Ma Baofeng, Dang Guangfu, Yang Shaoyuan, Duan Lian, Zhang Yanwei
Department of Ophthalmology, Shandong Provincial Qianfoshan Hospital, Shandong University Jinan 250014, Shandong, China.
Int J Clin Exp Pathol. 2015 Aug 1;8(8):9592-6. eCollection 2015.
Age-related macular degeneration (AMD), a most common eye disease, can lead to irreversible visual impairment. Age, genetic and environmental factors have been implicated in AMD. Chemokine (C-X3-C motif) receptor 1 (CX3CR1) gene polymorphisms could influence the susceptibility of AMD.
We tested the association between AMD and single nocleotide polymorphisms (SNPs) of CX3CR1 gene (rs3732378 and rs3732379) in 102 cases and 115 controls from China. Genotypes were determined by MassArray genotyping assay method. Association between CX3CR1 gene polymorphisms and AMD were examined by χ(2) test and logistic regression.
Genotype distribution of CX3CR1 gene polymorphisms were in accordance with HWE examination. No obvious differences were observed in the genotypes of rs3732378 polymorphism between case and control groups (P>0.05), but A allele of it could increase the risk of AMD (P=0.025, OR=2.391, 95% CI=1.092-5.237). Both TT genotype and T allele of rs3732379 were significantly associated with the susceptibility of AMD (P=8.663, OR=8.663, 95% CI=1.044-71.874; P=0.021, OR=2.076, 95% CI=1.104-3.903). Age, gender and smoking status were used as common confounders to adjust the association between CX3CR1 gene polymorphism and AMD risk. Then we found that rs3732378 had no obvious association with AMD susceptibility. TT genotype of rs3732379 related to the occurrence of AMD, but the association was not significant (P=0.050, OR=8.274, 95% CI=1.002-69.963). T allele of rs3732379 might increase the susceptibility of AMD (P=0.029, OR=2.033, 95% CI=1.077-3.838).
T allele of rs3732379 might have a positive association with the susceptibility of AMD.
年龄相关性黄斑变性（AMD）是一种最常见的眼部疾病，可导致不可逆的视力损害。年龄、遗传和环境因素与AMD有关。趋化因子（C-X3-C基序）受体1（CX3CR1）基因多态性可能影响AMD的易感性。
我们检测了来自中国的102例病例和115例对照中AMD与CX3CR1基因单核苷酸多态性（SNP，rs3732378和rs3732379）之间的关联。采用MassArray基因分型检测方法确定基因型。通过χ²检验和逻辑回归分析CX3CR1基因多态性与AMD之间的关联。
CX3CR1基因多态性的基因型分布符合哈迪-温伯格平衡检验。病例组和对照组之间rs3732378多态性的基因型无明显差异（P>0.05），但其A等位基因可增加AMD的风险（P=0.025，OR=2.391，95%CI=1.092-5.237）。rs3732379的TT基因型和T等位基因均与AMD的易感性显著相关（P=8.663，OR=8.663，95%CI=1.044-71.874；P=0.021，OR=2.076，95%CI=1.104-3.903）。将年龄、性别和吸烟状况作为常见混杂因素来调整CX3CR1基因多态性与AMD风险之间的关联。然后我们发现rs3732378与AMD易感性无明显关联。rs3732379的TT基因型与AMD的发生有关，但关联不显著（P=0.050，OR=8.274，95%CI=1.002-69.963）。rs3732379的T等位基因可能增加AMD的易感性（P=0.029，OR=2.033，95%CI=1.077-3.838）。
rs3732379的T等位基因可能与AMD的易感性呈正相关。
