中国人群补体因子H基因单核苷酸多态性与中心性浆液性脉络膜视网膜病变的关系

IF 1.4 4区医学 Q3 OPHTHALMOLOGY

International Ophthalmology Pub Date : 2025-07-31 DOI:10.1007/s10792-025-03585-4

Dandan Linghu, Ahui Liu, Zhaojun Lin, Jinfeng Qu, Enzhong Jin, Yuou Yao, Lvzhen Huang, Mingwei Zhao

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引用次数: 0

摘要

目的：分析中华血统中枢性浆液性脉络膜视网膜病变（CSCR）与补体因子H （CFH）基因单核苷酸多态性的关系。方法：对每位患者进行6个CFH单核苷酸多态性（SNP）标记（rs800292、rs1061170、rs3753396、rs2284664、rs1329428和rs1065489）的基因分型，并评估每个SNP与CSCR的相关性。结果：从北京大学人民医院眼科纳入CSCR患者437例，对照组510例。在我们的中国人群样本中，5个snp （rs800292、rs3753396、rs2284664、rs1329428和rs1065489）与CSCR显著相关。次要等位基因rs800292 T、rs2284664 A和rs1329428 A为CSCR的危险等位基因，rs1065489 T和rs3753396 G为CSCR的保护等位基因。结论：CSCR与中国人群CFH基因的5个snp位点（rs800292、rs3753396、rs2284664、rs1329428和rs1065489）存在显著相关性。这些发现提示CFH在CSCR发病机制中的作用。进一步研究CFH如何促进CSCR，将提高我们对CSCR的理解，以及CFH作为潜在治疗靶点的认识。

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Association of central serous chorioretinopathy with single-nucleotide polymorphisms in Complement Factor H gene in a Chinese population.

Purpose: To analyze the association between central serous chorioretinopathy (CSCR) and single-nucleotide polymorphisms in the complement factor H (CFH) gene in patients of Chinese descent.

Methods: We genotyped each patient for six single-nucleotide polymorphism (SNP) markers in CFH (rs800292, rs1061170, rs3753396, rs2284664, rs1329428, and rs1065489), and assessed each SNP's associations with CSCR.

Results: 437 CSCR patients and 510 controls were enrolled from the Department of Ophthalmology, Peking University People's Hospital. In our Chinese population sample, five SNPs (rs800292 rs3753396, rs2284664, rs1329428 and rs1065489) were significantly associated with CSCR. The minor alleles rs800292 T, rs2284664 A and rs1329428 A were found as risk alleles for CSCR, rs1065489 T and rs3753396 G were found as protective alleles for CSCR.

Conclusions: Our results showed a significant association between CSCR and five SNPs (rs800292 rs3753396, rs2284664, rs1329428 and rs1065489) in the CFH gene in a Chinese population. These findings suggest a role for CFH in CSCR pathogenesis. Further investigation into how CFH contributes to CSCR will improve our understanding of CSCR, and of CFH as a potential therapeutic target.

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来源期刊

International Ophthalmology OPHTHALMOLOGY-

CiteScore

3.20

自引率

0.00%

发文量

451

期刊介绍： International Ophthalmology provides the clinician with articles on all the relevant subspecialties of ophthalmology, with a broad international scope. The emphasis is on presentation of the latest clinical research in the field. In addition, the journal includes regular sections devoted to new developments in technologies, products, and techniques.