Hirata Fabio Endo, de Vasconcellos José Paulo Cabral, Medina Flávio MacCord, Rim Priscila Hae Hyun, Fulco Enzo Augusto Medeiros, de Melo Mônica Barbosa
a Department of Ophthalmology, Faculty of Medical Sciences , University of Campinas - UNICAMP , Campinas , SP , Brazil and.
Ophthalmic Genet. 2015;36(3):224-8. doi: 10.3109/13816810.2013.867449.
An association between LOC387715/ARMS2 (rs10490924) gene polymorphism and AMD has been reported. The aim of this study was to evaluate whether this polymorphism is associated with AMD in a Brazilian cohort.
In total, 126 unrelated AMD patients (mean age 74.17 ± 7.64) were compared with 86 healthy controls (mean age 71.82 ± 7.12). Study subjects were classified according to the International ARM Epidemiological Study Group definition for early and late-stage AMD. LOC387715/ARMS2 rs10490924 polymorphism was evaluated through polymerase chain reaction and direct sequencing.
The T allele frequency was significantly higher in AMD patients than in controls (39.6% compared to 20.3%). The odds ratio (OR) for AMD was 2.05 (95% CI 1.13-3.71) for heterozygotes (TG) and 8.32 (95% CI 2.30-45.99) for homozygotes (TT).
These results suggest that there is a contribution of the rs10490924 SNP of the LOC387715/ARMS2 gene to AMD susceptibility in this sample of the Brazilian population.
已有报道称LOC387715/ARMS2（rs10490924）基因多态性与年龄相关性黄斑变性（AMD）有关。本研究的目的是评估这种多态性在巴西人群队列中是否与AMD相关。
总共将126例无亲缘关系的AMD患者（平均年龄74.17±7.64岁）与86例健康对照者（平均年龄71.82±7.12岁）进行比较。研究对象根据国际年龄相关性黄斑变性流行病学研究组对早期和晚期AMD的定义进行分类。通过聚合酶链反应和直接测序评估LOC387715/ARMS2 rs10490924基因多态性。
AMD患者中T等位基因频率显著高于对照组（分别为39.6%和20.3%）。杂合子（TG）患AMD的优势比（OR）为2.05（95%可信区间1.13 - 3.71），纯合子（TT）为8.32（95%可信区间2.30 - 45.99）。
这些结果表明，在这个巴西人群样本中，LOC387715/ARMS2基因的rs10490924单核苷酸多态性对AMD易感性有影响。
