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

Chu, Xun; Dong, Chaoling; Rong, Lei; Sun, Linyun; Wang, Z.; Dong, Yan; Shen, Min; Wang, Y.; Wang, B.; Zhang, K.; Yang, Lin; Li, Y.; Wen, Yuan; Song, Hwangjun; Jin, Li; Xiong, Momiao; Huang, Wei

doi:10.1038/gene.2009.3

Cited by 15 publications

(7 citation statements)

References 34 publications

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“…For instance, Chu reported that a non-synonymous single-nucleotide polymorphism rs40401 (P27S) of the interleukin 3 ( IL3 ) gene was associated with increased risk of GD [36]; Guo found the rs568408 polymorphism in the interleukin-12 ( IL-12 ) gene was also associated with increased risk of GD [37]. In addition, polymorphisms in the ADRB2 gene [3], interleukin-10 ( IL-10 ) gene [38], TNF-α gene [39] were also found to be associated with GD in Chinese population.…”

Section: Discussionmentioning

confidence: 99%

The associations between the polymorphisms in the CTLA-4gene and the risk of Graves’ disease in the Chinese population

Yang

Huang

et al. 2013

BMC Med Genet

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BackgroundThe associations between the polymorphisms in Cytotoxic T lymphocyte-associated molecule-4 (CTLA-4) gene and Graves’ disease (GD) have been extensively investigated in Chinese population. However, the results were inconsistent. The objective of this study is to investigate the associations between the polymorphisms in CTLA-4 gene and the risk of GD by meta-analysis.MethodsWe searched Pubmed database, Medline (Ovid) database, CNKI database and Wanfang database, covering all studies until August 11, 2012. Statistical analysis was performed by using the Revman4.2 software and the Stata10.0 software.ResultsA total of 28 case–control studies concerning the most widely studied three polymorphisms [+49A/G(rs231775), -318C/T(rs5742909) and CT60(rs3087243)] for Chinese population in 21 publications were included. The results suggested that the G allele carriers (GG+GA) might have an increased risk of GD when compared with the AA homozygote carriers for the +49A/G polymorphism (GG+GA vs. AA: OR = 2.57, 95%CI = 1.87-3.52). However, as to the -318C/T polymorphism and CT60 polymorphism, the results indicated that the variant allele carriers might have decreased risks of GD when compared with the homozygote carriers (−318C/T: TT+TC vs. CC: OR = 0.78, 95%CI = 0.62-0.97; CT60: AA+AG vs. GG: OR = 0.64, 95%CI = 0.52-0.78).ConclusionsThe current meta-analysis indicated that the polymorphisms in the CLTA-4 gene might be risk factors for GD in the Chinese population. In future, more large-scale case–control studies are needed to validate these results.

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Section: Discussionmentioning

confidence: 99%

The associations between the polymorphisms in the CTLA-4gene and the risk of Graves’ disease in the Chinese population

Yang

Huang

et al. 2013

BMC Med Genet

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“…Among the above-mentioned loci, the most promising results have been obtained for marker rs40401 and its perfect proxy single nucleotide polymorphism (SNP) rs31480 (both located in the IL-3 gene), whose association with GD was found in three independent Chinese population samples (Chu et al 2009a;Zhu et al 2010). Association between marker rs31480 of IL-3 and GD was not confirmed in a recent well-powered study of British Caucasians (Simmonds et al 2010).…”

Section: Introductionmentioning

confidence: 93%

“…To explain the association of the region 5q31-33 with Graves' disease (GD), an autoimmune hyperthyroidism, several positional candidates were considered, including interleukin 3 (IL-3) (Chu et al 2009a;Zhu et al 2010), IL-4 (Heward et al 2001;Nakkuntod et al 2004;Yang et al 2005), IL-5 (Zhu et al 2010), IL-9 (Zhu et al 2010), IL-12B (Ikeda et al 2004), IL-13 (Yang et al 2005;Chong et al 2008;Zhu et al 2010), beta-2-adrenergic receptor (ADRB2) (Jazdzewski et al 2007;Chu et al 2009b), and interferon regulatory factor 1 (IRF1) (Yang et al 2005). The association analyses showed inconsistent results, likely due to the lack of genetic power because most of the population studies had a small sample size not exceeding a total of 1,000 cases and controls.…”

