Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration
Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration
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DOI：
10.1086/431426
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发表时间：
2005-07-01
影响因子：
9.8
通讯作者：
Swaroop, A
中科院分区：
文献类型：
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作者：
Zareparsi, S;Branham, KEH;Swaroop, A
使用来自单个中心的病例和对照的大样本，我们表明补体因子H基因的外显子9（Y 402 H）中的T -> C取代与年龄相关性黄斑变性的易感性密切相关，年龄相关性黄斑变性是老年人失明的最常见原因。C等位基因频率在病例组为0.61，在年龄匹配的对照组为0.34（P <1x 10（-24））。基因型频率在病例组和对照组之间也有显著差异（x（2）=112.68 [ 2个自由度]; P <1x 10（-24））。乘法模型很好地拟合了数据，我们估计高危C等位基因的群体频率为0.39（95%可信区间0.36 - 0.42），基因型相对危险度为2.44（95%可信区间2.08 - 2.83），CC纯合子为5.93（95%可信区间4.33 - 8.02）。
Using a large sample of cases and controls from a single center, we show that a T -> C substitution in exon 9 ( Y402H) of the complement factor H gene is strongly associated with susceptibility to age- related macular degeneration, the most common cause of blindness in the elderly. Frequency of the C allele was 0.61 in cases, versus 0.34 in age-matched controls (P < 1x10(-24)). Genotype frequencies also differ markedly between cases and controls ( x(2)=112.68 [ 2 degrees of freedom]; P < 1x10(-24)). A multiplicative model fits the data well, and we estimate the population frequency of the high- risk C allele to be 0.39 ( 95% confidence interval 0.36 - 0.42) and the genotype relative risk to be 2.44 ( 95% confidence interval 2.08 - 2.83) for TC heterozygotes and 5.93 ( 95% confidence interval 4.33 - 8.02) for CC homozygotes.