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[Nrf2启动子区域单核苷酸多态性与白癜风易感性的关联]

[Association of single nucleotide polymorphisms of Nrf2 promoter region with susceptibility to vitiligo].

作者信息

Zhou Miao-Ni, Xu Ai-E, Lu Liang-Jun, Li Yong-Wei, Zhao De-Kuang, Guan Cui-Ping

机构信息

Department of Dermatology, Third People's Hospital of Hangzhou, Hangzhou 310009, China.

出版信息

Zhonghua Yi Xue Za Zhi. 2008 Apr 8;88(14):969-72.

Abstract

OBJECTIVE

To investigate the association of the single nucleotide polymorphisms (SNPs) in Nrf2 promoter region with the susceptibility to risk of vitiligo.

METHODS

Samples of peripheral blood were collected from 300 vitiligo patients and 300 healthy persons. The genotypes of -686A/G, -684G/A, and -650C/A were detected by direct-sequencing. Genotyping of variable number of tandem repeat (VNTR) was performed by gene scan analysis with an ABI 310 Sequencer. Genetic and allelic frequencies were analyzed by Chi-square test and the risk was evaluated by calculating OR and 95% CI.

RESULTS

There was statistical significant difference in genotypic and allelic frequencies of -650C/A between the vitiligo group and healthy control group (P < 0.05), and A -650 allele was associated with risk for vitiligo statistically significantly (OR = 1.724, 95% CI: 1.345-2.211, chi2 = 18.096, P < 0.01). Homozygote of A allele increased the risk for vitiligo obviously (OR = 2.902, 95% CI: 1.624-5.188, P < 0.01). No significant difference was found in other three polymorphisms between the two groups.

CONCLUSION

polymorphism of Nrf2 promoter region -650C/A was associated with the development of vitiligo and A -650 allele may be one of risk factors for vitiligo.

摘要

目的

探讨核因子E2相关因子2(Nrf2)启动子区域单核苷酸多态性(SNP)与白癜风易感性的关系。

方法

收集300例白癜风患者和300例健康人的外周血样本。采用直接测序法检测-686A/G、-684G/A和-650C/A的基因型。使用ABI 310测序仪通过基因扫描分析对可变数目串联重复序列(VNTR)进行基因分型。采用卡方检验分析基因频率和等位基因频率,并通过计算比值比(OR)和95%可信区间(CI)评估风险。

结果

白癜风组与健康对照组-650C/A的基因型频率和等位基因频率差异有统计学意义(P<0.05),-650A等位基因与白癜风风险的相关性有统计学意义(OR=1.724,95%CI:1.345-2.211,χ2=18.096,P<0.01)。A等位基因纯合子显著增加白癜风风险(OR=2.902,95%CI:1.624-5.188,P<0.01)。两组间其他三种多态性无显著差异。

结论

Nrf2启动子区域-650C/A多态性与白癜风的发生有关,-650A等位基因可能是白癜风的危险因素之一。

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