Coronary artery disease susceptibility loci extensively tested in the present Japanese study.

A cororary artery disease (CAD) association study comprises two-tiered sample; the tier-1 was done in 1347 cases and 1.337 controls and the tier-2 done in 3,052 cases and 6.335 controls. Association results from the two tiers were combined by pooling the genotype counts.
ars735396 was genotyped in replacement for rs2259816 in the GWA study panel (r2 = 1.000 to rs735396 in HapMap JPT+CHB). Rs735396 is in LD with rs1169300 (r2 = 0.783 in HapMap JPT+CHB), which was tested for LDL-C association. The direction of association with CAD risk appears to be opposite to that for increased LDL-C in the HNF1A locus.
bFollowing the previous meta-analysis of CAD association with ApoE genotype (Benett et al. JAMA 2007, ref. 35), CAD risk was compared between E3/E3 individuals and E2 carriers (excluding E2/E4).
cAlleles are nominated as those in dbSNP Build 130 mapped on the strand of Human Genome Build 36.3.
dAllele frequencies in the Japanese general population from GeMDBJ (n = 964) or HapMap JPT (n = 90; rs662799, rs2259816, rs2303790, and rs7412) or Amagasaki Study panel (rs429358).