TNFAIP3 rs6920220和DEFB1 rs1800972基因多态性对埃及白癜风患者的潜在影响

IF 0.8 Q4 GENETICS & HEREDITY

Meta Gene Pub Date : 2022-02-01 DOI:10.1016/j.mgene.2021.101002

Amany A. Saleh , Wafaa Ahmed Shehata , Huda Ibrahim Abd-Elhafiz , Shimaa E. Soliman

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引用次数: 1

摘要

背景白癜风是一种复杂的疾病，以黑色素细胞的晚期变性和丧失为特征。引起白癜风的一些主要因素是细胞毒性，自身免疫，以及一些遗传因素。目的本研究旨在评估TNFAIP3 rs6920220和DEFB1 rs1800972基因多态性与埃及患者非节段性白癜风的危险因素的关系。患者和方法本研究对125例非节段性白癜风患者和110例年龄和性别匹配的健康对照进行了研究。采用TaqMan探针实时荧光定量PCR对TNFAIP3 rs6920220和DEFB1 rs1800972多态性进行基因分型分析。结果两组患者的基因型及等位基因分布均存在显著差异。AA和GA基因型TNFAIP3 rs6920220增加白癜风风险的OR分别为4.422和1.863。与GG基因型相比，(GA + AA)模型报告的风险OR为2.016。CG、GG基因型与CC基因型相比，DEFB1 rs1800972的白癜风风险分别为OR1.7和2.865。(GG+ CG)模型OR为1.856。与对照组相比，AA基因型、TNFAIP3 rs6920220的A等位基因、GG基因型和DEFB1 rs1800972的G等位基因在病程进展和有其他自身免疫性疾病家族史的患者中更为常见。结论tnfaip3 rs6920220和DEFB1 rs1800972多态性参与白癜风发病，可能是白癜风发病的潜在危险因素。

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Potential impact of TNFAIP3 rs6920220 and DEFB1 rs1800972 gene polymorphisms on vitiligo in Egyptian patients

Background

Vitiligo is a complicated disorder identified by advanced degeneration and loss of melanocytes. Some of the main factors that cause vitiligo are cytotoxicity, autoimmunity, along with several genetic factors.

Aim

The current study aims at evaluating the association of TNFAIP3 rs6920220 and DEFB1 rs1800972 gene polymorphisms as risk factors of non-segmental vitiligo in Egyptian patients.

Patients and methods

This study was conducted on 125 patients with non-segmental vitiligo and 110 age and gender-matched healthy controls. Genotyping of TNFAIP3 rs6920220 and DEFB1 rs1800972 polymorphisms were analyzed by TaqMan probe-based real-time PCR.

Results

Significant differences in the genotypes and alleles distributions of both polymorphisms were detected between patients and controls. The AA and GA genotypes of TNFAIP3 rs6920220 increase the risk of vitiligo with OR 4.422 and 1.863 respectively. The (GA + AA) model reported risk with OR 2.016 compared to the GG genotype. The CG, GG genotypes compared to the CC genotype of DEFB1 rs1800972 were found to have an increased risk of vitiligo with OR1.7 and 2.865 respectively. The (GG+ CG) model had OR 1.856. The AA genotype, the A allele of TNFAIP3 rs6920220, the GG genotype, and the G allele of DEFB1 rs1800972 were more frequent in patients with the progressive course and those with a positive family history of other autoimmune diseases as compared to controls.

Conclusion

TNFAIP3 rs6920220 and DEFB1 rs1800972 polymorphisms could participate in the pathogenesis of vitiligo and might be considered as potential risk factors for vitiligo.

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来源期刊

Meta Gene Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

1.10

自引率

0.00%

发文量

期刊介绍： Meta Gene publishes meta-analysis, polymorphism and population study papers that are relevant to both human and non-human species. Examples include but are not limited to: (Relevant to human specimens): 1Meta-Analysis Papers - statistical reviews of the published literature of human genetic variation (typically linked to medical conditionals and/or congenital diseases) 2Genome Wide Association Studies (GWAS) - examination of large patient cohorts to identify common genetic factors that influence health and disease 3Human Genetics Papers - original studies describing new data on genetic variation in smaller patient populations 4Genetic Case Reports - short communications describing novel and in formative genetic mutations or chromosomal aberrations (e.g., probands) in very small demographic groups (e.g., family or unique ethnic group). (Relevant to non-human specimens): 1Small Genome Papers - Analysis of genetic variation in organelle genomes (e.g., mitochondrial DNA) 2Microbiota Papers - Analysis of microbiological variation through analysis of DNA sequencing in different biological environments 3Ecological Diversity Papers - Geographical distribution of genetic diversity of zoological or botanical species.