2010年6月，万峻课题组在《British Journal of Dermatology》上发表了《Copy number variations of the human histamine H4 receptor gene are associated with systemic lupus erythematosus 》的论文，报道组胺受体H4的CNVs 和SLE风险是有关联。

全文摘要如下：

Background

Systemic lupus erythematosus (SLE) is a complex genetic disease; the histamine H4 receptor (HRH4) has been shown to be related to different kinds of autoimmune disorders; and recently the copy number variations (CNVs) have been found to be associated with various types of diseases.

Methods

Genomic DNA and total RNA from 340 patients with SLE and 392 healthy controls were extracted, and CNVs and mRNA levels of HRH4 were examined by quantitative real-time PCR..

Results

The expression of HRH4 mRNA was significantly increased in patients with SLE compared with controls. Amplification of HRH4 copy numbers significantly increased the risk of SLE [P <0.001, odds ratio (OR) 2.26, 95% confidence interval (CI) 1.50–3.40]. HRH4 amplifications also positively correlated with the incidence of arthritis (P =0.019, OR 1.96, 95% CI 1.11–3.47), and proteinuria (P <0.001, OR 2.95, 95% CI 1.73–5.00) and antinuclear antibody abnormalities (P <0.001, OR 2.97, 95% CI 1.66–5.33). Deletions of HRH4 copy numbers were protective against proteinuria (P =0.03, OR 0.50, 95% CI 0.26–0.94).

Conclusion

CNVs of the HRH4 gene are associated with SLE.