土耳其假性剥脱综合征和假性剥脱性青光眼患者中“……”的三个单核苷酸多态性。（原文中‘ 里内容缺失）

Three Single Nucleotide Polymorphisms of ' in a Turkish Population with Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma.

作者信息

Yaz Yetkin, Yıldırım Nilgün, Aydın Yaz Yasemin, Çilingir Oğuz, Yüksel Zafer, Mutlu Fezan

机构信息

Eskişehir Yunus Emre State Hospital, Ophthalmology Clinic, Eskişehir, Turkey.

Eskişehir Osmangazi University Faculty of Medicine, Department of Ophthalmology, Eskişehir, Turkey.

出版信息

Turk J Ophthalmol. 2018 Oct;48(5):215-220. doi: 10.4274/tjo.83797. Epub 2018 Oct 31.

DOI:10.4274/tjo.83797

PMID:30405941

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6216538/

Abstract

OBJECTIVES

To investigate the three single nucleotide polymorphisms (SNPs) (rs3825942, rs1048661, and rs2165241) of the gene in pseudoexfoliation syndrome (XFS) and pseudoexfoliation glucoma (XFG) in the Turkish population.

MATERIALS AND METHODS

DNA was obtained from blood samples of 48 XFS, 58 XFG, and 171 control subjects. Three SNPs (rs3825942, rs1048661, rs2165241) were investigated with real time PCR, a probe-based genotyping method, and melting curve analysis.

RESULTS

All three SNPs of were significantly associated with XFS (rs3825942 p=3.54x10, odds ratio [OR]=∞; rs1048661 p=0.008, OR=2.18; rs2165241 p=8.69x10, OR=4.30) and XFG (rs3825942 p=3.41x10, OR=∞; rs1048661 p=1.75x10, OR=3.78; rs2165241 p=3.85x10 OR=4.90). No significant differences were observed between the XFS and XFG groups for any of the SNPs. The GG genotype of rs3825942 was more valuable for distinguishing pseudoexfoliative cases from healthy individuals. The homozygous TT genotype of rs2165241 was associated with 6-fold increased XFS risk (p=8.15x10, OR=6.32) and 7-fold increased XFG risk (p=1.45x10 OR=7.95). The GGT haplotype consisting of all three risk alleles was associated with a 7.45-fold higher risk of XFS/XFG (p=8.65x10, OR=7.45). Presence of T allele of rs2165241 conferred 3 times higher risk for men than women (p=6.78x10, OR=3.202).

CONCLUSION

SNPs are associated with increased risk for pseudoexfoliation in the Turkish population. T allele of rs2165241 was found to be the most important characterized risk factor for our cohort. All SNP distributions were similar to other European and American populations.

摘要

目的

研究土耳其人群中假性剥脱综合征（XFS）和假性剥脱性青光眼（XFG）患者中某基因的三个单核苷酸多态性（SNP）（rs3825942、rs1048661和rs2165241）。

材料与方法

从48例XFS患者、58例XFG患者和171例对照者的血液样本中提取DNA。采用实时PCR、基于探针的基因分型方法和熔解曲线分析对三个SNP（rs3825942、rs1048661、rs2165241）进行研究。

结果

该基因的所有三个SNP均与XFS（rs3825942 p = 3.54×10，优势比[OR]=∞；rs1048661 p = 0.008，OR = 2.18；rs2165241 p = 8.69×10，OR = 4.30）和XFG（rs3825942 p = 3.41×10，OR = ∞；rs1048661 p = 1.75×10，OR = 3.78；rs2165241 p = 3.85×10，OR = 4.90）显著相关。在任何一个SNP上，XFS组和XFG组之间均未观察到显著差异。rs3825942的GG基因型在区分假性剥脱病例与健康个体方面更具价值。rs2165241的纯合TT基因型与XFS风险增加6倍（p = 8.15×10，OR = 6.32）和XFG风险增加7倍（p = 1.45×10，OR = 7.95）相关。由所有三个风险等位基因组成的GGT单倍型与XFS/XFG风险高7.45倍相关（p = 8.65×10，OR = 7.45）。rs2165241的T等位基因在男性中的风险是女性的3倍（p = 6.78×10，OR = 3.202）。