Mori Keisuke, Horie-Inoue Kuniko, Kohda Masakazu, Kawasaki Izumi, Gehlbach Peter L, Awata Takuya, Yoneya Shin, Okazaki Yasushi, Inoue Satoshi
Department of Ophthalmology, Saitama Medical University, Faculty of Medicine, 38 Morohongo, Moroyama, Iruma, Saitama, 350-0495, Japan.
Division of Gene Regulation and Signal Transduction, Saitama Medical University, Faculty of Medicine, Iruma, Saitama, Japan.
J Hum Genet. 2007;52(7):636-641. doi: 10.1007/s10038-007-0162-1. Epub 2007 Jun 14.
The purpose of this investigation was to determine whether the high-temperature requirement A-1 (HTRA1) gene polymorphism is associated with age-related macular degeneration (AMD) in native, unrelated Japanese patients. A total of 123 patients with AMD and 133 control subjects without AMD were recruited for this study. The single-nucleotide polymorphism (SNP) rs11200638 in the HTRA1 gene was assessed using a TaqMan assay. The risk A allele frequencies in the AMD cases and control patients were 0.577 and 0.380, respectively, and were associated with a significant risk of developing AMD (p=7.75x10(-6)). The results were more significant in subtype analyses with wet AMD (p=5.96x10(-7)). We conclude that the rs11200638 variant in the HTRA1 gene is strongly associated with AMD in the Japanese population. This result supports the hypothesis that the HTRA1 gene may increase susceptibility to AMD development and can participate in a potential new molecular pathway for AMD pathogenesis by extending this association across diverse ethnicities.
本研究旨在确定高温需求蛋白A-1（HTRA1）基因多态性是否与日本本土无亲缘关系的患者年龄相关性黄斑变性（AMD）相关。本研究共招募了123例AMD患者和133例无AMD的对照受试者。使用TaqMan分析评估HTRA1基因中的单核苷酸多态性（SNP）rs11200638。AMD病例组和对照组患者的风险A等位基因频率分别为0.577和0.380，且与发生AMD的显著风险相关（p = 7.75×10⁻⁶）。在湿性AMD的亚型分析中结果更显著（p = 5.96×10⁻⁷）。我们得出结论，HTRA1基因中的rs11200638变异与日本人群中的AMD密切相关。这一结果支持了以下假设：HTRA1基因可能会增加患AMD的易感性，并通过在不同种族中扩展这种关联，参与AMD发病机制的潜在新分子途径。
