Department of Legal Medicine, Shimane University Faculty of Medicine, Shimane, Japan.
Cell Biochem Funct. 2011 Mar;29(2):156-63. doi: 10.1002/cbf.1721. Epub 2011 Feb 2.
Three polymorphisms, Paraoxonase 1 (PON1) Q192R (C/G), endothelial nitric oxide synthase (eNOS) E298D (G/T) and eNOS T-786C have been suggested to be potentially associated with coronary artery spasm in Japanese patients. Data on worldwide populations are needed to clarify whether these associations could hold true for other populations. However, few data are available especially in Africans, spasm of which has been suggested to be an aetiology of myocardial infarction. Therefore, these polymorphisms were investigated in three Africans, Ovambos (n = 123), Ghanians (n = 118) and Xhosas (n = 96), together with Japanese (n = 96), by using polymerase chain reaction-restriction fragment length polymorphism analysis. Genotype-distributions of all these SNPs in African populations were significantly different from those in Caucasians, whereas were similar to those in Japanese population. African populations exhibit relatively higher frequency of spasm-associated G192 allele in PON1 Q192R being similar to Japanese population, however frequencies of spasm-associated T298 allele and -C786 allele in SNP eNOS E298D and T-786C, respectively, were conversely lower in Africans than Caucasians. Although healthy subjects have been recruited in this study, these findings may provide genetic background for elucidation of aetiology of spasm.
三种多态性,对氧磷酶 1(PON1)Q192R(C/G)、内皮型一氧化氮合酶(eNOS)E298D(G/T)和 eNOS T-786C 被认为与日本患者的冠状动脉痉挛有关。需要全球人群的数据来阐明这些关联是否适用于其他人群。然而,特别是在非洲人中,这些数据很少,有人认为非洲人的痉挛是心肌梗死的病因。因此,通过聚合酶链反应-限制性片段长度多态性分析,在三个非洲人群(Ovambos,n=123;加纳人,n=118;和 Xhosas,n=96)中研究了这些多态性,同时还研究了日本人(n=96)。所有这些 SNP 在非洲人群中的基因型分布与白种人显著不同,而与日本人相似。非洲人群中 PON1 Q192R 的痉挛相关 G192 等位基因的频率相对较高,与日本人相似,然而 SNP eNOS E298D 和 T-786C 的痉挛相关 T298 等位基因和-C786 等位基因的频率在非洲人中则相反低于白种人。尽管本研究中招募了健康受试者,但这些发现可能为阐明痉挛的病因提供遗传背景。