Copy number variations of the human histamine H4 receptor gene are associated with systemic lupus erythematosus.

摘要: Summary Background  Systemic lupus erythematosus (SLE) is a complex genetic disease; the histamine H4 receptor (HRH4) has been shown to be related different kinds of autoimmune disorders; and copy number variations (CNVs) have found associated with various types diseases. Objectives  To explore possible association between HRH4 (formerly H4R) CNVs risk SLE. Methods  Genomic DNA RNA from 340 patients SLE 392 healthy controls were extracted, mRNA levels examined. Results  The expression was significantly increased in compared controls. Amplification numbers [P < 0·001, odds ratio (OR) 2·26, 95% confidence interval (CI) 1·50–3·40]. amplifications also positively correlated incidence arthritis (P = 0·019, OR 1·96, CI 1·11–3·47), proteinuria (P < 0·001, 2·95, 1·73–5·00) antinuclear antibody abnormalities 2·97, 1·66–5·33). Deletions protective against (P = 0·03, 0·50, 0·26–0·94). Conclusion  gene are SLE.