Contribution of STAT4 gene single-nucleotide polymorphism to systemic lupus erythematosus in the Polish population

Abstract

The STAT4 has been found to be a susceptible gene in the development of systemic lupus erythematosus (SLE) in various populations. There are evident population differences in the context of clinical manifestations of SLE, therefore we investigated the prevalence of the STAT4 G > C (rs7582694) polymorphism in patients with SLE (n = 253) and controls (n = 521) in a sample of the Polish population. We found that patients with the STAT4 C/G and CC genotypes exhibited a 1.583-fold increased risk of SLE incidence (95 % CI = 1.168–2.145, p = 0.003), with OR for the C/C versus C/G and G/G genotypes was 1.967 (95 % CI = 1.152–3.358, p = 0.0119). The OR for the STAT4 C allele frequency showed a 1.539-fold increased risk of SLE (95 % CI = 1.209–1.959, p = 0.0004). We also observed an increased frequency of STAT4 C/C and C/G genotypes in SLE patients with renal symptoms OR = 2.259 (1.365–3.738, p = 0.0014), (p corr = 0.0238) and in SLE patients with neurologic manifestations OR = 2.867 (1.467–5.604, p = 0.0016), (p corr = 0.0272). Moreover, we found a contribution of STAT4 C/C and C/G genotypes to the presence of the anti-snRNP Ab OR = 3.237 (1.667–6.288, p = 0.0003), (p corr = 0.0051) and the presence of the anti-Scl-70 Ab OR = 2.665 (1.380–5.147, p = 0.0028), (p corr = 0.0476). Our studies confirmed an association of the STAT4 C (rs7582694) variant with the development of SLE and occurrence of some clinical manifestations of the disease.Electronic supplementary materialThe online version of this article (doi:10.1007/s11033-012-1752-3) contains supplementary material, which is available to authorized users.

Association of STAT4 Polymorphisms with Susceptibility to Type-1 Autoimmune Hepatitis in the Japanese Population

“…STAT4 SNPs (rs7574865, rs7582694) were determined by the polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP) method [22], [23]. The primers used for the PCR reaction were rs7574865, F:5′-AAAGAAGTGGGATAAAAAGAAGTTTG-3′, R:5′-CCACTGAAATAAGATAACCACTGT-3′, and rs7582694, F:5′-ATCCAACTCTTCTCAGCCCTT-3′, R:5′-TCATAATCAGGAGAGAGGAGT-3′.…”

Systemic Lupus Erythematosus: Old and New Susceptibility Genes versus Clinical Manifestations

“…Its expression may be related to the differentiation of immune cells to inflammatory subsets, production of inflammatory cytokines and autoantibodies, prevention of apoptosis and presentation of autoantigens, which may stimulate the development of autoimmune diseases [155]. STAT4 gene lies adjacent to STAT1 at chromosome 2 (2q32.2–2q32.3).…”

Association of Stat4 Gene Single-Nucleotide Polymorphism With Systemic Lupus Erythematosus.

“…In this study STAT4 rs7582694 intronic substitution was shown to be significantly increase the risk of SLE occurrence in the sample population. studies carried out by Piotrowski et al [4]. demonstrated a statistically significant contribution of STAT4 (rs7582694) to SLE incidence in polish.Luan et al [15] demonstrated a statistically significant contribution of STAT4 (rs7582694) to SLE incidence in the Mainland Chinese female population.…”

“…The role of STAT4 (rs7582694) as a risk allele in development of renal and neurologic manifestation has not established in this study in concordance withLuan et al [15] that reported no association between rs7582694 and sub phenotype of SLE in Chinese Han population.On the other hand, Piotrowski et al [4] found that this SNP can be associated with renal and neurological symptoms of SLE. Since this autoimmune disease is vastly heterogeneous, further studies of this polymorphism's effects on clinical manifestationsof SLE in other populations would be valuable.…”

“…Flare-ups of SLE can be triggered by various environmental components, such as exposure to ultraviolet light, drugs, chemicals, and viral infections [4].…”