The underlying pathogenesis of stroke is mediated by a variety of environmental risk factors as well as genetic ones. Thus, we have to evaluate the environmental factors precisely to identify the stroke-related gene polymorphisms. The Hisayama study, an epidemiological study of cardiovascular diseases, was established in 1961 in Hisayama, Japan. In 2002, a screening survey for the genetic study was performed in Hisayama. The Fukuoka Stroke Registry (FSR) is a hospital-based registration of stroke patients. Stroke specialists from eight medical centers in southern Japan have participated in FSR. In the present study, control and case subjects were recruited from the Hisayama study and FSR, respectively. We performed a genome-wide case-control study and found that a nonsynonymous SNP in PRKCH encoding a member of protein kinase C (PKCC eta) was significantly associated with brain infarction. As a candidate gene analysis, we investigated the role of NAD (P) H oxidase C242T polymorphism in the development of brain infarction. The C242T polymorphism was not associated with lacunar and atherothrombotic infarction; however, the presence of T-allele may have a protective role in the occurrence of atrial fibrillation and cardioembolic brain infarction. These studies may provide important information for the development of the therapeutic strategies against stroke.
[1]
S. Ibayashi,et al.
Polymorphism in the sorbin and SH3‐domain‐containing‐1 (SORBS1) gene and the risk of brain infarction in the Japanese population: the Fukuoka Stroke Registry and the Hisayama study
,
2008,
European journal of neurology.
[2]
S. Ibayashi,et al.
Polymorphisms in the Lymphotoxin Alpha Gene and the Risk of Ischemic Stroke in the Japanese Population
,
2008,
Cerebrovascular Diseases.
[3]
S. Ibayashi,et al.
NAD(P)H oxidase p22phox C242T polymorphism and ischemic stroke in Japan: the Fukuoka Stroke Registry and the Hisayama study
,
2007,
European journal of neurology.
[4]
Yusuke Nakamura,et al.
Functional SNP in an Sp1-binding site of AGTRL1 gene is associated with susceptibility to brain infarction.
,
2007,
Human molecular genetics.
[5]
Yusuke Nakamura,et al.
A nonsynonymous SNP in PRKCH (protein kinase C η) increases the risk of cerebral infarction
,
2007,
Nature Genetics.