ARMS2 (LOC387715) Variants in Japanese Patients with Exudative Age-related Macular Degeneration and Polypoidal Choroidal Vasculopathy
ARMS2 (LOC387715) Variants in Japanese Patients with Exudative Age-related Macular Degeneration and Polypoidal Choroidal Vasculopathy
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DOI：
10.1016/j.ajo.2008.12.036
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发表时间：
2009-06-01
影响因子：
4.2
通讯作者：
Yoshimura, Nagahisa
中科院分区：
文献类型：
--
作者：
Gotoh, Norimoto;Nakanishi, Hideo;Yoshimura, Nagahisa
目得：确定ARMS 2基因多态性在日本老年黄斑变性（AMD）、息肉状脉络膜血管病变（PCV）患者和健康对照中的特征，并显示多态性与疾病的可能关联。设计：病例对照关联研究。研究了56名无关的日本AMD患者、55名PCV患者和77名对照者。对10号染色体上ARMS 2基因中最常见的多态性进行了重新测序。结果：共检测到22个多态性位点，其中13个与白色人AMD共有。缺失和插入多态性，de 1443 ins 54的序列，在日本人中引起ARMS 2信使核糖核酸不稳定的功能多态性，与白色人没有差异。在白色人群中观察到的多态性中，在日本人中未观察到rs 10490923（R3 H）以及其他7种多态性。一种单倍型包含rs 10490924（A69 S）的T等位基因和de 1443 ins 54多态性的变体，AMD的优势比为3.14（P=7.8 x 10（-6）），PCV的优势比为2.00（P= 0.0058）。在9个多态性是独特的日本人口，2个有一个较小的等位基因频率超过0.05，这2个多态性被列为non-risk haplotype.CONCLUSIONS：de 1443 ins 54多态性是一个常见的变异之间的白色和日本人口。它不仅与AMD密切相关，而且与PCV密切相关。(Am J Ophthalmol 2009;147：1037-1041. (C)2009年，Elsevier Inc.版权所有© 2016
PURPOSE: To determine the characteristics of the poly, morphisms in the ARMS2 gene in Japanese patients with age, related macular degeneration (AMD) and those with polypoidal choroidal vasculopathy (PCV) and in healthy controls, and also to show possible associations of the polymorphisms with the disease.DESIGN: Case-control association study.METHODS: Fifty,six unrelated Japanese individuals with AMD, 55 with PCV, and 77 controls were studied. The most common polymorphism in the ARMS2 gene on chromosome 10 was resequenced. Association tests were performed for inferred haplotypes.RESULTS: A total of 22 polymorphisms were identified, and 13 were shared with those in White persons with AMD. The sequence of the deletion,and,insertion polymorphism, de1443ins54, a functional polymorphism causing an instability of the messenger ribonucleic acid of ARMS2 in the Japanese, did not differ from that in White persons. Among the polymorphisms seen in the White population, rs10490923 (R3H) as well as 7 other polymorphisms were not observed in the Japanese. One haplotype, which contained the T allele of the rs10490924 (A69S) and the variant of de1443ins54 polymorphism, had an odds ratio of 3.14 (P=7.8 x 10(-6)) for AMD and 2.00 (P=.0058) for PCV. Among the 9 polymorphisms that were unique to the Japanese population, 2 had a minor allelic frequency of more than 0.05, and these 2 polymorphism were included as nonrisk haplotypes.CONCLUSIONS: The de1443ins54 polymorphism is a common variant between White and Japanese populations. It is strongly associated not only with AMD but also with PCV. (Am J Ophthalmol 2009;147:1037-1041. (C) 2009 by Elsevier Inc. All rights reserved.)