Dataset Information

Genome-Wide Association Study of Peripheral Arterial Disease in a Japanese Population.

ABSTRACT: Characteristics of peripheral arterial disease (PAD) are the occlusion or stenosis of multiple vessel sites caused mainly by atherosclerosis and chronic lower limb ischemia. To identify PAD susceptible loci, we conducted a genome-wide association study (GWAS) with 785 cases and 3,383 controls in a Japanese population using 431,666 single nucleotide polymorphisms (SNP). After staged analyses including a total of 3,164 cases and 20,134 controls, we identified 3 novel PAD susceptibility loci at IPO5/RAP2A, EDNRA and HDAC9 with genome wide significance (combined P = 6.8 x 10-14, 5.3 x 10-9 and 8.8 x 10-8, respectively). Fine-mapping at the IPO5/RAP2A locus revealed that rs9584669 conferred risk of PAD. Luciferase assay showed that the risk allele at this locus reduced expression levels of IPO5. To our knowledge, these are the first genetic risk factors for PAD.

SUBMITTER: Matsukura M

PROVIDER: S-EPMC4619060 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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Genome-Wide Association Study of Peripheral Arterial Disease in a Japanese Population.

Matsukura Mitsuru M Ozaki Kouichi K Takahashi Atsushi A Onouchi Yoshihiro Y Morizono Takashi T Komai Hiroyoshi H Shigematsu Hiroshi H Kudo Toshifumi T Inoue Yoshinori Y Kimura Hideo H Hosaka Akihiro A Shigematsu Kunihiro K Miyata Teturo T Watanabe Toshiaki T Tsunoda Tatsuhiko T Kubo Michiaki M Tanaka Toshihiro T

PloS one 20151021 10

Characteristics of peripheral arterial disease (PAD) are the occlusion or stenosis of multiple vessel sites caused mainly by atherosclerosis and chronic lower limb ischemia. To identify PAD susceptible loci, we conducted a genome-wide association study (GWAS) with 785 cases and 3,383 controls in a Japanese population using 431,666 single nucleotide polymorphisms (SNP). After staged analyses including a total of 3,164 cases and 20,134 controls, we identified 3 novel PAD susceptibility loci at IPO ...[more]

PMID: 26488411

Dataset Information

Genome-Wide Association Study of Peripheral Arterial Disease in a Japanese Population.

Publications

Genome-Wide Association Study of Peripheral Arterial Disease in a Japanese Population.

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