Association of IL-6 -174 G>C polymorphism with the risk of SLE among south Indians: evidence from case–control study and meta-analysis

Cytokines play a direct role in disease pathogenesis of systemic lupus erythematosus (SLE). Elevated levels of serum IL-6 are well documented with the disease activity and anti-dsDNA antibodies in SLE. The 5′ promoter region of the IL-6 gene has been shown to play a significant role in the regulatio...

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Bibliographic Details
Published in:Lupus 2017-12, Vol.26 (14), p.1491-1501
Main Authors: Katkam, S K, Rajasekhar, L, Kumaraswami, K, Kutala, V K
Format: Article
Language:English
Subjects:
Adult
Alleles
Anti-DNA antibodies
Case-Control Studies
Female
Gene expression
Genetic Predisposition to Disease
Haplotypes
Health risk assessment
Humans
Interleukin 6
Interleukin-6 - blood
Interleukin-6 - genetics
Lupus Erythematosus, Systemic - genetics
Lupus Erythematosus, Systemic - immunology
Male
Meta-analysis
Pathogenesis
Polymorphism, Single Nucleotide
Promoter Regions, Genetic - genetics
Systemic lupus erythematosus
Young Adult
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Summary:Cytokines play a direct role in disease pathogenesis of systemic lupus erythematosus (SLE). Elevated levels of serum IL-6 are well documented with the disease activity and anti-dsDNA antibodies in SLE. The 5′ promoter region of the IL-6 gene has been shown to play a significant role in the regulation of gene expression. In view of this, the current study aimed to investigate the possible association of 5′ promoter polymorphisms G-597A (rs1800797), G-572C (rs1800796) and G-174C (rs1800795) with the risk of SLE. Analysis of 468 subjects (202 SLE patients and 266 controls) showed a significant association of the -174 G/C variant with the SLE risk in both dominant and recessive model (odds ratio (OR) 3.20, 95% confidence interval (CI) 1.18–8.69, P = 0.020 and OR 2.02, 95% CI 1.35–3.02, P = 0.0005), respectively. The ‘G allele of the -174 loci (OR 1.97, 95% CI 1.39–2.78, P = 0.00012) has shown significant distribution between the cases and controls. The haplotype analysis revealed that AGG haplotype carriers are more frequent in cases than controls and found a significant positive association (OR 1.394, 95% CI 1.07–7.12, P = 0.028) with SLE. In addition, we also undertook a meta-analysis on 13 study groups for -174 G/C, comprising a total of 1585 cases and 1690 controls. The pooled OR also suggested a significant association of -174 G/C with SLE (OR 1.36, 95% CI 1.22–1.53, P 
ISSN:0961-2033
1477-0962
DOI:10.1177/0961203317711010