Cytokine promoter polymorphisms in Taiwanese patients with Graves' disease

Shiau, Ming Yuh; Huang, Cheng‐Yi; Yang, Tzi Peng; Hwang, Yi Ching; Tsai, Kan Jen; Ju, Chieh; Chang, Yih Hsin

doi:10.1016/j.clinbiochem.2006.11.009

Cited by 31 publications

(26 citation statements)

References 25 publications

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“…We are aware of only one study on the association between GD and the IL-4 -33C/T polymorphism. The study was carried out in Taiwan, and no association was found [12]. Our study is the first to suggest that the T allele is associated with GD.…”

Section: Discussioncontrasting

confidence: 46%

“…On the other hand, the association between GD and polymorphisms in IL-4, IL-10 and TGF-b genes has been the focus of little attention. No association was found for the IL-4 -590T/C polymorphism in two studies in the UK and Taiwan [11,12]. However, another study demonstrated a significantly higher frequency of the -590T allele among controls in the United Kingdom [13].…”

Section: Discussionmentioning

confidence: 80%

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Gene polymorphisms of interleukin-4, interleukin-10 and transforming growth factor-beta in Graves’ disease

et al. 2009

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Among genetic factors that may contribute to the development and progression of Graves' disease (GD) and its complications are polymorphisms in the genes encoding cytokines. The association between GD and the following polymorphisms in anti-inflammatory cytokines was studied in 107 patients with GD and 140 healthy controls: IL-4 (-1098T/G, -590T/C, -33C/T), IL-10 (-1082A/G, -819C/T, -592C/A) and TGF-beta (+869T/C, +915G/C). The following alleles and genotypes were significantly (P < 0.01 after correction for multiple testing) more frequent among patients: the IL-4 -1098G allele and GG genotype (OR = 3.12 and 105.00, respectively), IL-4 -33T allele and TT genotype (OR = 2.52 and 118.83, respectively), IL-10 -1082G allele and GG genotype (OR = 2.16 and 6.40, respectively), IL-10 -819T allele, TC and TT genotype (OR = 2.60, 3.68 and 6.76, respectively), IL-10 -592A allele, AC and AA genotype (OR = 2.41, 2.89 and 5.68, respectively), TGF-beta +869C allele and CC genotype (OR = 2.24 and 6.21, respectively), and TGF-beta +915C allele, CG and CC genotype (OR = 7.81, 11.80 and 20.40, respectively). The only allele and genotype with a lower frequency in patients were IL-4 -590T allele and TC genotype (OR = 0.47 and 0.08, respectively; P < 0.01). In conclusion, this study highlighted the importance of anti-inflammatory cytokine gene polymorphisms in susceptibility to GD.

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Section: Discussioncontrasting

confidence: 46%

Section: Discussionmentioning

confidence: 80%

Gene polymorphisms of interleukin-4, interleukin-10 and transforming growth factor-beta in Graves’ disease

et al. 2009

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“…Single nucleotide polymorphisms (SNPs) of inflammatory cytokines may change the transcription rate and consequently the production of cytokines (Dominici et al 2002, Wen et al 2006, Prasad et al 2010, and thus may modify individual susceptibility to AITDs. Various cytokines and respective genetic polymorphisms have been reported to be associated with AITD, but the results are inconsistent (Chen et al 2005, Shiau et al 2006, Anvari et al 2010, Liu et al 2010, Yan et al 2012.…”

