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评估沙特人群中白癜风患者的 A-89T、C389T 和 C419T 变异。

Evaluation of Variants A-89T, C389T, and C419T in Patients with Vitiligo in the Saudi Population.

机构信息

Department of Dermatology, College of Medicine, King Saud University, Riyadh 11451, Saudi Arabia.

Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University, Riyadh 11433, Saudi Arabia.

出版信息

Medicina (Kaunas). 2023 Apr 4;59(4):708. doi: 10.3390/medicina59040708.

Abstract

: Vitiligo is a chronic autoimmune and depigmentation disorder in humans that manifests as whitening lesions. Reactive oxygen species (ROS) are involved in cell damage. Catalase (CAT) is a well-known oxidative stress regulator and is primarily responsible for the catalytic decomposition of hydrogen peroxide into water and oxygen. Based on previous case-control and meta-analysis studies, we assessed the prevalence of three single-nucleotide polymorphisms (SNPs) of the genes A-89T (rs7943316), C389T (rs769217) and C419T (rs11032709) in participants with vitiligo and healthy controls in the Saudi population. : We recruited 152 participants with vitiligo and 159 healthy controls for A-89T, C389T, and C419T SNP genotyping studies using PCR and RFLP analysis. Additionally, we performed linkage disequilibrium and haplotype analyses between vitiligo cases and controls. : The rs7943316 and rs11032709 SNPs of the genes showed a positive association with vitiligo for both heterozygous genotypes and dominant genetic models (TT + AT vs. AA in A-89T and TT + CT vs. CC in C389T), in the gene. Linkage disequilibrium analysis revealed a moderate linkage between rs7943316 and rs11032709 SNPs in vitiligo cases and controls. Haplotype frequency estimation revealed a significant association ( = 0.003) among the three SNP alleles. : The rs7943316 and rs11032709 SNPs of the genes were strongly associated with susceptibility to vitiligo.

摘要

白癜风是一种人类慢性自身免疫性脱色素疾病,表现为白斑。活性氧(ROS)参与细胞损伤。过氧化氢酶(CAT)是一种众所周知的氧化应激调节剂,主要负责催化过氧化氢分解为水和氧气。基于之前的病例对照和荟萃分析研究,我们评估了 基因的三个单核苷酸多态性(SNP)A-89T(rs7943316)、C389T(rs769217)和 C419T(rs11032709)在沙特人群中白癜风患者和健康对照者中的患病率。

我们招募了 152 名白癜风患者和 159 名健康对照者进行 A-89T、C389T 和 C419T SNP 基因分型研究,使用 PCR 和 RFLP 分析。此外,我们还在白癜风病例和对照组之间进行了连锁不平衡和单倍型分析。

基因的 rs7943316 和 rs11032709 单核苷酸多态性与白癜风的杂合基因型和显性遗传模型(A-89T 中的 TT+AT 与 AA,C389T 中的 TT+CT 与 CC)均呈正相关。连锁不平衡分析显示白癜风病例和对照组之间 rs7943316 和 rs11032709 单核苷酸多态性存在中度连锁。单倍型频率估计显示三个 SNP 等位基因之间存在显著关联( = 0.003)。

基因的 rs7943316 和 rs11032709 单核苷酸多态性与白癜风易感性密切相关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/516c/10141203/474c45568833/medicina-59-00708-g001.jpg

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