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Genome-wide association study of liver enzyme elevation in an extended cohort of rheumatoid arthritis patients starting low-dose methotrexate: Supplementary data

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posted on 2022-09-07, 17:25 authored by Marco Cavalli, Niclas Eriksson, Johanna Karlsson Sundbaum, Matilda Wallenberg, Hugo Kohnke, Eva Baecklund, Pär Hallberg, Mia Wadelius

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 performed to identify further genetic

variants associated with alanine aminotransferase (ALT) elevation. Patients & methods: 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. 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.


This work was supported by the Agnes and Mac Rudberg’s, Brunnberg’s, Selander’s and Thure´us’ Foundations at Uppsala University; Swedish Rheumatism Association; Swedish Research Council (Medicine 521-2011-2440, 521-2014-3370 and 2018-03307); Swedish Heart-Lung Foundation (20120557, 20140291 and 20170711); and Clinical Research Support (Avtal om La¨ karutbildning och Forskning, ALF) at Uppsala University.