title: The haplotype of the CACNA1B gene associated with cerebral infarction in a Japanese population.
abstract: Cerebral infarction (CI) is thought to be a multifactorial disease that is affected by several environmental factors and genetic variants. N-type voltage-gated calcium channels (VGCCs), which are expressed primarily in the neurons, have various roles in neuronal functions and are especially involved with neurotransmitter release at the sympathetic nerve terminals. We considered the α1B subunit of the N-type voltage-gated calcium channel (CACNA1B) to be representative of the general characteristics of this channel type. The aim of the present study was to assess the association of the human CACNA1B gene with the occurrence of CI via a haplotype-based case-control study that used single nucleotide polymorphisms (SNPs) from the Japanese population. A total of 165 CI patients and 314 controls were enrolled in the case-controlled studies that examined three SNPs of the human CACNA1B gene (rs7042521, rs11137351, rs10780199). There were significant differences between the CI and control groups for the overall distribution of the genotypes and the presence of the recessive rs10780199. Multiple logistic regression analyses revealed that even after adjusting for confounding factors (odds ratio: 1.716), the frequencies of the A/G and G/G genotypes of rs10780199 in the CI group were significantly higher than those observed in the control group (p = 0.021). Furthermore, the C-C-G and G-G-G haplotypes of rs7042521-rs11137351-rs10780199 were significantly more frequent in the CI group than in the control group (p = 0.024 and p < 0.000). In conclusion, significant differences were noted between the CI and control patients for the specific SNPs and haplotypes in the CACNA1B gene. The results indicate that these polymorphisms and haplotypes might be genetic markers for CI.
authors.affiliation: Division of Neurology, Dept of Medicine, Nihon University School of Medicine, Tokyo, Japan.
authors.forename: Mai
authors.initials: M
authors.lastname: Yamaguchi
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Nakayama
authors.forename: Zhenyan
authors.initials: Z
authors.lastname: Fu
authors.forename: Naoyuki
authors.initials: N
authors.lastname: Sato
authors.forename: Masayoshi
authors.initials: M
authors.lastname: Soma
authors.forename: Akihiko
authors.initials: A
authors.lastname: Morita
authors.forename: Shigeaki
authors.initials: S
authors.lastname: Hinohara
authors.forename: Nobutaka
authors.initials: N
authors.lastname: Doba
authors.forename: Tomohiko
authors.initials: T
authors.lastname: Mizutani
mesh_terms: D044466:Asian People; D020864:Calcium Channels, N-Type / Q000235:genetics*; D016022:Case-Control Studies; D002544:Cerebral Infarction / Q000235:genetics*; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D007564:Japan; D015810:Linkage Disequilibrium; D020641:Polymorphism, Single Nucleotide
chemical_list: C500545:CACNA1B protein, human; D020864:Calcium Channels, N-Type; D005819:Genetic Markers