中国人群中中心性浆液性脉络膜视网膜病变与补体因子H基因单核苷酸多态性的关联
Association of central serous chorioretinopathy with single-nucleotide polymorphisms in Complement Factor H gene in a Chinese population.
作者信息
Linghu Dandan, Liu Ahui, Lin Zhaojun, Qu Jinfeng, Jin Enzhong, Yao Yuou, Huang Lvzhen, Zhao Mingwei
机构信息
Department of Ophthalmology, People's Hospital of Peking University, No.11 Xizhimen South Street, Xicheng District, Beijing, China.
Key Laboratory of Vision Loss and Restoration, Ministry of Education, Beijing, China.
出版信息
Int Ophthalmol. 2025 Jul 31;45(1):320. doi: 10.1007/s10792-025-03585-4.
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.
目的
分析中国汉族患者中心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之间的关联。
方法
我们对每位患者的CFH基因中的六个单核苷酸多态性（SNP）标记（rs800292、rs1061170、rs3753396、rs2284664、rs1329428和rs1065489）进行基因分型，并评估每个SNP与CSCR的关联。
结果
从北京大学人民医院眼科招募了437例CSCR患者和510例对照。在我们的中国人群样本中，五个SNP（rs800292、rs3753396、rs2284664、rs1329428和rs1065489）与CSCR显著相关。发现次要等位基因rs800292 T、rs2284664 A和rs1329428 A是CSCR的风险等位基因，rs1065489 T和rs3753396 G是CSCR的保护等位基因。
结论
我们的结果显示中国人群中CSCR与CFH基因中的五个SNP（rs800292、rs3753396、rs2284664、rs1329428和rs1065489）之间存在显著关联。这些发现提示CFH在CSCR发病机制中起作用。进一步研究CFH如何导致CSCR将增进我们对CSCR的理解，以及对CFH作为潜在治疗靶点的理解。
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