Table 2.
Genome‐Wide Significant Associations With CEC Phenotypes in 5293 Individuals
| SNP | Chromosome (Position) | CEC | Allele A1/A2 | EAF | Model 1 | Model 2 (Adjusted for HDL‐C and Triglycerides) | Locus | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| β | SE | P Value | β | SE | P Value | ||||||
| rs75657792 | 2 (28 965 430) | J774 basal | C/G | 0.977 | −0.3361 | 0.0752 | 7.78×10−6 | −0.4467 | 0.0759 | 3.95×10−9* | PPP1CB/PLB1 |
| rs77069344 | 8 (19 821 782) | T/G | 0.099 | 0.2008 | 0.0327 | 7.96×10−10* | 0.0671 | 0.033 | 0.04178 | LPL | |
| rs2070895 | 15 (58 723 939) | A/G | 0.770 | −0.1424 | 0.0232 | 8.49×10−10* | −0.059 | 0.0234 | 0.01178 | LIPC | |
| rs247616 | 16 (56 989 590) | T/C | 0.686 | −0.1466 | 0.0211 | 4.08×10−12* | 0.0275 | 0.0211 | 0.193 | CETP | |
| rs247616 | 16 (56 989 590) | J774 stimulated | T/C | 0.686 | −0.1308 | 0.0209 | 4.23×10−10* | 0.0194 | 0.0211 | 0.3586 | CETP |
| rs445925 | 19 (45 415 640) | A/G | 0.886 | −0.1933 | 0.0306 | 2.57×10−10* | −0.1513 | 0.031 | 1.03×10−6 | APOE/C1/C2/C4 | |
| rs964184 | 11 (116 648 917) | J774 ABCA1 dependent | C/G | 0.857 | 0.2019 | 0.0281 | 6.78×10−13* | 0.0756 | 0.0287 | 0.008398 | APOA1/C3/A4/A5 |
| rs4889908 | 17 (77 657 521) | T/C | 0.715 | 0.1047 | 0.0221 | 2.22×10−6 | 0.1341 | 0.0222 | 1.57×10−9* | RBFOX3/ENPP7 | |
| rs445925 | 19 (45 415 640) | A/G | 0.886 | −0.2155 | 0.0303 | 1.20×10−12* | −0.1586 | 0.0309 | 2.89×10−7 | APOE/C1/C2/C4 | |
| rs141622900 | 19 (45 426 792) | BHK stimulated | A/G | 0.942 | −0.2833 | 0.0417 | 1.03×10−11* | −0.2406 | 0.0418 | 8.81×10−9 | APOE/C1/C2/C4 |
The statistical threshold considers the number of variants (≈1 million independent), the number of CEC measures (n=4), and the number of statistical models (n=2) tested (α=6.25×10−9). * indicates significant P values. Coordinates are for build hg19 of the human genome. Alleles are on the positive strand. The EAF and the direction of the effect size (β) are for allele A2. Model 1 is adjusted for sex, age squared, coronary artery disease status, experimental batches, statin treatment, and the first 10 principal components. Model 2 includes the same covariates as model 1, but also HDL‐C and triglyceride levels. BHK indicates baby hamster kidney; CEC, cholesterol efflux capacity; EAF, effect allele frequency; HDL‐C, high‐density lipoprotein cholesterol; SNP, single‐nucleotide polymorphism.