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.
Mol Biol Rep. 2024 Jul 24;51(1):847. doi: 10.1007/s11033-024-09733-w.
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.
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.
In Egyptian individuals, the ERAP2 gene polymorphisms (rs2248374 and rs2910686) may contribute genetically to the pathophysiology of psoriasis and PsA.
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。
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。
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。