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IFIH1 基因 rs1990760 和 rs2111485 单核苷酸多态性在泛发性白癜风易感性中的作用。

The role of IFIH1 gene rs1990760 and rs2111485 single-nucleotide polymorphisms in generalized vitiligo predisposition.

出版信息

Turk J Med Sci. 2019 Feb 11;49(1):206-211. doi: 10.3906/sag-1808-63.

Abstract

BACKGROUND/AIM: Interferon-induced helicase (IFIH1) is a gene locus that has been recently defined as a candidate for susceptibility to generalized vitiligo (GV). The objectives of this study were to assess the association of IFIH1 gene, rs2111485, and rs1990760 single-nucleotide polymorphisms (SNP) with susceptibility to GV and the autoimmune diseases accompanying GV.

MATERIALS AND METHODS

We prospectively studied GV patients and frequency-matched healthy controls by age and sex. The genotypes of the participants were determined for rs1990760 and rs2111485 SNPs of IFIH1. Dominant, recessive, and additive models were evaluated for each SNP adjusted for age and sex.

RESULTS

The patients and their controls were observed to be in the Hardy–Weinberg equilibrium for SNP1 (2q24.2, rs1990760, IFIH1, T/C) and SNP2 (2q24.2, rs2111485, IFIH1, G/A), respectively (all P > 0.7). For SNP1, every T allel addition was significantly associated with 1.53 times protectiveness in terms of vitiligo risk (P = 0.033). As for SNP2, every G allel addition was associated with 1.42 times protectiveness, close to statistical significance (P = 0.100).

CONCLUSIONS

We detected that for SNP1, each T allel and for SNP2, each G allel are protective in terms of vitiligo development. Hereby, we confirmed that IFIH1 gene locus has a role in GV susceptibility.

摘要

背景/目的:干扰素诱导的解旋酶(IFIH1)是一个最近被定义为易患泛发性白癜风(GV)的候选基因座。本研究的目的是评估 IFIH1 基因、rs2111485 和 rs1990760 单核苷酸多态性(SNP)与 GV 易感性以及与 GV 伴随的自身免疫性疾病的相关性。

材料和方法

我们通过年龄和性别前瞻性地研究了 GV 患者和频率匹配的健康对照者。确定了参与者 rs1990760 和 rs2111485 单核苷酸多态性的基因型。在调整年龄和性别后,评估了每个 SNP 的显性、隐性和加性模型。

结果

观察到 SNP1(2q24.2,rs1990760,IFIH1,T/C)和 SNP2(2q24.2,rs2111485,IFIH1,G/A)的患者及其对照者均处于 Hardy-Weinberg 平衡(均 P>0.7)。对于 SNP1,每个 T 等位基因的添加与白癜风风险的 1.53 倍保护作用显著相关(P=0.033)。对于 SNP2,每个 G 等位基因的添加与 1.42 倍的保护作用相关,接近统计学意义(P=0.100)。

结论

我们发现对于 SNP1,每个 T 等位基因,对于 SNP2,每个 G 等位基因,在白癜风的发展方面都是保护性的。由此,我们证实 IFIH1 基因座在 GV 易感性方面具有作用。

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Genetics of Vitiligo.白癜风的遗传学
Dermatol Clin. 2017 Apr;35(2):245-255. doi: 10.1016/j.det.2016.11.013.
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Current aspects of vitiligo genetics.白癜风遗传学的当前研究方向。
Postepy Dermatol Alergol. 2014 Aug;31(4):247-55. doi: 10.5114/pdia.2014.43497. Epub 2014 Aug 22.
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Innate immune mechanisms in vitiligo: danger from within.先天性免疫机制在白癜风中的作用:来自内部的危险。
Curr Opin Immunol. 2013 Dec;25(6):676-82. doi: 10.1016/j.coi.2013.10.010. Epub 2013 Nov 12.

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