Abstract
Aim: A follow-up genome-wide association study (GWAS) in an extended cohort of rheumatoid arthritis (RA) patients starting low-dose methotrexate (MTX) treatment was performedto identify further genetic variants associated with alanine aminotransferase (ALT) elevation. Patients & methods: AGWAS was performedon 346 RA patients. Two outcomes within the first 6months of MTX treatment were assessed: ALT >1.5-times the upper level of normal (ULN) and maximum level of ALT. Results: SPATA9 (rs72783407) was significantly associated with maximum level of ALT (p=2.58×10-8) and PLCG2 (rs60427389) was tentatively associated with ALT >1.5×ULN. Conclusion: Associations with SNPs in genes related to male fertility (SPATA9) and inflammatory processes (PLCG2) were identified.
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