Letter abstract
Nature Genetics 39, 212 - 217 (2007)
Published online: 7 January 2007 | doi:10.1038/ng1945
A nonsynonymous SNP in PRKCH (protein kinase C 
) increases the risk of cerebral infarction
Michiaki Kubo1,2,3, Jun Hata1,2,3, Toshiharu Ninomiya1,2, Koichi Matsuda3, Koji Yonemoto1, Toshiaki Nakano2,4, Tomonaga Matsushita2,3, Keiko Yamazaki3, Yozo Ohnishi5, Susumu Saito5, Takanari Kitazono2, Setsuro Ibayashi2, Katsuo Sueishi4, Mitsuo Iida2, Yusuke Nakamura3 & Yutaka Kiyohara1
Cerebral infarction is the most common type of stroke and often causes long-term disability. To investigate the genetic contribution to cerebral infarction, we conducted a case-control study using 52,608 gene-based tag SNPs selected from the JSNP database. Here we report that a nonsynonymous SNP in a member of protein kinase C (PKC) family, PRKCH, was significantly associated with lacunar infarction in two independent Japanese samples (P = 5.1 
10-7, crude odds ratio of 1.40). This SNP is likely to affect PKC activity. Furthermore, a 14-year follow-up cohort study in Hisayama (Fukuoka, Japan) supported involvement of this SNP in the development of cerebral infarction (P = 0.03, age- and sex-adjusted hazard ratio of 2.83). We also found that PKC
was expressed mainly in vascular endothelial cells and foamy macrophages in human atherosclerotic lesions, and its expression increased as the lesion type progressed. Our results support a role for PRKCH in the pathogenesis of cerebral infarction.
- Department of Environmental Medicine, Kyushu University, Fukuoka 812-8582, Japan.
- Department of Medicine and Clinical Science, Kyushu University, Fukuoka 812-8582, Japan.
- Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, University of Tokyo, Tokyo 108-8639, Japan.
- Pathophysiological and Experimental Pathology, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, Japan.
- Laboratory for Genotyping, SNP Research Center, the Institute of Physical and Chemical Research (RIKEN), Yokohama 230-0045, Japan.
Correspondence to: Michiaki Kubo1,2,3 e-mail: mkubo@ims.u-tokyo.ac.jp
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