中国类风湿关节炎患者靶基因多态性及甲氨蝶呤的临床反应

IF 0.6 4区医学 Q4 MEDICAL LABORATORY TECHNOLOGY

Clinical laboratory Pub Date : 2025-08-01 DOI:10.7754/Clin.Lab.2025.241250

Mengqiao Wang, Qinwen Wen, Hang Yu, Xiudi Wu, Shuai Zhi, Han Cen

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引用次数: 0

摘要

背景：本研究旨在评估中国类风湿关节炎（RA）患者靶基因遗传多态性与甲氨蝶呤（MTX）临床反应之间的关系。方法：纳入115例接受MTX治疗约3个月的RA患者，临床反应由欧洲抗风湿病联盟（EULAR）反应标准和28个关节计数-红细胞沉降率（DAS28-ESR）低疾病活动性（LDA）的疾病活动性评分来确定。对DHFR、TYMS、ATIC、ADA和AMPD1的30个遗传多态性进行基因分型。结果:ATIC的主要基因rs2372536 (RR = 0.85, 95% CI = 0.72 - 0.99, p = 0.04), ATIC rs4673991 (RR = 0.85, 95% CI = 0.73 - 0.99, p = 0.04), ATIC rs4673993 (RR = 0.85, 95% CI = 0.73 - 0.99, p = 0.04), ADA rs2057638 (RR = 0.86, 95% CI = 0.76 - 0.99, p = 0.03),和ADA rs6017375 (RR = 0.86, 95% CI = 0.76 - 0.99, p = 0.03)被发现与欧拉响应在主导模式显著相关,而主要的ADA rs371927等位基因(RR = 1.23, 95% CI = 1.04 - 1.46,p = 0.02)在隐性模型下与EULAR反应显著相关。此外，检测到ADA的主要等位基因rs1799880 （RR = 0.60, 95% CI = 0.43 ~ 0.84, p = 0.003）和rs6031697 （RR = 0.61, 95% CI = 0.47 ~ 0.78, p < 0.001）与DAS28-ESR LDA显著相关。结论：ATIC和ADA基因多态性与中国RA患者MTX的临床反应显著相关。

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Target Gene Polymorphisms and Clinical Response to Methotrexate in Chinese Rheumatoid Arthritis Patients.

Background: This study aimed to evaluate the associations between genetic polymorphisms within target genes and clinical response to methotrexate (MTX) in Chinese rheumatoid arthritis (RA) patients.

Methods: One hundred and fifteen RA patients treated with MTX for approximately 3 months were enrolled, and clinical response was determined by European League Against Rheumatism (EULAR) response criteria and disease activity score in 28 joint counts - erythrocyte sedimentation rate (DAS28-ESR) low disease activity (LDA). Thirty genetic polymorphisms within DHFR, TYMS, ATIC, ADA, and AMPD1 were genotyped.

Results: The major allele of ATIC rs2372536 (RR = 0.85, 95% CI = 0.72 - 0.99, p = 0.04), ATIC rs4673991 (RR = 0.85, 95% CI = 0.73 - 0.99, p = 0.04), ATIC rs4673993 (RR = 0.85, 95% CI = 0.73 - 0.99, p = 0.04), ADA rs2057638 (RR = 0.86, 95% CI = 0.76 - 0.99, p = 0.03), and ADA rs6017375 (RR = 0.86, 95% CI = 0.76 - 0.99, p = 0.03) were found to be significantly associated with EULAR response under dominant model, while the major allele of ADA rs371927 (RR = 1.23, 95% CI = 1.04 - 1.46, p = 0.02) was shown to be significantly associated with EULAR re¬sponse under recessive model. Moreover, the major allele of ADA rs1799880 (RR = 0.60, 95% CI = 0.43 - 0.84, p = 0.003) and rs6031697 (RR = 0.61, 95% CI = 0.47 - 0.78, p < 0.001) were detected to be significantly associated with DAS28-ESR LDA.

Conclusions: Genetic polymorphisms within ATIC and ADA were significantly associated with clinical response to MTX in Chinese patients with RA.

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来源期刊

Clinical laboratory 医学-医学实验技术

CiteScore

1.50

自引率

0.00%

发文量

494

审稿时长

3 months

期刊介绍： Clinical Laboratory is an international fully peer-reviewed journal covering all aspects of laboratory medicine and transfusion medicine. In addition to transfusion medicine topics Clinical Laboratory represents submissions concerning tissue transplantation and hematopoietic, cellular and gene therapies. The journal publishes original articles, review articles, posters, short reports, case studies and letters to the editor dealing with 1) the scientific background, implementation and diagnostic significance of laboratory methods employed in hospitals, blood banks and physicians'' offices and with 2) scientific, administrative and clinical aspects of transfusion medicine and 3) in addition to transfusion medicine topics Clinical Laboratory represents submissions concerning tissue transplantation and hematopoietic, cellular and gene therapies.