C1QTNF4 gene p.His198Gln mutation is correlated with early‐onset systemic lupus erythematosus in Iranian patients

• Published in: International journal of rheumatic diseases Vol. 23; no. 11; pp. 1594 - 1598
• Main Authors: Pakzad, Bahram, Shirpour, Reza, Mousavi, Maryam, Karimzadeh, Hadi, Salehi, Amirhossein, Kazemi, Mehdi, Amini, Guilda, Akbari, Mojtaba, Salehi, Rasoul
• Format: Journal Article
• Language: English
• Published: Richmond Wiley Subscription Services, Inc 01.11.2020
• Subjects: autoimmune disease; Autoimmune diseases; C1QTNF4 gene; Etiology; Genetic factors; Genotyping; Inflammation; Lupus; Mutation; Polymerase chain reaction; Systemic lupus erythematosus
• ISSN: 1756-1841; 1756-185X
• DOI: 10.1111/1756-185X.13981

Background 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. Methods 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. Results 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). Conclusion Our results suggest that this mutation (p.His198Gln) potentially has an important role in SLE risk in the Iranian population.