希腊西南部患有假性剥脱综合征的白内障人群中赖氨酰氧化酶样 1 基因多态性

Lysyl oxidase-like 1 polymorphisms in a southwestern Greek cataract population with pseudoexfoliation syndrome.

作者信息

Panoutsopoulos Alexios A, Gartaganis Vassiliki S, Giannakopoulos Marios P, Goumas Panos D, Anastassiou Evangelos D, Gartaganis Sotirios P

机构信息

Department of Ophthalmology, School of Medicine, University of Patras, Achaia, Greece.

Protein Chemistry Group, Institute of Molecular Oncology, BSRC "Al Fleming", Vari, Greece.

出版信息

Clin Ophthalmol. 2016 Jan 21;10:161-6. doi: 10.2147/OPTH.S90789. eCollection 2016.

DOI:10.2147/OPTH.S90789

PMID:26855560

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4725688/

Abstract

PURPOSE

The aim of this study was to determine the possible association of rs1048661 and rs3825942 single nucleotide polymorphisms (SNPs) in the lysyl oxidase-like 1 (LOXL1) gene of cataract patients from southwestern Greece with pseudoexfoliation (PEX) syndrome.

PATIENTS AND METHODS

Ninety-three patients with PEX syndrome and 74 without PEX syndrome were recruited with the principal diagnosis being cataract. LOXL1 SNPs, rs1048661 and rs3825942, were genotyped by using polymerase chain reaction.

RESULTS

The G allele of rs1048661 was found in 96.7% in the PEX group as compared to 80.5% of non-PEX alleles (P=19×10(-4); Odds ratio [OR] =5.37; 95% confidence interval [CI] =1.68-17.12). Similarly, the G allele of rs3825942 was found in 72.1% of the PEX group as compared to 41.8% of non-PEX alleles (P=4×10(-5); OR =3.78; 95% CI =1.98-7.23). The T and A allele frequencies of rs1048661 and rs3825942, respectively, were underrepresented in the PEX group patients as compared to non-PEX group.

CONCLUSION

Our data confirm previously reported association between LOXL1 polymorphisms and PEX syndrome in a southwestern Greek population. A significant association was found for the G allele of rs1048661 and rs3825942 demonstrating that the GG haplotype is a high-risk factor for the development of PEX syndrome.

摘要

目的

本研究旨在确定希腊西南部患有假性剥脱（PEX）综合征的白内障患者赖氨酰氧化酶样1（LOXL1）基因中的rs1048661和rs3825942单核苷酸多态性（SNP）之间可能存在的关联。

患者与方法

招募了93例患有PEX综合征的患者和74例无PEX综合征的患者，主要诊断均为白内障。采用聚合酶链反应对LOXL1基因的SNP rs1048661和rs3825942进行基因分型。

结果

rs1048661的G等位基因在PEX组中的比例为96.7%，而非PEX等位基因的比例为80.5%（P = 19×10⁻⁴；优势比[OR] = 5.37；95%置信区间[CI] = 1.68 - 17.12）。同样地，rs3825942的G等位基因在PEX组中的比例为72.1%，而非PEX等位基因的比例为41.8%（P = 4×10⁻⁵；OR = 3.78；95% CI = 1.98 - 7.23）。与非PEX组相比，rs1048661的T等位基因频率和rs3825942的A等位基因频率在PEX组患者中均较低。