 0.0047 | 2.6×10−11 | 0.0035 | 5.0 | |
rs651821 (APOA5) |
SREBF2 (trans) |
0.0047 | 6.4×10−7 | 0.017 | 1.1×10−26 | 0.014 | 9.8 | |
rs964184 (ZNF259) |
PPM1B (trans) |
0.0051 | 2.26×10−7 | 0.0087 | 3.0×10−19 | 0.0055 | 4.4 | |
YPEL5 (trans) |
0.0056 | 6.11×10−8 | 0.027 | 1.3×10−38 | 0.0071 | 5.7 |
GWAS indicates genome-wide association studies; HDL-C, high-density lipoprotein cholesterol; LDL, low-density lipoprotein cholesterol; R2, percent variance explained; SNP, single nucleotide polymorphism; and /, SNP in linkage disequilibrium (R2 > 0.8).