Association of CFH Y402H Polymorphism with Both Forms of Advanced Age-Related Macular Degeneration in Turkish Patients
Association of CFH Y402H Polymorphism with Both Forms of Advanced Age-Related Macular Degeneration in Turkish Patients
复制标题
DOI：
10.3109/13816810.2012.660225
复制
发表时间：
2012-07
影响因子：
1.2
通讯作者：
D. Yücel;M. Yılmaz;A. Durukan;R. Özgül
中科院分区：
文献类型：
--
作者：
D. Yücel;M. Yılmaz;A. Durukan;R. Özgül
目的：研究土耳其人群中补体因子H Y402H基因多态性与老年性黄斑变性(AMD)发病的关系。方法：采用聚合酶链式反应-限制性内切酶-直接测序法对182例老年黄斑变性患者进行基因分型，其中老年黄斑变性患者95例，正常对照组87例。采用R 2.9.2统计软件和epicalc软件包进行统计分析。结果：在本研究人群中发现CFH基因Y402H变异与晚期AMD相关。携带危险等位基因C的杂合子在所有患者和对照组中的频率有很大差异(患者组70.5%，对照组54.02%，χ2=5.285，D.F.=1，p=0.02)。当所有AMD患者与健康对照组比较时，TC杂合子显著增加AMD的风险(OR=2.32，CI%1.23~4.35)。结论ıOn：本研究提示，在土耳其患者中，CFHY402H基因多态与两种类型的终末期AMD的风险增加相关。
Purpose: The purpose of this study was to investigate the association between complement factor H Y402H polymorphism and age-related macular degeneration (AMD) development in a cohort of Turkish patients. Methods: A total of 182 individuals, including 95 individuals with unrelated late age-related macular degeneration and 87 age-matched healthy individuals as a control group were genotyped with polymerase chain reaction followed by restriction enzyme digestion and direct sequence analysis. The statistical analysis was performed with statistical software R 2.9.2 and epicalc package. Results: The Y402H variant in the CFH gene was found to be associated with late AMD in our study population. Genotypic frequencies were highly different between all patients and control individuals compared for the heterozygotes carrying the risk allele C (AMD patients (CT) 70.5%, control individuals (CT) 54.02%; χ2= 5.285, d.f. = 1, p = 0.02). When all AMD patients were compared with the healthy control group, TC heterozygotes showed a significantly increased risk of AMD (O.R = 2.32, CI% 1.23–4.35). Conclusıon: This study suggests that the CFH Y402H polymorphism is associated with increased risk for both types of end-stage AMD in Turkish patients.