中国人群中与系统性红斑狼疮相关的 CYP2D6 遗传易感性和临床特征

IF 1.9 4区 医学 Q3 RHEUMATOLOGY
Lupus Pub Date : 2024-09-17 DOI:10.1177/09612033241281783
Xiaoning Luo, Juanhua Du, Jinjun Zhao, Meida Fan, Xin Luo, Peijin Zhao, Ping Zheng, Liqian Mo, Yilei Li
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引用次数: 0

摘要

本研究旨在探索中国人群中系统性红斑狼疮(SLE)患者可能的易感基因和临床特征。方法在之前一项涉及60名系统性红斑狼疮患者的单中心观察性研究结果的基础上,我们对2021年至2023年期间在南方医科大学南方医院接受治疗的系统性红斑狼疮患者进行了一项单中心前瞻性观察性研究。在确定药物相关靶基因的过程中,研究人员在PharmGKB(https://www.pharmgkb.org/)、临床药物遗传学实施联盟(CPIC)和PubMed文献数据库中进行了广泛搜索,以确定系统性红斑狼疮的常见药物和靶向单核苷酸多态性(SNPs)。血液样本单独采集,并使用 MassARRAY® 高通量核酸质谱进行基因分型。基因型频率差异通过与更大范围的东亚人群和肾移植受者进行卡方检验进行评估。数据收集依赖于电子病历,包括人口统计学细节(年龄、性别)、用药方案(激素、非甾体抗炎药、羟氯喹、DMARDs、生物制剂、胃药、钙三醇等)、实验室指标(射频、抗逆转录酶抑制剂等)。)、实验室指标(RF、抗CCP抗体、血沉、CRP、抗ANA抗体、dsDNA抗体、抗SM抗体、S m. RNP抗体、A LT、ALB、CR、UA、WBC、PLT、HGB、Ca、K、Glu、Chol、TG、LDL-C、HDL-C)和狼疮活动度评分(SLEDAI-2K)。对可能的疾病易感基因进行了分类,并使用 SPSS26 软件进行了统计分析。经过统计分析发现,在东亚人群(p <.05)和肾移植患者(p <.05)中,CYP2D6 基因(rs1065852)的分布与等位基因突变率相比存在显著差异。野生型基因(GG)占 14%,而突变基因(GA + AA)占 86%。系统性红斑狼疮患者的等位基因突变率(A63.6%)明显更高(RR = 0.802; p = .0355)。此外,变异基因 rs1065852 基因型(GA + AA)与较低的 CRP 水平、较高的 HGB 水平和较高的 HDL-C 水平有显著关联(p < 0 0.05)。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genetic susceptibility and clinical features of CYP2D6 associated with systemic lupus erythematosus in a Chinese population
ObjectiveThis study aims to explore possible susceptibility genes and clinical features for systemic lupus erythematosus (SLE) patients in a Chinese population.MethodsExpanding on the results of a prior single-center observational study involving 60 systemic lupus erythematosus patients, a subsequent single-center prospective observational study was conducted on SLE patients undergoing treatment at Nanfang Hospital Affiliated to Southern Medical University from 2021 to 2023. The identification process for drug-related target genes entailed an extensive search across PharmGKB ( https://www.pharmgkb.org/ ), the Clinical Pharmacogenetics Implementation Consortium (CPIC),and PubMed literature databases, to pinpoint common drugs and target single nucleotide polymorphisms(SNPs)for SLE. Blood samples were individually collected and genotyped using MassARRAY® high-throughput nucleic acid mass spectrometry. Genotype frequency differences were assessed through Chi-square tests against both the larger East Asian population as well as kidney transplant recipients. Data collection relied on electronic medical records, encompassing demographic details(age, gender),medication regimens(hormones, NSAIDs, hydroxychloroquine, DMARDs, biologic agents, stomach medications, calcitriol, etc.),laboratory indicators(RF, Anti-CCP antibody, ESR, CRP, anti-ANA antibodies, dsDNA antibodies, anti-SM antibodies, S m. RNP antibodies, A LT, ALB, CR, UA, WBC, PLT, HGB, Ca, K, Glu, CHOL, TG, LDL-C, HDL-C) and lupus activity scores(SLEDAI-2K). Possible disease susceptibility genes were categorized, and SPSS26 software facilitated statistical analyses.ResultsThe research encompassed a total of 137 SLE patients along with 50 SNPs. After conducting statistical analyses, it emerged that there existed significant disparities in CYP2D6 gene (rs1065852) distribution when compared against allele mutation rates within both East Asian populations ( p < .05) and kidney transplant patients( p < .05). Wild-type gene (GG) constituted 14% of cases while mutant gene (GA + AA) constituted 86%. Allele mutation rate (A63.6%) was significantly higher among SLE patients (RR = 0.802; p = .0355). Furthermore, the variant rs1065852 genotype (GA + AA) demonstrated significant associations with lower CRP levels, higher HGB levels, and higher HDL-C levels ( p < 0 0.05).ConclusionThe metabolic enzyme CYP2D6 may be used as susceptibility gene for predicting systemic lupus erythematosus and are correlated with CRP and other indicators.
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来源期刊
Lupus
Lupus 医学-风湿病学
CiteScore
4.20
自引率
11.50%
发文量
225
审稿时长
1 months
期刊介绍: The only fully peer reviewed international journal devoted exclusively to lupus (and related disease) research. Lupus includes the most promising new clinical and laboratory-based studies from leading specialists in all lupus-related disciplines. Invaluable reading, with extended coverage, lupus-related disciplines include: Rheumatology, Dermatology, Immunology, Obstetrics, Psychiatry and Cardiovascular Research…
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