Abstract
Recent genome-wide association study using four prospective population-based cohorts identified two single-nucleotide polymorphisms (SNPs) on chromosome 12p13, rs12425791 and rs11833579, to be significantly associated with the incidence of atherothrombotic stroke. To examine the association of these SNPs with atherothrombotic stroke in the Japanese population, we carried out a case–control association study using a total of 3784 cases and 3102 controls. We also examined the effect of these SNPs on the subtypes of ischemic stroke. Association analysis was carried out using logistic regression model after adjustment of age, sex and cardiovascular risk factors. Rs12425791 was significantly associated with atherothrombotic stroke (P=0.0084, odds ratio (OR)=1.15). When we analyzed effects of rs12425791 on ischemic stroke subtypes, rs12425791 was significantly associated with both small-artery occlusion (P=0.015, OR=1.15) and large-artery atherosclerosis (P=0.024, OR=1.19). Rs11833579 showed no association with atherothrombotic stroke or its subtypes in our population. Our data suggest that rs12425791 on chromosome 12p13 is a genetic marker for atherothrombotic stroke in multiethnic population.
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Acknowledgements
We thank the residents of Hisayama town and the patients with ischemic stroke for their participation; T Omae and the staff of the Division of Health and Welfare of Hisayama for their cooperation; many members of the Hisayama study for assistance; T Ago, H Ooboshi, M Kamouchi, H Sugimori, J Kuroda, Y Kumai, N Hagiwara, S Yoshimura (Kyushu University Hospital), K Tamaki, Y Wakugawa (Hakujyuji Hospital), K Fujii (Fukuoka Red Cross Hospital), Y Okada, K Toyoda (National Hospital Organization, Kyushu Medical Center), T Nagao (Imazu Red Cross Hospital), H Nakane (National Hospital Organization, Fukuoka Higashi Medical Center), S Ibayashi, Y Yamashita, K Kusuda (Seiai Rehabilitation Hospital) for clinical sample collection. We thank all the patients who participated in BioBank Japan project. We also thank all members of BioBank Japan, Institute of Medical Science, the University of Tokyo, and of the Center for Genomic Medicine, RIKEN Yokohama Institute, for their contribution to the completion of our study. This work was supported in part by the Ministry of Education, Culture, Sports, Science and Technology, Japan.
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Matsushita, T., Umeno, J., Hirakawa, Y. et al. Association study of the polymorphisms on chromosome 12p13 with atherothrombotic stroke in the Japanese population. J Hum Genet 55, 473–476 (2010). https://doi.org/10.1038/jhg.2010.45
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DOI: https://doi.org/10.1038/jhg.2010.45
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