日本人群中典型湿性年龄相关性黄斑变性和息肉状脉络膜血管病变的基因分析。
Genetic analysis of typical wet-type age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese population.
作者信息
Goto Asako, Akahori Masakazu, Okamoto Haru, Minami Masayoshi, Terauchi Naoki, Haruhata Yuji, Obazawa Minoru, Noda Toru, Honda Miki, Mizota Atsushi, Tanaka Minoru, Hayashi Takaaki, Tanito Masaki, Ogata Naoko, Iwata Takeshi
出版信息
J Ocul Biol Dis Infor. 2009 Dec 22;2(4):164-175. doi: 10.1007/s12177-009-9047-1.
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: p = 4.1 x 10(-4), OR = 4.16) and PCV (rs10490924: p = 3.7 x 10(-8), OR = 2.72) followed by CFH (rs800292: p = 7.4 x 10(-5), OR = 2.08; p = 2.6 x 10(-4), 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 (p = 2.5 x 10(-3), 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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s12177-009-9047-1) contains supplementary material, which is available to authorized users.
年龄相关性黄斑变性(AMD)是老年人失明的常见原因。白种人患者主要受干性AMD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)。尽管在许多种族群体中,10q26(ARMS2/HTRA1)区域的基因关联已被确定与干性AMD、典型湿性AMD和PCV有关,但1q32(CFH)区域在这些群体中的作用似乎有所不同。在这里,我们发现ARMS2/HTRA1基因座中的一个单核苷酸多态性(SNP)在全基因组中与日本典型湿性AMD(rs10490924:p = 4.1×10^(-4),OR = 4.16)和PCV(rs10490924:p = 3.7×10^(-8),OR = 2.72)相关,其次是CFH(rs800292:p = 7.4×10^(-5),OR = 2.08;p = 2.6×10^(-4),OR = 2.00),这与之前对白种人人群的研究不同。此外,补体成分C3基因中的一个SNP(rs2241394)与PCV显示出显著关联(p = 2.5×10^(-3),OR = 3.47)。我们得出结论,干性AMD、典型湿性AMD和PCV具有共同和独特的遗传风险,在比较日本人群和白种人人群时变得明显。电子补充材料:本文的在线版本(doi:10.1007/s12177-009-9047-1)包含补充材料,授权用户可以获取。