伊朗人群中XRCC1基因Arg399Gln和Arg194Trp多态性与系统性红斑狼疮风险：一项初步研究
XRCC1 Arg399Gln and Arg194Trp polymorphisms and risk of systemic lupus erythematosus in an Iranian population: a pilot study.
作者信息
Salimi Saeedeh, Mohammadoo-Khorasani Milad, Tabatabai Ehsan, Sandoughi Mahnaz, Zakeri Zahra, Naghavi Anoosh
机构信息
Cellular and Molecular Research Center, Zahedan University of Medical Sciences, Zahedan, Iran ; Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran.
Department of Internal Medicine, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran.
出版信息
Biomed Res Int. 2014;2014:492956. doi: 10.1155/2014/492956. Epub 2014 May 26.
BACKGROUND
Evidences are suggesting that DNA damage is implicated in development of systemic lupus erythematosus (SLE). Therefore we focused on two common XRCC1 polymorphisms (Arg399Gln and Arg194Trp) in SLE susceptibility in South East of Iran.
METHODS
Peripheral blood DNA was extracted from 163 SLE patients and 180 healthy controls. PCR-restriction fragment length polymorphism method was used for genotyping of XRCC1 Arg399Gln and Arg194Trp polymorphisms.
RESULTS
The frequency of Arg/Gln genotype of the XRCC1 Arg399Gln polymorphism was significantly lower in SLE patients than controls. Moreover, lower frequency of Arg/Gln genotype was found in SLE patients with malar rash compared to patients without this manifestation. No association was observed between XRCC1 Arg194Trp polymorphism and increased risk of SLE in studied population. Haplotype analysis revealed no correlation between four haplotypes of XRCC1 Arg399Gln and Arg194Trp polymorphisms and SLE risk.
CONCLUSION
These findings suggest that XRCC1 399 Arg/Gln heterozygous genotype plays a protective role in SLE susceptibility.
背景
有证据表明DNA损伤与系统性红斑狼疮（SLE）的发病有关。因此，我们聚焦于伊朗东南部SLE易感性中两种常见的XRCC1基因多态性（Arg399Gln和Arg194Trp）。
方法
从163例SLE患者和180例健康对照者中提取外周血DNA。采用聚合酶链反应-限制性片段长度多态性方法对XRCC1 Arg399Gln和Arg194Trp基因多态性进行基因分型。
结果
SLE患者中XRCC1 Arg399Gln基因多态性的Arg/Gln基因型频率显著低于对照组。此外，与无颧部皮疹的SLE患者相比，有颧部皮疹的患者中Arg/Gln基因型频率更低。在所研究人群中，未观察到XRCC1 Arg194Trp基因多态性与SLE风险增加之间存在关联。单倍型分析显示，XRCC1 Arg399Gln和Arg194Trp基因多态性的四种单倍型与SLE风险之间无相关性。
结论
这些发现表明，XRCC1 399 Arg/Gln杂合基因型在SLE易感性中起保护作用。
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