Relationship between the <scp>IL</scp>‐4 gene promoter ‐590C/T (rs2243250) polymorphism and susceptibility to autoimmune diseases: a meta‐analysis

Qiu, Lijuan; Ni, Jing; Cen, Han; Wen, Pengfei; Zhang, M.; Liang, Yan; Pan, Hai‐Feng; Chen, Mao; Ye, D.-Q.

doi:10.1111/jdv.12435

Cited by 27 publications

(19 citation statements)

References 55 publications

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“…On the other hand, this study reported a negative association of IL‐4 rs2243250 with GD. This finding is in agreement with previous studies in which no association between IL‐4 rs2243250 polymorphism and GD was identified (Chen et al, ; Heward et al, ; Qiu et al, ; Shen et al, ). However, Hunt and co‐workers suggested that the IL‐4 rs2243250 polymorphism has a protective effect against the development of GD in the UK population (Hunt et al, ).…”

Section: Discussionsupporting

confidence: 93%

Association of cytokine Th2 gene polymorphisms with autoimmune thyroid diseases in Tunisian population

Mestiri

Zaaber

Inoubli

et al. 2020

Int J Immunogenetics

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Autoimmune thyroid diseases (AITD) including Graves' disease (GD) and Hashimoto's thyroiditis (HT) are complex genetic diseases. Th2 cytokines act on the development of AITD. This study was conducted on Tunisian patients with AITD to investigate the association of Th2 cytokine gene polymorphisms and haplotype combination with GD or HT risk. A total of 156 controls, 160 patients with HT and 88 patients with GD were genotyped for IL-4 rs2243250, IL-5 rs2069812, IL-6 rs1800796 and IL-13 rs1800925 polymorphisms by PCR-RFLP. The AITD risk was assessed by a logistic regression analysis using the SNP stats statistical program. False-positive report probability (FPRP) was estimated to evaluate significant findings. IL-13 rs1800925 was associated with GD, after adjustment for age and gender, in codominant, dominant and allele genetic models (p = .0072; p = .0018; p = .012, respectively). Significant association of the IL-6 rs1800796C/G genotype with GD was also detected (p = .025).Furthermore, increased risk of HT was still found for IL-13 rs1800925T allele (p = .039, OR = 1.39) and for IL-4 rs2243250T/T genotype both in codominant (p = .033, OR = 2.59) and recessive (p = .011, OR = 2.73) models after adjustment for age and gender. Interestingly, haplotype analysis performed on the IL-4, IL-5 and IL-13 genes revealed a high risk of HT with CTT haplotype (p = .008, OR = 2.12). However, the CCT haplotype is a protective factor (OR = 0.36). Patients carrying the CT haplotype with only one minor allele had a moderate risk of HT (OR = 1.56). The FPRP analysis showed that the association of IL-13 rs1800925 polymorphism with GD and HT and the association of CTT haplotype with HT were noteworthy. In conclusion, the IL-4, IL-5, IL-6 and IL-13 polymorphism may play a role in susceptibility to GD and HT in the Tunisian population. Furthermore, gene-gene interaction between the IL-4, IL-5 and IL-13 significantly increases the risk of AITD. Further studies with larger numbers of individuals are needed to confirm the results. K E Y W O R D Sautoimmune thyroid diseases, IL-13, IL-4, IL-5, IL-6, polymorphism | 295 MESTIRI ET al.

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Section: Discussionsupporting

confidence: 93%

Association of cytokine Th2 gene polymorphisms with autoimmune thyroid diseases in Tunisian population

Mestiri

Zaaber

Inoubli

et al. 2020

Int J Immunogenetics

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“…The same year, Gomes et al reported that increased expression of IL‐4 associated with the TT genotype may contribute to immune surveillance during NSCLC development in Caucasian (Gomes et al, ). Besides, many studies showed that rs2243250 were associated with genetic susceptibility to other diseases, such as asthma, rheumatoid arthritis, and multiple sclerosis (Liu, Li, & Liu, ; Qiu et al, ). In our results, we revealed that rs2243267 and rs2227284, two less studied SNPs, were also found to be associated with lung cancer in this study.…”

Section: Discussionmentioning

confidence: 99%

Association betweenIL‐4tagging single nucleotide polymorphisms and the risk of lung cancer in China

