No evidence for a genetic association of IRF4 with systemic lupus erythematosus in a Chinese population

• Published in: Zeitschrift für Rheumatologie 2014-08, Vol.73 (6), p.565-570
• Main Authors: Liu, S.-S., Ye, D., Lou, J., Fan, Z., Ye, D.-Q.
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Aged; Case-Control Studies; Child; China - epidemiology; Female; Genetic Association Studies; Genetic Markers - genetics; Genetic Predisposition to Disease - epidemiology; Genetic Predisposition to Disease - genetics; Humans; Immunology; Interferon Regulatory Factors - genetics; Internal Medicine; Laboratory Medicine; Lupus Erythematosus, Systemic - epidemiology; Lupus Erythematosus, Systemic - genetics; Male; Medicine; Medicine & Public Health; Middle Aged; Originalien; Orthopedics; Polymorphism, Single Nucleotide - genetics; Prevalence; Rheumatology; Risk Factors; Young Adult
• ISSN: 0340-1855; 1435-1250
• DOI: 10.1007/s00393-013-1279-6

Systemic lupus erythematosus (SLE) is a complex autoimmune disease with immunological defects caused by abnormal immune regulation and excessive production of autoantibodies. Interferon regulatory factor 4 (IRF4) as a lymphocyte-restricted member of the IRF family is expressed exclusively in immune system cells and is essential for the development of T helper-2 (Th2) cells, IL17-producing T helper (Th17) cells, and IL9-producing T helper (Th9) cells. Some studies have shown that IRF4 is important in the development of autoimmune diseases. The role of IRF4 in human SLE has not been extensively studied. This article will discuss the relationship between the IRF4 gene polymorphism (single nucleotide polymorphism rs872071) and the susceptibility to SLE in a Chinese Han population. A case–control study was performed with 663 SLE patients and 658 healthy controls. The results showed that IRF4 gene polymorphism (rs872071) was not significantly different between SLE patients and healthy controls [A/G vs. G/G: p = 0.543, odds ratio (OR) = 0.872, 95 % confidence interval (CI) 0.562–1.355; G vs. A: p = 0.512, OR = 1.058, 95 % CI 0.893–1.254; A/A + A/G vs. G/G: p = 0.475, OR = 0.857, 95 % CI 0.562–1.308]. Similarly, in a subgroup analysis of clinical manifestation of lupus nephritis (LN), no significant differences were found between the non-LN group and the LN group (G/G vs. A/G vs. A/A: χ 2  = 0.611, p = 0.631; G vs. A: χ 2  = 0.411, p = 0.521).These findings suggest that the IRF4 gene polymorphism is not associated with SLE in a Chinese Han population; further studies are needed to establish the role of IRF4 in SLE with a larger sample size.