Department of Medical Sciences, Clinical Pharmacogenomics & Science for Life Laboratory, Uppsala University, SE-751 85, Uppsala, Sweden.
Department of Immunology, Genetics & Pathology, & Science for Life Laboratory, Uppsala University, SE-751 22, Uppsala, Sweden.
Pharmacogenomics. 2022 Oct;23(15):813-820. doi: 10.2217/pgs-2022-0074. Epub 2022 Sep 7.
A follow-up genome-wide association study (GWAS) in an extended cohort of rheumatoid arthritis (RA) patients starting low-dose methotrexate (MTX) treatment was performed to identify further genetic variants associated with alanine aminotransferase (ALT) elevation. A GWAS was performed on 346 RA patients. Two outcomes within the first 6 months of MTX treatment were assessed: ALT >1.5-times the upper level of normal (ULN) and maximum level of ALT. (rs72783407) was significantly associated with maximum level of ALT (p = 2.58 × 10) and (rs60427389) was tentatively associated with ALT >1.5 × ULN. Associations with SNPs in genes related to male fertility () and inflammatory processes () were identified.
一项针对开始接受低剂量甲氨蝶呤 (MTX) 治疗的类风湿关节炎 (RA) 患者的扩展队列的后续全基因组关联研究 (GWAS) 旨在鉴定与丙氨酸氨基转移酶 (ALT) 升高相关的其他遗传变异。对 346 名 RA 患者进行了 GWAS。在 MTX 治疗的前 6 个月内评估了两个结果：ALT 超过正常值上限 (ULN) 的 1.5 倍和 ALT 的最高水平。与最大 ALT 水平显著相关 (p = 2.58 × 10)，与 ALT > 1.5 × ULN 呈弱阳性相关 (rs60427389)。还鉴定到与男性生育能力相关的基因 (rs72783407) 和炎症过程 (rs60427389) 中 SNPs 的关联。