Section: Introductionmentioning

confidence: 99%

Polymorphism of IL37 gene as a protective factor for autoimmune thyroid disease

Ni¹,

Meng²,

Song³

et al. 2015

Journal of Molecular Endocrinology

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Autoimmune thyroid disease (AITD) comprises Graves' disease (GD) and Hashimoto's thyroiditis (HT). IL37 has been recently proved to be a natural suppressor for innate immunity and acquired immunity. Therefore, this study was conducted to identify the association of IL37 genetic polymorphisms with AITD in Chinese Han population. Polymorphisms of rs3811046/rs3811047/rs2723176/rs272186 in the IL37 gene were assessed in a case-control study comprising 701 GD patients, 301 HT patients and 939 controls. Genetic variants were genotyped by multiplex polymerase chain reaction and ligase detection reaction. The frequencies of the minor allele A of rs2723176 and A of rs2723186 were significantly lower in the GD patients than in the controls (PZ0.014, ORZ0.774; PZ0.014, ORZ0.777). After gender stratification, the rs3811046 G allele and the rs3811047/rs2723186 A allele were both significantly associated with a decreased risk of GD in female patients (PZ0.030, ORZ0.777; PZ0.023, ORZ0.774; PZ0.029, ORZ0.761). However, none of the four single nucleotide polymorphisms of IL37 gene showed any significant association with HT. Moreover, haplotype analysis revealed the GCG haplotype conferred increased risk for GD as a whole and in female GD patients (ORZ1.213; ORZ1.320). The ACG haplotype was associated with an increased risk of HT as a whole (ORZ1.567) and in male GD patients (ORZ1.820). In contrast, the AAA haplotype showed a protective role for GD as a whole (ORZ0.760) and in female GD patients (ORZ0.765). Our study strongly supports that the IL37 gene variants are associated with the susceptibility to AITD.

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“…6,7 The IL4 gene promoter polymorphism rs2070874 (C-589T), was reported to be associated with GD from the data of a relatively small Caucasian cohort (n ¼ 236), 6 but was never confirmed through replication in the Asian population. [26][27][28][29] Similarly, claim of association was made for polymorphisms of the IL13 gene (rs1800925, C-1112T and rs20541, G2044A) in a Japanese study, 7 but not in others. 27,[30][31][32] We did not find evidence of association with GD for these three polymorphisms in our south Han Chinese cohort (Supplementary Table 1).…”

Section: Discussionmentioning

confidence: 98%

Polymorphisms in the interleukin 3 gene show strong association with susceptibility to Graves’ disease in Chinese population

et al. 2009

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Graves' disease (GD) is a common organ-specific autoimmune disorder, which is multifactorial and develops in genetically susceptible individuals. We had earlier mapped a susceptibility locus for GD to chromosome 5q31-33 in a linkage study. Here we used tag single-nucleotide polymorphisms (SNPs) to search for genetic variants associated with GD, and examined 19 functional candidate genes in this chromosomal region. We identified 192 polymorphisms by re-sequencing the candidate genes, and selected 51 tagSNPs to genotype in a case-control collection of 1118 south Han Chinese subjects (428 cases and 690 controls). Initial analysis suggested that a non-synonymous SNP rs40401 (P27S) of interleukin 3 (IL3) was associated with GD, and further fine-mapping showed that rs40401, or its perfect proxy SNP rs31480 in the 5 0 flanking region of IL3, fully accounted for the association signal at this locus. We replicated significant association of rs40401 with GD in an independent sample collection of 839 north Han Chinese subjects. A combined analysis revealed strong validation of this association (odds ratio (OR common ) ¼ 1.63, combined P (P comb ) ¼ 4 Â 10 À6 in the Recessive disease model). This study provides convincing evidence that the IL3 gene is a susceptibility locus for GD in the Chinese population.

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Cytokine promoter polymorphisms in Taiwanese patients with Graves' disease

Cited by 31 publications

References 25 publications

Gene polymorphisms of interleukin-4, interleukin-10 and transforming growth factor-beta in Graves’ disease

Gene polymorphisms of interleukin-4, interleukin-10 and transforming growth factor-beta in Graves’ disease

Polymorphism of IL37 gene as a protective factor for autoimmune thyroid disease

Polymorphisms in the interleukin 3 gene show strong association with susceptibility to Graves’ disease in Chinese population

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