Efanova Ekaterina, Bushueva Olga, Saranyuk Roman, Surovtseva Anna, Churnosov Mikhail, Solodilova Maria, Polonikov Alexey
Medvenka Central District Hospital, 68 Sovetskaya Street, 307030 Kursk, Russia.
Laboratory of Genomic Research, Research Institute for Genetic and Molecular Epidemiology, Kursk State Medical University, 18 Yamskaya Street, 305041 Kursk, Russia.
Life (Basel). 2023 Jun 2;13(6):1316. doi: 10.3390/life13061316.
The aim of this pilot study was to investigate whether single nucleotide polymorphisms (SNP) in the gene encoding the catalytic subunit of glutamate cysteine ligase () are associated with the risk and clinical features of psoriasis. A total of 944 unrelated individuals, including 474 patients with a diagnosis of psoriasis and 470 healthy controls, were recruited for the study. Six common SNPs in the gene were genotyped using the MassArray-4 system. Polymorphisms rs648595 (OR = 0.56, 95% CI 0.35-0.90; P = 0.017) and rs2397147 (OR = 0.54, 95% CI 0.30-0.98; P = 0.05) were associated with susceptibility to psoriasis in males. In the male group, diplotype rs2397147-C/C × rs17883901-G/G was associated with a decreased risk of psoriasis (FDR-adjusted = 0.014), whereas diplotype rs6933870-G/G × rs17883901-G/G (FDR-adjusted = 0.045) showed an association with an increased disease risk in females. The joint effects of SNPs with tobacco smoking (rs648595 and rs17883901) and alcohol abuse (rs648595 and rs542914) on psoriasis risk were observed (P ≤ 0.05). We also found multiple sex-independent associations between gene polymorphisms and various clinical features such as earlier disease onset, the psoriatic triad, and specific localizations of skin lesions. The present study is the first to show that polymorphisms of the gene are significantly associated with the risk of psoriasis and related to its clinical features.
本初步研究的目的是调查编码谷氨酸半胱氨酸连接酶催化亚基（）的基因中的单核苷酸多态性（SNP）是否与银屑病的风险和临床特征相关。该研究共招募了944名无亲属关系的个体，其中包括474例诊断为银屑病的患者和470名健康对照。使用MassArray-4系统对该基因中的六个常见SNP进行基因分型。多态性rs648595（OR = 0.56，95% CI 0.35 - 0.90；P = 0.017）和rs2397147（OR = 0.54，95% CI 0.30 - 0.98；P = 0.05）与男性银屑病易感性相关。在男性组中，双倍型rs2397147 - C/C×rs17883901 - G/G与银屑病风险降低相关（FDR校正 = 0.014），而双倍型rs6933870 - G/G×rs17883901 - G/G（FDR校正 = 0.045）在女性中显示与疾病风险增加相关。观察到SNP与吸烟（rs648595和rs17883901）和酗酒（rs648595和rs542914）对银屑病风险的联合作用（P≤0.05）。我们还发现该基因多态性与多种临床特征之间存在多种性别独立关联，如疾病发病较早、银屑病三联征以及皮肤病变的特定部位。本研究首次表明该基因的多态性与银屑病风险显著相关并与其临床特征有关。
