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Purpose <p>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.</p> Methods <p>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.</p> Results <p>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.</p> Conclusions <p>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.</p>

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

  • 期刊论文

  • 发表日期：

    2025年7月31日

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

摘要

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.