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与西班牙人群渗出性年龄相关性黄斑变性风险增加相关的基因多态性。

Gene polymorphisms associated with an increased risk of exudative age-related macular degeneration in a Spanish population.

机构信息

Unit of Ophthalmology, Hospital Universitario Fundación Alcorcón, Madrid, Spain.

Research Support Laboratory, Hospital Universitario Fundación Alcorcón, Madrid, Spain.

出版信息

Eur J Ophthalmol. 2022 Jan;32(1):651-657. doi: 10.1177/11206721211002698. Epub 2021 Mar 25.

DOI:10.1177/11206721211002698
PMID:33765843
Abstract

PURPOSE

To identify the association between single-nucleotide polymorphisms (SNPs) in , and genes and exudative age-related macular degeneration (AMD) in a Spanish population.

METHODS

In 187 exudative AMD patients and 196 healthy controls (61% women, mean age 75 years), 12 SNPs as risk factors for AMD in (rs1410996, rs1061170, r380390), ARMS2 (rs10490924, rs10490923), (rs11200638), (rs641153), (rs547154, rs9332739), and (rs147859257, rs2230199, rs1047286) genes were analyzed.

RESULTS

The G allele was the most frequent in CFH gene (rs1410996) with a 7-fold increased risk of AMD (OR 7.69, 95% CI 3.17-18.69), whereas carriers of C allele in (rs1061170) showed a 3-fold increased risk for AMD (OR 3.22, 95% CI 1.93-5.40). In (rs380390), the presence of G allele increased the risk for AMD by 2-fold (OR 2.52, 95% CI 1.47-4.30). In (rs10490924), the T-allele was associated with an almost 5-fold increased risk (OR 5.49, 95% CI 3.23-9.31). The A allele in (rs11200638) was more prevalent in AMD versus controls (OR 6.44, 95% CI 3.62-11.47). In gene (rs9332739) the presence of C increased risk for AMD by 3-fold (OR 3.10, 95% CI 1.06-9.06).

CONCLUSION

SNPs in , and genes were associated in our study with an increased risk for exudative AMD in Spanish patients.

摘要

目的

在西班牙人群中,鉴定 基因和 基因中的单核苷酸多态性(SNPs)与渗出性年龄相关性黄斑变性(AMD)之间的关联。

方法

在 187 名渗出性 AMD 患者和 196 名健康对照者(61%为女性,平均年龄 75 岁)中,分析了 12 个与 AMD 相关的风险因素 SNPs,分别位于 (rs1410996、rs1061170、r380390)、ARMS2(rs10490924、rs10490923)、 (rs11200638)、 (rs641153)、 (rs547154、rs9332739)和 (rs147859257、rs2230199、rs1047286)基因中。

结果

CFH 基因(rs1410996)中 G 等位基因最为常见,AMD 的风险增加了 7 倍(OR 7.69,95%CI 3.17-18.69),而 (rs1061170)中 C 等位基因的携带者 AMD 的风险增加了 3 倍(OR 3.22,95%CI 1.93-5.40)。在 (rs380390)中,G 等位基因使 AMD 的风险增加了 2 倍(OR 2.52,95%CI 1.47-4.30)。在 (rs10490924)中,T 等位基因与几乎 5 倍的风险增加相关(OR 5.49,95%CI 3.23-9.31)。与对照组相比, (rs11200638)中 A 等位基因在 AMD 中更为常见(OR 6.44,95%CI 3.62-11.47)。在 基因(rs9332739)中,C 等位基因的存在使 AMD 的风险增加了 3 倍(OR 3.10,95%CI 1.06-9.06)。

结论

本研究中, 基因和 基因中的 SNPs 与西班牙渗出性 AMD 患者的风险增加相关。

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