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C1qtnf4 Gene P.His198gln Mutation Is Correlated With Early-Onset Systemic Lupus Erythematosus in Iranian Patients Publisher Pubmed



Pakzad B1 ; Shirpour R1 ; Mousavi M1 ; Karimzadeh H1 ; Salehi A1 ; Kazemi M1 ; Amini G2 ; Akbari M1 ; Salehi R2
Authors
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Authors Affiliations
  1. 1. Department of Internal Medicine, School of Medicine, Isfahan University of Medical Science, Isfahan, Iran
  2. 2. 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

Source: International Journal of Rheumatic Diseases Published:2020


Abstract

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. © 2020 Asia Pacific League of Associations for Rheumatology and John Wiley & Sons Australia, Ltd
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