Popp Nicholas A, Agrón Elvira, Hageman Gregory S, Tuo Jingsheng, Chew Emily Y, Chan Chi-Chao
a Immunopathology Section, Laboratory of Immunology , National Eye Institute, National Institutes of Health , Bethesda , Maryland , USA.
b Division of Epidemiology and Clinical Applications , National Eye Institute, National Institutes of Health , Bethesda , Maryland , USA.
Curr Eye Res. 2017 Mar;42(3):470-475. doi: 10.1080/02713683.2016.1196708. Epub 2016 Jul 15.
Since some studies have reported differences in the association of age-related macular degeneration (AMD) with biological sex, we set out to determine whether the difference in the disease susceptibility is afforded by common single nucleotide polymorphisms (SNPs) associated with AMD.
We genotyped 2067 Caucasian subjects from the Age-Related Eye Disease Study cohort for commonly associated AMD SNPs, including those in CFH (rs1061170, rs1410996, and rs3766404), ARMS2 (rs10490924), and C3 (rs2230199) using either a Sequenom MassARRAY MALDI-TOF mass spectrometer or using Taqman genotyping reagents. A Cox proportional hazards model was used to determine the effect of genotype, age, sex, and smoking status on the development of AMD.
All tested SNPs genotyped are associated strongly with AMD (p < 0.0001), in concordance with previous studies. However, we found no observable differences in any of the SNPs studied when categorized by sex. Interactions between SNPs and sex were found to be not statistically significant (p = 0.38-0.79).
The difference between male and female incidence of AMD is not explained by the most commonly AMD-associated SNPs, though it does not exclude the possibility that other, less common SNPs contribute to this difference.
由于一些研究报告了年龄相关性黄斑变性（AMD）与生物性别的关联存在差异，我们着手确定疾病易感性的差异是否由与AMD相关的常见单核苷酸多态性（SNP）所致。
我们使用Sequenom MassARRAY MALDI-TOF质谱仪或Taqman基因分型试剂，对年龄相关性眼病研究队列中的2067名白种人受试者进行了常见的AMD相关SNP基因分型，包括CFH（rs1061170、rs1410996和rs3766404）、ARMS2（rs10490924）和C3（rs2230199）中的SNP。使用Cox比例风险模型来确定基因型、年龄、性别和吸烟状态对AMD发生发展的影响。
与先前研究一致，所有检测的基因分型SNP均与AMD密切相关（p < 0.0001）。然而，按性别分类时，我们在所研究的任何SNP中均未发现可观察到的差异。SNP与性别之间的相互作用在统计学上无显著意义（p = 0.38 - 0.79）。
AMD的男性和女性发病率差异不能用最常见的AMD相关SNP来解释，尽管这并不排除其他不太常见的SNP导致这种差异 的可能性。
