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Ethnic differences in genetic markers for hypertension in the two major lineages of modern Japanese, Jomon and Yayoi

现代日本两大世系——绳文族和弥生族高血压遗传标记的种族差异

基本信息

批准号：
13672412
负责人：
SHOJI Masaru
金额：
$ 2.3万
依托单位：
Hirosaki University
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (C)
财政年份：
2001
资助国家：
日本
起止时间：
2001 至 2004
项目状态：
已结题

项目摘要

Although some ethnic subpopulations have more hypertension, it is yet uncertain whether the accumulation of sick genetic variations plays a role in their susceptibility for hypertension. The objective of the present study was to explore the possible differences in the prevalence of genetic markers for hypertension and in its association with hypertension between the two major lineages of modern Japanese, Jomon and Yayoi. One third of the representative male residents in Aomori prefecture in northern Japan were positive for the Y chromosome Alu insertion polymorphism (YAP) at DYS287 and estimated as Jomon descendants, whereas the rest appeared to be Yayoi descendants because they were without Alu insertion. Between the groups with and without Alu insertion, there were differences in genotype frequencies of endothelial nitric oxide (ecNOS) 4b/a, aldehyde dehydrogenase-2 Glu487Lys, and mitochondrial C16223T polymorphisms, but not of other twelve hypertension related gene polymorphisms. In the YAP positive population, there was an association between hypertension and ecNOS variation. However, no association was found in the YAP negative population. We further studied relationship of YAP and ecNOS 4b/a variation in Hong Kong male subjects. In Hong Kong, Alu negatives were dominant and also had higher frequency in ecNOS 4b/a variants than the YAP positives did. Namely, a significant linkage disequilibrium was found between ecNOS 4b/a polymorphism and YAP in both Aomori and Hong Kong. These results suggest that the mixture ratio of ethnic subpopulations may be influential on the association of hypertension with some gene polymorphism when there is a link between YAP and the polymorphism.

虽然一些种族亚群有更多的高血压，但尚不确定患病遗传变异的积累是否在他们对高血压的易感性中发挥作用。本研究的目的是探讨高血压的遗传标记的患病率及其与现代日本人的两个主要血统，绳纹和弥生之间的高血压的关联可能存在的差异。在日本北方的青森县，三分之一的男性居民在DYS 287处的Y染色体Alu插入多态性（雅普）呈阳性，估计为绳纹后裔，而其余的人似乎是弥生后裔，因为他们没有Alu插入。Alu插入组与非Alu插入组之间，内皮型一氧化氮合酶（ecNOS）4 b/a、乙醛脱氢酶-2 Glu 487 Lys和线粒体C16223 T多态性的基因型频率存在差异，而其他12个高血压相关基因多态性的基因型频率无差异。在雅普阳性人群中，高血压与ecNOS变异相关。然而，在雅普阴性人群中未发现相关性。进一步研究了香港男性雅普与ecNOS 4 b/a变异的关系。在香港地区，Alu阴性者占优势，ecNOS 4 b/a变异体中Alu阴性者的频率也高于雅普阳性者。也就是说，在青森和香港都发现ecNOS 4 b/a多态性与雅普之间存在显著的连锁不平衡。这些结果表明，当雅普与某些基因多态性存在联系时，种族亚群的混合比例可能会影响高血压与该基因多态性的关联。