Tan¹,

Song

Yan

et al. 2019

Molec Gen & Gen Med

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Background In China, lung cancer is also the most commonly diagnosed cancer with a lower 5‐year survival rate, leading to high social burdens. Recently, many studies highlighted the importance of inflammation in the initiation and progression of cancer. The goal of this study was to investigate the association between interleukin‐4 (IL‐4, OMIM#147780) single nucleotide polymorphisms (SNPs) and lung cancer susceptibility. Methods A case‐control study was conducted in a Chinese population including 199 male patients with lung cancer and 266 healthy men. Six SNPs selected from the HapMap database were genotyped using Agena MassARRAY. Genetic models and haplotype analyses were utilized to evaluate the association between SNPs and lung cancer risk. Results In our findings, rs2243250 was associated with a decreased lung cancer risk under the log‐additive model (odds ratio, OR = 0.71, 95% confidence interval, CI = 0.51–0.97, p = 0.030), and the G/G genotype of rs2227284 conferred a negative effect; the risk of lung cancer under the codominant (OR = 0.19, 95% CI = 0.04–0.87, p = 0.040) and recessive models (OR = 0.20, 95% CI = 0.04–0.88, p = 0.012) after adjusted by age. Conclusions These data indicated potential associations between IL‐4 polymorphisms and lung cancer susceptibility. That may help to improve the understanding of the relationship between inflammation and lung cancer in the future.

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“…In Chinese RA patients, the TT and CT genotype frequencies were reported to be significantly increased compared to controls, while CC genotype frequency was significantly decreased. Accordingly, T allele was suggested to be a risk factor for RA in Chinese patients (9). Logistic regression analyses also showed that carriers of IL4 T allele (rs2243250) had a significantly increased risk for RA (28).…”

Section: Discussionmentioning

confidence: 96%

“…A further study also indicated that the promoter polymorphism may be useful for assessing RA severity, and IL4 -590 TT genotype showed a significant impact on IL-4, which showed a decreased serum level (8). The SNP IL4 -590 T/C has also been associated with an increased risk to develop RA in Chinese and European patients (9). More recently, a meta-analysis of nine studies reported that the promoter polymorphism of IL4 -590 can be used as a genetic marker for evaluating RA susceptibility and severity (10).…”

Section: Introductionmentioning

confidence: 99%

Gene Expression and Polymorphism of Interleukin-4 in a Sample of Iraqi Rheumatoid Arthritis Patients

Journal¹

2018

Baghdad Sci.J

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It was aimed to understand the interleukin-4 (IL-4) role in etio-pathogenesis of rheumatoid arthritis (RA). Two approaches were adopted. In the first one, a quantitative expression of IL4 gene was assessed by reverse transcription-quantitative polymerase chain reaction (RT-qPCR), and such findings were correlated with some demographic, clinical and laboratory parameters, which included gender, duration of disease, disease activity score (DAS-28), rheumatoid factors (RFs), C-reactive protein (CRP) and anti-cyclic citrullinated peptide (ACCP) antibodies. In the second approach, a single nucleotide polymorphism (SNP) of IL4 gene (rs2243250) was inspected by DNA sequencing using specific primers. Fifty-one Iraqi RA patients (22 males and 29 females) were enrolled in the study. They were under therapy, which was a single weekly subcutaneous dose of 25 mg of etanercept (Enbrel) for a period of 3-5 years. The results of gene expression (2-??Ct) revealed an increased expression of IL4 mRNA (Mean ± SEM: 8.247 ± 2.442), especially female patients compared to male patients (11.545 ± 3.928 vs. 3.537 ± 1.530; p = 0.03). The expression was also subjected to variations that were related to clinical and laboratory findings. With respect to IL4 gene SNP, allele and genotype frequencies showed no significant differences between RA patients and controls. In addition, the SNP genotypes had no effect on IL4 gene expression. In conclusion, an up-regulation of IL4 gene expression was observed in RA patients, and it was more pronounced in female than male patients by approximately four folds, while no association between the IL4 SNP alleles or genotypes and RA was observed.

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Relationship between the IL‐4 gene promoter ‐590C/T (rs2243250) polymorphism and susceptibility to autoimmune diseases: a meta‐analysis

Abstract: The present study suggests that the IL-4 rs2243250 polymorphism might be associated with genetic susceptibility to autoimmune diseases, including RA and MS.

Cited by 27 publications

References 55 publications

Association of cytokine Th2 gene polymorphisms with autoimmune thyroid diseases in Tunisian population

Association of cytokine Th2 gene polymorphisms with autoimmune thyroid diseases in Tunisian population

Association betweenIL‐4tagging single nucleotide polymorphisms and the risk of lung cancer in China

Gene Expression and Polymorphism of Interleukin-4 in a Sample of Iraqi Rheumatoid Arthritis Patients

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