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伊朗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相关性。

Association of central serous chorioretinopathy with single nucleotide polymorphisms in complement factor H gene in Iranian population.

机构信息

Department of Vitreoretinal Surgery, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran.

Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.

出版信息

Eye (Lond). 2022 May;36(5):1061-1065. doi: 10.1038/s41433-021-01579-x. Epub 2021 May 11.

DOI:10.1038/s41433-021-01579-x
PMID:33976403
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9046259/
Abstract

OBJECTIVES

To investigate the association of two different single nucleotide polymorphisms (SNPs) in the complement factor H (CFH) gene with central serous chorioretinopathy (CSCR) in the Iranian population.

METHODS

This is a case-control study with 95 participants in each group who were stratified according to their various ethnical variations. Primers for rs1329428 and rs3753394 polymorphisms were synthesized. DNA was extracted from peripheral blood leukocytes and underwent PCR and high-resolution melt analysis.

RESULTS

The frequency of tt, ct, and cc genotypes for rs1329428 polymorphism was 22 (26.5%), 46 (55.4%), and 15 (18.1%) in acute CSCR and 5 (41.7%), 5 (41.7%), and 2 (16.7%) in chronic CSCR respectively with no significant difference between case and control groups. The frequency of tt, ct, and cc genotypes for rs3753394 polymorphism was 31 (37.3%), 14 (16.9%), and 38 (45.8%) in acute CSCR and 4 (33.3%), 3 (25%), and 5 (41.7%) in chronic CSCR respectively. There was a significant difference between patients of Persian descent and controls in rs3753394 polymorphism (P = 0.00, chi-square test). There was no statistical difference in the frequency of polymorphism between acute and chronic patients (P = 0.64 and P = 0.79 respectively, chi-square test).

CONCLUSIONS

The rs3753394 polymorphism is probably associated with CSCR in Persian ethnicity. Further studies are required to validate the implications of this finding in clinical practice.

摘要

目的

研究补体因子 H (CFH) 基因中的两个不同单核苷酸多态性 (SNP) 与伊朗人群中心性浆液性脉络膜视网膜病变 (CSCR) 的关系。

方法

这是一项病例对照研究,每组有 95 名参与者,根据他们的不同种族差异进行分层。合成了 rs1329428 和 rs3753394 多态性的引物。从外周血白细胞中提取 DNA,并进行 PCR 和高分辨率熔解分析。

结果

rs1329428 多态性的 tt、ct 和 cc 基因型在急性 CSCR 中的频率分别为 22 (26.5%)、46 (55.4%)和 15 (18.1%),而在慢性 CSCR 中分别为 5 (41.7%)、5 (41.7%)和 2 (16.7%),病例组和对照组之间无显著差异。rs3753394 多态性的 tt、ct 和 cc 基因型在急性 CSCR 中的频率分别为 31 (37.3%)、14 (16.9%)和 38 (45.8%),而在慢性 CSCR 中分别为 4 (33.3%)、3 (25%)和 5 (41.7%)。rs3753394 多态性在波斯裔患者和对照组之间存在显著差异 (P=0.00,卡方检验)。急性和慢性患者之间多态性的频率无统计学差异 (P=0.64 和 P=0.79,卡方检验)。

结论

rs3753394 多态性可能与波斯族群的 CSCR 有关。需要进一步的研究来验证这一发现对临床实践的影响。

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