Identification of evidence suggestive of an association with peripheral arterial disease at the OSBPL10 locus by genome-wide investigation in the Japanese population.

AIM:Peripheral arterial disease is a common cause of cardiovascular morbidity and an independent predictor of cardiovascular mortality. However, little is known about the genetic basis of To elucidate this, we performed a two-staged genome-wide association study in Japanese individuals. METHODS:We initially tested 222,285 single-nucleotide polymorphisms (SNPs). After the first screening in a panel of 195 cases and 1,358 controls, 2,696 SNPs (1.2%) were further genotyped in the second screening using another panel of 699 duanyu1563 cases and 1540 controls. In both screenings, controls were subjects affected with some diseases other than analyzed in the combined panel, the strongest signal of duanyu1563 association was observed at rs1902341 in the intron of OSBPL10 (p=4.7E-7 for trend test; OR=1.31, 95% CI 1.18-1.46). Also, duanyu1563 was modestly associated at several other loci such as rs2554503 in CSMD1 (p=5.7E-5; OR=1.32, 95% CI 1.15-1.51) or rs235243 in VSP13D (p=0.04; OR=1.18, 95% CI 1.01-1.37). CONCLUSION:Our genome-wide exploration identified suggestive evidence of duanyu1563 association at the OSBPL10 locus. Because the association has not reached a genome-wide significant level, further replication study is warranted for verification in the Japanese population.

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