Genetic analysis of typical wet-type age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese population.
Genetic analysis of typical wet-type age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese population.
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DOI：
10.1007/s12177-009-9047-1
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发表时间：
2009-12-22
期刊：
影响因子：
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通讯作者：
Iwata T
中科院分区：
文献类型：
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作者：
Goto A;Akahori M;Okamoto H;Minami M;Terauchi N;Haruhata Y;Obazawa M;Noda T;Honda M;Mizota A;Tanaka M;Hayashi T;Tanito M;Ogata N;Iwata T
视网膜相关性黄斑变性（AMD）是老年人失明的常见原因。高加索患者主要受干性AMD的影响，而日本患者主要患有湿性AMD和/或息肉状脉络膜血管病变（PCV）。尽管在许多种族中，10 q26（ARMS 2/HTRA 1）区域与干性AMD、典型湿性AMD和PCV的遗传相关性已经建立，但1 q32（CFH）区域的贡献在这些群体中似乎不同。在这里，我们发现ARMS 2/HTRA 1基因座的单核苷酸多态性（SNP）与日本典型湿性AMD的全基因组相关（rs 10490924：，OR = 4.16）和PCV（rs 10490924：，OR = 2.72），其次是CFH（rs 800292：，OR = 2.08;，OR = 2.00），这与之前在高加索人群中的研究不同。补体成分C3基因rs 2241394位点的SNP与PCV有显著相关性（OR = 3.47）。我们的结论是，干性AMD，典型的湿性AMD，PCV有共同的和不同的遗传风险，变得明显时，比较日本与高加索人群。本文的在线版本（doi：10.1007/s12177-009-9047-1）包含补充材料，可供授权用户使用。
Age-related macular degeneration (AMD) is a common cause of blindness in the elderly. Caucasian patients are predominantly affected by the dry form of AMD, whereas Japanese patients have predominantly the wet form of AMD and/or polypoidal choroidal vasculopathy (PCV). Although genetic association in the 10q26 (ARMS2/HTRA1) region has been established in many ethnic groups for dry-type AMD, typical wet-type AMD, and PCV, the contribution of the 1q32 (CFH) region seem to differ among these groups. Here we show a single nucleotide polymorphism (SNP) in the ARMS2/HTRA1 locus is associated in the whole genome for Japanese typical wet-type AMD (rs10490924: , OR = 4.16) and PCV (rs10490924: , OR = 2.72) followed by CFH (rs800292: , OR = 2.08; , OR = 2.00), which differs from previous studies in Caucasian populations. Moreover, a SNP (rs2241394) in complement component C3 gene showed significant association with PCV (, OR = 3.47). We conclude that dry-type AMD, typical wet-type AMD, and PCV have both common and distinct genetic risks that become apparent when comparing Japanese versus Caucasian populations. The online version of this article (doi:10.1007/s12177-009-9047-1) contains supplementary material, which is available to authorized users.