Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Laboratory, Beijing, China.
Invest Ophthalmol Vis Sci. 2010 Feb;51(2):1116-20. doi: 10.1167/iovs.09-4265. Epub 2009 Oct 22.
To investigate whether the previously reported noncoding variant of the complement factor H (CFH) gene and two coding variants of the complement component 3 (C3) gene are associated with exudative age-related macular degeneration (AMD) in Chinese patients.
One hundred fifty Chinese patients with exudative AMD and 161 control individuals without AMD were recruited for the study. Genomic DNA was extracted from blood leukocytes. The noncoding variant of the CFH gene (rs1410996) and two coding variants of the C3 gene (rs2230199 and rs1047286) were genotyped by polymerase chain reaction (PCR) followed by allele-specific restriction enzyme digestion and direct sequencing.
Significant association was detected for exudative AMD with the CFH noncoding variant rs1410996. Frequencies of the risk C allele at rs1410996 were 72.0% in AMD cases versus 55.6% in controls (P < 0.001). The odds ratio for risk of AMD was 1.71 (95% confidence interval [CI], 0.82-3.54) for heterozygous TC genotype and 3.85 (95% CI, 1.84-8.05) for homozygous CC genotype compared with the wild TT genotype. In contrast, the C3 variants rs2230199 and rs1047286 were not associated with exudative AMD in the studied subjects. Frequencies of the risk G allele at rs2230199 and of the risk T allele at rs1047286 were 0.3% to 1.0% in both cases and controls.
The data suggest that the noncoding variant rs1410996 of the CFH gene moderately increased the risk of exudative AMD in a Chinese population. The C3 variants were rare and not associated with exudative AMD in this Chinese cohort.
研究先前报道的补体因子 H（CFH）基因非编码变异和补体成分 3（C3）基因两个编码变异是否与中国患者渗出性年龄相关性黄斑变性（AMD）有关。
招募了 150 名患有渗出性 AMD 的中国患者和 161 名无 AMD 的对照个体进行研究。从血液白细胞中提取基因组 DNA。采用聚合酶链反应（PCR）后进行等位基因特异性限制性内切酶消化和直接测序，对 CFH 基因的非编码变异（rs1410996）和 C3 基因的两个编码变异（rs2230199 和 rs1047286）进行基因分型。
rs1410996 与渗出性 AMD 显著相关。在 AMD 病例中，风险 C 等位基因在 rs1410996 的频率为 72.0%，而在对照组中为 55.6%（P < 0.001）。与野生 TT 基因型相比，杂合 TC 基因型患 AMD 的风险比为 1.71（95%置信区间[CI]，0.82-3.54），纯合 CC 基因型为 3.85（95% CI，1.84-8.05）。相比之下，在研究对象中，C3 变异 rs2230199 和 rs1047286 与渗出性 AMD 无关。rs2230199 处风险 G 等位基因和 rs1047286 处风险 T 等位基因的频率在病例和对照组中均为 0.3%至 1.0%。
数据表明，CFH 基因的非编码变异 rs1410996 在中国人群中适度增加了渗出性 AMD 的风险。在这个中国队列中，C3 变体罕见且与渗出性 AMD 无关。
