Complement factor H polymorphism p.Tyr402His and cuticular Drusen.
Complement factor H polymorphism p.Tyr402His and cuticular Drusen.
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DOI：
10.1001/archopht.125.1.93
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发表时间：
2007
影响因子：
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通讯作者：
M. Grassi;J. Folk;T. Scheetz;C. M. Taylor;V. Sheffield;E. Stone
中科院分区：
文献类型：
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作者：
M. Grassi;J. Folk;T. Scheetz;C. M. Taylor;V. Sheffield;E. Stone
目的 确定年龄相关性黄斑变性 (AMD) 角质层玻璃膜疣表型患者的组氨酸频率。方法 使用标准阈值照片确定了 50 名符合角质层玻璃膜疣表型标准的个体。我们使用基于聚合酶链式反应的限制性消化分析对 DNA 样本进行基因分型。还对 700 名具有典型 AMD 的个体和 252 名对照个体进行了基因分型。采用Fisher精确检验分析等位基因频率差异的显着性。结果 角质层组中 70%（频率 +/- SE，0.70 +/- 0.05）存在组氨酸变异，更典型的 AMD 病例中有 55%（频率 +/- SE，0.55 +/- 0.01）存在组氨酸变异，对照组则有 34%（频率 +/- SE，0.34 +/- 0.02）存在组氨酸变异。角质层玻璃膜疣表型与组氨酸等位基因之间的关联非常显着（P = .003；比值比，2.0；95% 置信区间，1.21-3.07；与 AMD 病例 PC 相比，CFH 基因中的 p.Tyr402His 等位基因变异与 AMD 风险增加 3 倍相关。在患有以下疾病的患者中也注意到了组氨酸等位基因的高频率II型膜增生性肾小球肾炎。
OBJECTIVE To determine the histidine frequency in patients with the cuticular drusen phenotype of age-related macular degeneration (AMD). METHODS Fifty individuals were identified who met the criteria for the cuticular drusen phenotype using a standard threshold photograph. We genotyped DNA samples using a polymerase chain reaction-based restriction digest assay. Seven hundred individuals with typical AMD and 252 controls were also genotyped. Fisher exact test was used to analyze the significance of allele frequency differences. RESULTS The histidine variant was present in 70% (frequency +/- SE, 0.70 +/- 0.05) of the cuticular cohort, 55% (frequency +/- SE, 0.55 +/- 0.01) of the more typical AMD cases, and 34% (frequency +/- SE, 0.34 +/- 0.02) of controls. The association between the cuticular drusen phenotype and the histidine allele was highly significant (P = .003; odds ratio, 2.0; 95% confidence interval, 1.21-3.07; vs AMD cases PC, p.Tyr402His allelic variant in the CFH gene is associated with a 3-fold increased risk for AMD. A high frequency of the histidine allele has also been noted in patients with membranoproliferative glomerulonephritis type II.