A69S 和 R38X ARMS2 及 Y402H CFH 基因多态性与波兰年龄相关性黄斑变性新生血管的相关性：一项简要报告。
A69S and R38X ARMS2 and Y402H CFH gene polymorphisms as risk factors for neovascular age-related macular degeneration in Poland - a brief report.
机构信息
Department of Ophthalmology, OSK, Katowice, Poland.
出版信息
Med Sci Monit. 2012 Feb;18(2):PR1-3. doi: 10.12659/msm.882447.
BACKGROUND
The wet form of age-related macular degeneration (ARMD) is a leading cause of irreversible blindness in Caucasians. Our purpose was to assess influence of gene polymorphisms A69S (rs10490924) and R38X (rs2736911) ARMS2 and Y402 (rs1061170) CFH on wet ARMD risk in a Polish population.
MATERIAL/METHODS: 130 unrelated patients (90 with wet ARMD and 40 controls) took part in the study. Dry blood was used for DNA isolation. PCR amplification and gene sequencing were performed. In subjects with R38X and A69S, SNP gene cloning was used to exclude the possible combined variant.
RESULTS
Homozygous Y402H and A69S conferred a significance risk of wet ARMD in Poland: Y402H odds ratio (OR) was 5.57 (95% confidence interval: 1.58-19.6), p=0.002; and A69S OR was 7.72 (95% confidence interval: 1.73-34.36), p=0.001. R38X is probably more common in healthy subjects: OR was 0.45 (95% confidence interval: 0.19-1.05), p=0.053.
CONCLUSIONS
The etiologic role in ARMD of A69S ARMS2 and Y402H CFH gene variants were confirmed in a Polish population for the first time. R38X variant of ARMS2 seems to be protective from wet ARMD.
背景
年龄相关性黄斑变性（AMD）的湿性形式是白种人不可逆转失明的主要原因。我们的目的是评估 ARMS2 基因的 A69S(rs10490924)和 R38X(rs2736911)以及 CFH 基因的 Y402(rs1061170)多态性对波兰人群湿性 AMD 风险的影响。
材料/方法：130 名无关患者（90 名湿性 AMD 患者和 40 名对照者）参与了这项研究。使用干血样进行 DNA 分离。进行 PCR 扩增和基因测序。对 R38X 和 A69S 患者进行 SNP 基因克隆，以排除可能的复合变异。
结果
纯合 Y402H 和 A69S 赋予了波兰人患湿性 AMD 的显著风险：Y402H 的比值比（OR）为 5.57（95%置信区间：1.58-19.6），p=0.002；A69S 的 OR 为 7.72（95%置信区间：1.73-34.36），p=0.001。R38X 在健康受试者中可能更为常见：OR 为 0.45（95%置信区间：0.19-1.05），p=0.053。
结论
ARMS2 的 A69S 和 CFH 基因变体在 ARMD 中的病因作用在波兰人群中首次得到了证实。ARMS2 的 R38X 变体似乎对湿性 AMD 有保护作用。
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