Variants of STAT6 (signal transducer and activator of transcription 6) in atopic asthma

Gao, P. S.; Mao, Xiao-Quan; Roberts, Mary Flynn; Arinobu, Yojiro; Akaiwa, Mina; Enomoto, Tadao; Dake, Yoshihiro; Kawai, Mitsuru; Sasaki, Sei; Hamasaki, Naotaka; Izuhara, Kenji; Shirakawa, Taro; Hopkin, J. M.

doi:10.1136/jmg.37.5.380a

Cited by 67 publications

(57 citation statements)

References 16 publications

(16 reference statements)

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“…Assays were performed for common genetic variants belonging to the Th-2 and Th-1 immune cytokine signalling pathway, which we had previously found to be associated with asthma in a Japanese or British population. 20,21,23,24 The loci and variants tested, the number of successful genotypes completed, the allele frequencies and heterozygosities are shown in Table 1. The genotype distributions at all loci tested matched Hardy-Weinberg equilibrium.…”

Section: Genetic Analysismentioning

confidence: 99%

“…21,22 Biological, functional and molecular modelling studies point to upregulation of Th-2 immune signalling in two of the variants tested, those in IL-13 and IL-4Ra1. 18,20,23 We reasoned that the high prevalence of such variants, which promote asthma in early life, might derive from a counterbalancing evolutionary advantage of the variants in promoting protective Th-2 immune responses against high burdens of helminth infection.…”

Section: Introductionmentioning

confidence: 99%

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An asthma-associated genetic variant of STAT6 predicts low burden of ascaris worm infestation

et al. 2004

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Section: Genetic Analysismentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

An asthma-associated genetic variant of STAT6 predicts low burden of ascaris worm infestation

et al. 2004

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“…We also investigated the 2964G/A polymorphism in the 3'-UTR that was reported to be associated with adult asthma by Gao et al (2000b) but failed to detect association in our samples (data not shown). Similar results were reported by Deutsch et al (2002).…”

Section: Discussionmentioning

confidence: 99%

“…Of these, STAT6, NOS1, and IFNG were investigated with case-control studies and showed positive association with asthma in at least one study. Gao et al (2000b) demonstrated the association of the single nucleotide polymorphism (SNP) 2964G/A of STAT6 with adult asthma in Japanese populations. However, this association was not replicated in later studies on German/Swedish (Duetsch et al 2002) or Japanese populations (Tamura et al 2001).…”

Section: Introductionmentioning

confidence: 99%

Linkage and association of childhood asthma with the chromosome 12 genes

et al. 2004

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Several studies have shown linkage of chromosome region 12q13-24 to bronchial asthma and related phenotypes in ethnically diverse populations. In the Japanese population, a genome-wide study failed to show strong evidence of linkage of this region. Chromosome 12 genes that showed association with the disease in at least one report include: the signal transducer and activator of transcription 6 gene (STAT6), the nitrogen oxide synthetase 1 gene (NOS1), the interferon c gene (IFNG), and the activation-induced cytidine deaminase gene (AICDA). To evaluate the linkage between chromosome 12 and childhood asthma in the Japanese population, we performed sib-pair linkage analysis on childhood asthma families using 18 microsatellite markers on chromosome 12. To investigate association between chromosome 12 candidate genes and asthma, distributions of alleles and genotypes of repeat polymorphisms of STAT6, NOS1, and IFNG were compared between controls and patients. Single nucleotide polymorphism of AICDA was also investigated. Chromosome region 12q24.23-q24.33 showed suggestive linkage to asthma. The NOS1 intron 2 GT repeat and STAT6 exon 1 GT repeat were associated with asthma. Neither the IFNG intron 1 CA repeat nor 465C/T of AICDA showed any association with asthma. Our results suggest that NOS1 and STAT6 are asthmasusceptibility genes and that chromosome region 12q24.23-q24.33 contains other susceptibility gene(s).

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“…Heterodimerization of type I IL-4R or type II IL-4R/IL-13R by binding of IL-4 or IL-13 activates Jak1, Jak3, or Tyk2, tyrosine kinases associated with IL-4R , common , and IL-13R 1 respectively, followed by activation of STAT6. Several SNPs on the STAT6 gene, 2964G/A, in18SNP1C/T, and GT repeat in exon1 were reported to be associated with serum IgE levels or with eosinophil numbers (43,44). …”

Section: Stat6 Genementioning

confidence: 99%