Interleukin-6 promoter polymorphism −174 G/C is associated with nephritis in Portuguese Caucasian systemic lupus erythematosus patients

Santos, María José; Fernandes, Diana A.; Capela, Susana; Silva, José Canas da; Fonseca, João Eurico

doi:10.1007/s10067-010-1640-y

Cited by 35 publications

(33 citation statements)

References 23 publications

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“…Earlier studies showed no significant differences in allele frequencies between German SLE patients and healthy controls [22]. There were no significant differences in the allele frequencies between Portuguese [23] and Chinese [24] patients with SLE either. However, our results are in line with the results of a recent meta-analysis which proved that the −174G allele is associated with SLE mainly in the European populations and less with SLE in the Asian ones [26].…”

Section: Discussionmentioning

confidence: 78%

“…The GG genotype was earlier found to be increased in Egyptian [20] and Malaysian [21] patients with SLE but no significant differences in the genotype frequencies were found between German patients and healthy controls [22]. There were no significant differences in the genotype frequencies between Portuguese [23] and Chinese [24] patients with SLE either. Probably such differences could be explained with population variations [25].…”

Section: Discussionmentioning

confidence: 99%

“…The SLE patients with GG genotype showed significantly higher frequencies and increased risk of constitutional manifestations at disease onset, photosensitivity, hematological disorders, and positivity of ANA and anti-dsDNA [27]. Quite surprisingly, Santos et al [23] found the −174CC genotype but not the GG genotype to be independently associated with renal disease and the C allele with the presence of irreversible damage. Huang et al [24] did not detect any association between the IL-6 genotype and clinical or laboratory profiles in SLE patients.…”

Section: Discussionmentioning

confidence: 99%

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Role of the Promoter Polymorphism IL-6 −174G/C in Dermatomyositis and Systemic Lupus Erythematosus

Hristova

Dourmishev

Kamenarska

et al. 2013

BioMed Research International

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The promoter polymorphism −174G/C within the interleukin-6 gene (IL-6) has been reported to have a functional importance through the modulation of IL-6 gene expression in vitro and in vivo. IL-6 is thought to play an important role in autoimmune diseases and the effect of its receptor inhibitor—tocilizumab—has been recently studied. The aim of this case-control study was to investigate the association between the interleukin-6 −174G/C single nucleotide polymorphism and the susceptibility to dermatomyositis (DM) and systemic lupus erythematosus (SLE) in Bulgarian patients. Altogether, 87 patients—52 with SLE and 35 with DM—as well as 80 unrelated healthy controls were included in this study. All of them were analyzed by restriction fragment length polymorphism analysis (RFLP). The GG genotype and the G allele appeared to be associated with SLE, especially in women. None of the genotypes showed an association with DM. However, the G allele appeared to be associated with muscle weakness and it is a risk factor for elevated muscle enzymes. Our results indicate that IL-6 −174G/C polymorphism might be associated with the susceptibility to SLE especially in women. Although it is not associated with DM, it seems that IL-6 −174G/C polymorphism could modulate some clinical features in the autoimmune myopathies.

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Section: Discussionmentioning

confidence: 78%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Role of the Promoter Polymorphism IL-6 −174G/C in Dermatomyositis and Systemic Lupus Erythematosus

Hristova

Dourmishev

Kamenarska

et al. 2013

BioMed Research International

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“…IL-6 promoter polymorphism (−174 G/C) is commonly investigated as a risk factor in SLE. While a study on Malaysian population found a significant correlation between homozygous G genotype and SLE susceptibility, none of the studies in Taiwan, Iran, and Portugal reported the association of this polymorphism with SLE in their populations [29, 59–61]. …”

Section: Candidate Genesmentioning

confidence: 99%

Genetic Risk Factors of Systemic Lupus Erythematosus in the Malaysian Population: A Minireview

Chai

Phipps

Chua

2012

Clinical and Developmental Immunology

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SLE is an autoimmune disease that is not uncommon in Malaysia. In contrast to Malays and Indians, the Chinese seem to be most affected. SLE is characterized by deficiency of body's immune response that leads to production of autoantibodies and failure of immune complex clearance. This minireview attempts to summarize the association of several candidate genes with risk for SLE in the Malaysian population and discuss the genetic heterogeneity that exists locally in Asians and in comparison with SLE in Caucasians. Several groups of researchers have been actively investigating genes that are associated with SLE susceptibility in the Malaysian population by screening possible reported candidate genes across the SLE patients and healthy controls. These candidate genes include MHC genes and genes encoding complement components, TNF, FcγR, T-cell receptors, and interleukins. However, most of the polymorphisms investigated in these genes did not show significant associations with susceptibility to SLE in the Malaysian scenario, except for those occurring in MHC genes and genes coding for TNF-α, IL-1β, IL-1RN, and IL-6.

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“…Among these, the most studied SNP at position -174 (IL-6 -174G/C) can modify transcriptional regulation and cytokine levels, and has an impact on inflammatory phenotypes (Fishman et al, 1998). Previous studies have shown that IL-6 -174 G/C polymorphism is associated with the development and progression of various human diseases including systemic lupus erythematosus, neuroblastoma, coronary heart disease, HIV/AIDS, and nephritis (Sobti et al, 2010;Santos et al, 2011;Yin et al, 2012;Totaro et al, 2013;Yang et al, 2014).…”

Section: Introductionmentioning

confidence: 99%

Meta-analysis of IL-6 -174G/C polymorphism and psoriasis risk

Nie¹,

Xie

Cao

et al. 2016

Genet. Mol. Res.

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ABSTRACT. Previous studies examining the association between interleukin-6 (IL-6) -174G/C polymorphism and psoriasis risk have produced inconsistent results. The aim of this study was to offer a comprehensive review of the association between IL-6 -174G/C polymorphism and psoriasis risk through a meta-analysis. Literature search of PubMed and Embase databases was conducted to identify all eligible studies published before October 29, 2015. Four case-control studies involving 651 psoriasis cases and 552 controls were included in this meta-analysis. Data were extracted, and pooled odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to assess the associations. Combined analysis revealed a significant association between this polymorphism and psoriasis risk under the recessive model (OR = 1.69, 95%CI = 1.12-2.55, P = 0.013 for GG vs GC + CC), and the heterozygous comparison model (OR = 1.70, 95%CI = 1.29-2.23, P < 0.001 for GG vs GC). However, no significant association was observed under the allelic model (OR = 1.37, 95%CI = 0.99-1.89, P = 0.060 for G vs C), the dominant model (OR = 1.25, 95%CI = 0.92-1.71, P = 0.152 2 G. Nie et al. ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 15 (2): gmr.15028255 for GG + GC vs CC), and the homozygote comparison model (OR = 1.62, 95%CI = 0.79-3.32, P = 0.186 for GG vs CC). We conclude that the IL-6 -174G/C polymorphism contributes to psoriasis risk. However, further studies should be performed to validate our results.

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Interleukin-6 promoter polymorphism −174 G/C is associated with nephritis in Portuguese Caucasian systemic lupus erythematosus patients

Cited by 35 publications

References 23 publications

Role of the Promoter Polymorphism IL-6 −174G/C in Dermatomyositis and Systemic Lupus Erythematosus

Role of the Promoter Polymorphism IL-6 −174G/C in Dermatomyositis and Systemic Lupus Erythematosus

Genetic Risk Factors of Systemic Lupus Erythematosus in the Malaysian Population: A Minireview

Meta-analysis of IL-6 -174G/C polymorphism and psoriasis risk

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