Table 6. Association of common LIPG variants with plasma EL concentrations in SIRCA.
| LIPG Variant (ref. allele>minor allele) | MAF | Effect of minor allele on HDL-C (P value)e | Genotype (Nf) | Mean plasma ELg | Effect of minor allele on plasma EL (P value)h |
| Combined Haplotypea | 0.221a | ↓ (8.64×10−10)a | AA (537)a | 483.5±342.1a | ↑ (0.041)a |
| AG (202) | 538.4±368.9 | ||||
| GG (21) | 540.2±367.9 | ||||
| rs4939883b (C>T) | 0.190c | ↓ (4.34×10−49) | CC (542) | 481.8±353.5 | ↑ (1.43×10−3) |
| CT (203) | 538.8±342.0 | ||||
| TT (10) | 772.9±452.8 | ||||
| rs2156552b (T>A) | 0.190c | ↓ (5.53×10−45) | TT (419) | 486.2±362.1 | ↑ (3.48×10−3) |
| TA (146) | 545.1±346.5 | ||||
| AA (5) | 852.1±565.7 | ||||
| rs34474737 (229 T>G) | 0.278d | N/A | TT (391) | 520.1±338.3 | ↓ (3.38×10−3) |
| TG (305) | 505.7±379.3 | ||||
| GG (70) | 417.6±302.0 | ||||
| rs2000813 (584 C>T; Thr111Ile) | 0.279c | ↑ (1.92×10−14) | CC (352) | 521.2±343.5 | ↓ (7.00×10−4) |
| CT (330) | 492.7±362.9 | ||||
| TT (79) | 417.4±319.9 |
Haplotype block containing variants rs3829632, rs4245232, rs9958947, rs4939875, rs6507929, rs4939583, rs3819166, and rs2000812. Representative minor allele frequency (MAF; from HapMap, CEU Set, Caucasians from Utah, USA) and effect of minor allele on HDL-C in GLGC GWAS are given for the rs4245232 variant. Genotyping in SIRCA was completed for the rs3829632 variant and this was used to assess association of the minor allele of this variant with mean plasma EL concentration. Individual variants, their chromosomal location, and P values for the association of the minor alleles with HDL-C in the Global Lipids Genetics Consortium (GLGC) GWAS are given in Table S2. R2 values for LD of individual variants of the haplotype block are given.
Identified in the GLGC GWAS [13].
From HapMap (CEU Set, Caucasians from Utah, USA).
From dbSNP (CEU Set, Caucasians from Utah, USA).
Association with HDL-C in the GLGC GWAS.
Number of individuals in SIRCA with given genotype whose plasma EL concentrations were measured.
Pre-heparin plasma EL concentrations (ng/mL), shown as mean ± S.D.
Association of log-transformed mean plasma EL concentration with minor allele for each variant in SIRCA.