Department of Dermatology, Shenzhen Hospital Peking University, Shenzhen, Guangdong, China.
Br J Dermatol. 2010 Nov;163(5):935-40. doi: 10.1111/j.1365-2133.2010.09928.x.
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 copy number variations (CNVs) have been found to be associated with various types of diseases.
To explore a possible association between HRH4 (formerly H4R) CNVs and the risk of SLE.
Genomic DNA and RNA from 340 patients with SLE and 392 healthy controls were extracted, and CNVs and mRNA levels of HRH4 were examined.
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).
CNVs of the HRH4 gene are associated with SLE.
系统性红斑狼疮（SLE）是一种复杂的遗传疾病；组胺 H4 受体（HRH4）已被证明与各种自身免疫性疾病有关；并且已发现拷贝数变异（CNVs）与各种类型的疾病有关。
探讨 HRH4（以前称为 H4R）CNVs 与 SLE 风险之间的可能关联。
从 340 例 SLE 患者和 392 例健康对照中提取基因组 DNA 和 RNA，并检查 HRH4 的 CNVs 和 mRNA 水平。
与对照组相比，SLE 患者 HRH4 mRNA 的表达明显增加。HRH4 拷贝数的扩增显著增加了 SLE 的风险[P < 0·001，比值比（OR）2·26，95%置信区间（CI）1·50-3·40]。HRH4 扩增也与关节炎的发生率呈正相关（P = 0·019，OR 1·96，95% CI 1·11-3·47），蛋白尿（P < 0·001，OR 2·95，95% CI 1·73-5·00）和抗核抗体异常（P < 0·001，OR 2·97，95% CI 1·66-5·33）。HRH4 拷贝数缺失对蛋白尿有保护作用（P = 0·03，OR 0·50，95% CI 0·26-0·94）。
HRH4 基因的 CNVs 与 SLE 相关。
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