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Chunk #5 — Methods — SNP Selection and Genotyping

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Association of blood lipids with common DNA sequence variants at 19 genetic loci in the multiethnic United States National Health and Nutrition Examination Survey III.
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We selected 21 SNPs from 19 loci that exceeded genome-wide statistical significance (P < 5 × 10−8) in two recently published GWA studies for LDL cholesterol, HDL cholesterol, and triglycerides.2, 3 Eight of these loci had been newly identified. SNPs at the new loci included the following: rs3794991 (near CILP2/PBX4, LDL cholesterol and triglycerides); rs646776 (near CELSR2/PSRC1/SORT1, LDL cholesterol); rs4846914 (in GALNT2, HDL cholesterol and triglycerides); rs10774708 (in MMAB/MVK, HDL cholesterol); rs17145738 (near BCL7B/TBL2/MLXIPL, triglycerides); rs17321515 (near TRIB1, triglycerides); rs1748195 (ANGPTL3/DOCK7/ATG4C, triglycerides); and rs1260326 (GCKR, triglycerides). SNPs at the 11 additional loci included the following: rs6511720 and rs1529729 (LDLR, LDL cholesterol); rs11591147 (PCSK9, LDL cholesterol); rs12654264 (HMGCR, LDL cholesterol); rs4420638 (APOE-C1-C4-C2 cluster, LDL cholesterol); rs693 (APOB, LDL cholesterol); rs2156552 (LIPG, HDL cholesterol); rs1800588 (LIPC, HDL cholesterol); rs1800775 (CETP, HDL cholesterol); rs328 (LPL, HDL cholesterol, triglycerides); rs3890182 (ABCA1, HDL cholesterol); and rs3135506 and rs662799 (APOA5, HDL cholesterol and triglycerides).8–16 rs6511720 and rs1529729 have a low degree of linkage disequilibrium within the LDLR gene in populations of European (r2=0.085) and African (r2=0.167) ancestry. rs3135506 and rs662799 tag two known haplotypes within the APOA5 gene. 17