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内质网氨肽酶 2 基因单核苷酸多态性与埃及人银屑病和银屑病关节炎风险的关联。

The association between endoplasmic reticulum aminopeptidase 2 gene single nucleotide polymorphisms and the risk of psoriasis and psoriatic arthritis in Egyptians.

机构信息

Department of Medical Biochemistry and Molecular Biology, Faculty of Medicine, Menoufia University, Yassen Abd Al Ghafar Street, Shebin El-Kom City, Menoufia governorate, 32511, Egypt.

Faculty of Science, Al-Azhar University, Cairo, Egypt.

出版信息

Mol Biol Rep. 2024 Jul 24;51(1):847. doi: 10.1007/s11033-024-09733-w.

Abstract

BACKGROUND

Psoriasis (Ps) is a disorder attributed to the immune system that involves inflammation of the skin and joints. Psoriasis is a multifactorial disorder in which genetic factors represent about 70% of the disease risk. This study aims to establish the correlation between the ERAP2 gene's single nucleotide polymorphisms (SNPs) rs2910686 and rs2248374 with the susceptibility to Ps and/or psoriatic arthritis (PsA) among the Egyptian population.

METHODS AND RESULTS

Genotyping of ERAP2 gene SNPs (rs2910686 and rs2248374) in 120 psoriatic patients with and without arthritis and 100 controls was done using real-time PCR. The genotype frequency and distribution of the ERAP2 SNP (rs2910686 and rs2248374) were in Hardy-Weinberg equilibrium (HWE). For rs2910686, the TC and CC genotypes and C allele frequency were significant risk factors for PsA compared to the controls (OR = 5.708, OR = 10.165, and OR = 4.282, respectively). They also were significant risk factors for Ps compared to the controls (OR = 5.165, OR = 5.040, and OR = 3.258, respectively). For rs2248374, the AG genotype significantly increased the risk of PsA (OR = 2.605) and Ps (OR = 3.768) compared to controls. The AG genotype was significantly related to the risk of Ps (OR = 3.369) G allele with PsA (OR = 1.608) and Ps (OR = 1.965) compared to controls.

CONCLUSION

In Egyptian individuals, the ERAP2 gene polymorphisms (rs2248374 and rs2910686) may contribute genetically to the pathophysiology of psoriasis and PsA.

摘要

背景

银屑病(Ps)是一种归因于免疫系统的疾病,涉及皮肤和关节炎症。银屑病是一种多因素疾病,其中遗传因素约占疾病风险的 70%。本研究旨在确定 ERAP2 基因单核苷酸多态性(SNPs)rs2910686 和 rs2248374 与埃及人群中银屑病和/或银屑病关节炎(PsA)易感性的相关性。

方法和结果

使用实时 PCR 对 120 例关节炎和无关节炎银屑病患者和 100 例对照者 ERAP2 基因 SNPs(rs2910686 和 rs2248374)进行基因分型。ERAP2 SNP(rs2910686 和 rs2248374)的基因型频率和分布符合 Hardy-Weinberg 平衡(HWE)。对于 rs2910686,TC 和 CC 基因型和 C 等位基因频率与对照组相比是 PsA 的显著危险因素(OR=5.708,OR=10.165,OR=4.282)。与对照组相比,它们也是银屑病的显著危险因素(OR=5.165,OR=5.040,OR=3.258)。对于 rs2248374,与对照组相比,AG 基因型显著增加了 PsA(OR=2.605)和银屑病(OR=3.768)的风险。AG 基因型与银屑病(OR=3.369)G 等位基因与 PsA(OR=1.608)和银屑病(OR=1.965)相比,与 PsA 的风险显著相关。

结论

在埃及个体中,ERAP2 基因多态性(rs2248374 和 rs2910686)可能在遗传上导致银屑病和 PsA 的病理生理学发生。

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