Association of polymorphisms of complement factor I rs141853578 (G119R) with age-related macular degeneration in Iranian population
Association of polymorphisms of complement factor I rs141853578 (G119R) with age-related macular degeneration in Iranian population
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DOI：
10.1007/s10792-018-0835-0
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发表时间：
2019-03-01
影响因子：
1.6
通讯作者：
Soheilian, Masoud
中科院分区：
文献类型：
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作者：
Bonyadi, Mortaza;Norouzi, Neda;Soheilian, Masoud
年龄相关性黄斑变性（AMD）是一种复杂的疾病，近年来的研究表明补体系统基因在其发病过程中起着重要作用。补体因子I调节补体通路，CFI多态性与AMD之间的关系存在争议。我们评估了补体因子I rs141853578 （G119R）变异与伊朗晚期AMD患者的可能关联。材料和方法我们纳入了371例病例对照样本，其中包括220例晚期AMD患者和151例遗传无关的健康对照。提取的DNA样本扩增得到包含多态补体因子I rs141853578 （G119R）区域的片段。结果AMD患者的基因型分布与对照组有显著性差异（p=0.035）。AMD组CFI的TT基因型频率显著高于AMD组（7.7 vs. 2%, OR 4.67, CI 1.33-16.45, p=0.016）。在调整了年龄和性别的影响后，这一显著差异仍然存在（OR 5.09, CI 1.42-18.20, p=0.012）。AMD患者的次要等位基因频率（T等位基因）也显著高于对照组（29.3比21.5% OR 1.51, CI 1.07-2.13, p=0.018）。结论CFI rs141853578 （G119R）是晚期AMD发生的危险因素。该研究还表明，我们的人群中G119R多态性的频率并不像其他人群中报道的那样罕见。
Background Age-related macular degeneration (AMD) is a complex disease, and recent studies have shown role of complement system genes in its development. Complement factor I regulates the complement pathways, and relationship between CFI polymorphisms and AMD is controversial. We evaluated the possible association of complement factor I rs141853578 (G119R) variation with advanced AMD in Iranian patients.Materials and methodsWe included 371 case-control samples consisting of 220 advanced AMD patients and 151 genetically unrelated healthy controls. Extracted DNA samples amplified to obtain fragment including the polymorphic complement factor I rs141853578 (G119R) region.ResultsThe distribution of the genotypes was significantly different in the AMD patients compared to that of controls (p=0.035). The TT genotype frequencies for CFI were significantly higher in AMD group (7.7 vs. 2%, OR 4.67, CI 1.33-16.45, p=0.016). This significant difference was maintained after adjustment for the effects of age and gender (OR 5.09, CI 1.42-18.20, p=0.012). The minor allele frequency (T allele) was also significantly higher in AMD patients compared to that of controls (29.3 vs. 21.5% OR 1.51, CI 1.07-2.13, p=0.018).ConclusionCurrent study showed that CFI rs141853578 (G119R) is a risk factor for developing advanced type AMD. This study also suggests that the frequency of G119R polymorphism in our population is not as rare as reported from other populations.