Section: Introductionmentioning

confidence: 99%

The −112G > A polymorphism of the secretoglobin 3A2 (SCGB3A2) gene encoding uteroglobin-related protein 1 (UGRP1) increases risk for the development of Graves’ disease in subsets of patients with elevated levels of immunoglobulin E

et al. 2010

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The human secretoglobin 3A2 (SCGB3A2) gene encoding secretory uteroglobin-related protein 1 (UGRP1) resides on the chromosome region 5q31-33 that harbors a susceptibility locus to several autoimmune and inflammatory diseases, including asthma and Graves' disease (GD). Recently, association between the marker rs1368408 (-112G >A), located in the promoter region of the SCGB3A2 gene, and susceptibility to GD was found in Chinese and UK Caucasians. The study aim was to evaluate whether this polymorphism confers GD susceptibility in a large population cohort comprising 1,474 Russian GD patients and 1,619 controls. The marker rs1368408 was studied using a TaqMan allele discrimination assay. Serum levels of UGRP1 and immunoglobulin E (IgE) were assessed using enzyme-linked immunosorbent assay (ELISA) analyses. Association between the allele A of SCGB3A2 and a higher risk of GD (odds ratio [OR] = 1.33, P = 2.9 × 10(-5)) was shown. Both affected and non-affected carriers of the higher risk genotype A/A had significantly decreased levels of serum UGRP1 compared to the subjects homozygous for G/G (93 ± 37 pg/ml vs. 132 ± 45 pg/ml, P = 0.0011 for GD patients; 77 ± 28 pg/ml vs. 119 ± 33 pg/ml, P = 0.0019 for controls). Serum IgE levels were significantly higher in non-affected subjects homozygous for A/A compared to control individuals homozygous for G/G (153 ± 46 IU/ml vs. 122 ± 40 IU/ml, P = 0.0095). Our data suggest that the carriage of the SCGB3A2 -112A/A variant increases the risk for GD in subsets of patients with elevated levels of IgE, a hallmark of allergic asthma. Therefore, the SCGB3A2 -112G >A polymorphism may be considered as a likely marker linking susceptibility to allergy/asthma and GD on chromosome 5q31-33.

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“…Notably, out of these, variants in IL3 [170,171], IL5 [171] and ADRB2 [172,173] were all associated with GD. …”

Section: Genes Predisposing To Gdmentioning

confidence: 99%

The Genetic Basis of Graves Disease

Płoski

Szymański²,

Bednarczuk

2011

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The presented comprehensive review of current knowledge about genetic factors predisposing to Graves’ disease (GD) put emphasis on functional significance of observed associations. In particular, we discuss recent efforts aimed at refining diseases associations found within the HLA complex and implicating HLA class I as well as HLA-DPB1 loci. We summarize data regarding non-HLA genes such as PTPN22, CTLA4, CD40, TSHR and TG which have been extensively studied in respect to their role in GD. We review recent findings implicating variants of FCRL3 (gene for FC receptor-like-3 protein), SCGB3A2 (gene for secretory uteroglobin-related protein 1- UGRP1) as well as other unverified possible candidate genes for GD selected through their documented association with type 1 diabetes mellitus: Tenr–IL2–IL21, CAPSL (encoding calcyphosine-like protein), IFIH1(gene for interferon-induced helicase C domain 1), AFF3, CD226 and PTPN2. We also review reports on association of skewed X chromosome inactivation and fetal microchimerism with GD. Finally we discuss issues of genotype-phenotype correlations in GD.

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

Cited by 15 publications

References 34 publications

The associations between the polymorphisms in the CTLA-4gene and the risk of Graves’ disease in the Chinese population

The associations between the polymorphisms in the CTLA-4gene and the risk of Graves’ disease in the Chinese population

The −112G > A polymorphism of the secretoglobin 3A2 (SCGB3A2) gene encoding uteroglobin-related protein 1 (UGRP1) increases risk for the development of Graves’ disease in subsets of patients with elevated levels of immunoglobulin E

The Genetic Basis of Graves Disease

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