Department of Internal Medicine, School of Medicine, Isfahan University of Medical Science, Isfahan, Iran.
Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-communicable Disease and Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Int J Rheum Dis. 2020 Nov;23(11):1594-1598. doi: 10.1111/1756-185X.13981. Epub 2020 Oct 2.
Systemic lupus erythematosus (SLE) is an autoimmune disease with multifactorial etiology. Several studies show that genetic factors have an important part in the incidence of SLE. The C1QTNF4 gene is involved in the regulation of the inflammatory pathways by pro-inflammatory function. In the present study, we have evaluated the association between C1QTNF4 gene p.His198Gln mutation and risk of SLE.
Forty SLE patients and 40 control subjects were recruited in this case-control study. Genotyping of C1QTNF4 p.His198Gln mutation was performed using real-time polymerase chain reaction high resolution melting method.
We found a significant association between this mutation (GG + GC) with the risk of SLE (odds ratio = 6.33, 95% CI = 1.28-31.11). Furthermore, we observed that in the patient group, this mutation leads to early-onset SLE (19.7 ± 4.34 years for mutation carriers compared to 27.7 ± 11.4 years for wild type carriers; P = .003).
Our results suggest that this mutation (p.His198Gln) potentially has an important role in SLE risk in the Iranian population.
系统性红斑狼疮（SLE）是一种具有多因素病因的自身免疫性疾病。多项研究表明，遗传因素在 SLE 的发病中起着重要作用。C1QTNF4 基因通过促炎功能参与炎症途径的调节。在本研究中，我们评估了 C1QTNF4 基因 p.His198Gln 突变与 SLE 风险之间的关联。
在这项病例对照研究中，我们招募了 40 名 SLE 患者和 40 名对照。使用实时聚合酶链反应高分辨率熔解方法对 C1QTNF4 p.His198Gln 突变进行基因分型。
我们发现该突变（GG+GC）与 SLE 风险之间存在显著关联（比值比=6.33，95%置信区间=1.28-31.11）。此外，我们观察到在患者组中，该突变导致早发性 SLE（突变携带者为 19.7±4.34 岁，野生型携带者为 27.7±11.4 岁；P=0.003）。
我们的结果表明，该突变（p.His198Gln）可能在伊朗人群中对 SLE 风险具有重要作用。
