Table 3.
Variant Associations with Blood Lipids that Have Not Been Previously Reported
Trait | Gene | rsID | Mutation (Substitution) | Betaa | p Value | Conditional Variants | pconditional | EA MAF | AA MAF |
---|---|---|---|---|---|---|---|---|---|
Ancestry: EA | |||||||||
HDL-C | ANGPTL8 | rs145464906 | c.361C>T (p.Gln121∗) | 10 mg/dl | 5.1 × 10−11 | rs737337 | 5.5 × 10−13 | 0.1% | 0.01% |
HDL-C | PAFAH1B2 | rs186808413 | c.482C>T (p.Ser161Leu) | 3 mg/dl | 2.2 × 10−10 | rs964184, rs3135506, rs2266788, rs76353203, rs14721066, rs140621530 | 2.1 × 10−11 | 1.1% | 0.2% |
Ancestry: AA | |||||||||
TG | COL18A1 | rs114139997 | c.331G>A (p.Gly111Arg) | −16% | 1.6 × 10−16 | – | – | 0.003% | 1.9% |
HDL-C | PCSK7 | rs142953140 | c.1511G>A (p.Arg504His) | 17 mg/dl | 4.9 × 10−20 | rs964184, rs3135506, rs2266788, rs76353203, rs14721066, rs140621530 | 3.4 × 10−20 | 0% | 0.2% |
Results are based on 42,208 European ancestry (EA) individuals and 14,330 African ancestry (AA) individuals. Abbreviations are as follows: TG, triglycerides; HDL-C, high-density lipoprotein cholesterol; MAF, minor allele frequency.
Effect estimate for triglycerides is based on the geometric mean.