LETTER TO JMG

Variation in dinucleotide (GT) repeat sequence in the first exon of the STAT6 gene is associated with atopic asthma and differentially regulates the promoter activity in vitro

P S Gao¹, N M Heller¹, W Walker², C H Chen³, M Moller², B Plunkett¹, M H Roberts², R P Schleimer¹, J M Hopkin², S K Huang¹

¹ Johns Hopkins University School of Medicine, Johns Hopkins Asthma and Allergy Center, Baltimore, MD, USA
² Swansea Clinical School, University of Wales Swansea, Swansea, UK
³ Taipei Medical University, Taipei, Taiwan, Republic of China

Correspondence to:
Correspondence to:
Dr P S Gao
Johns Hopkins Asthma and Allergy Center, Room 1A62, 5501 Hopkins Bayview Circle, Baltimore, 21224, USA; pgao1@jhmi.edu

Received 16 December 2003

Accepted 27 December 2003

Keywords: dinucleotide repeats; polymorphisms; STAT6; atopic asthma; promoter activity

The first 150 words of the full text of this article appear below.

Upregulation of the IL-4/IL-13 mediated Th2 response is a characteristic of allergic diseases such as asthma, a common and often debilitating disease.¹ STAT6 is a critical signalling molecule in the Th2 signalling pathway, and mice lacking STAT6 are protected from allergic pulmonary manifestations.² The importance of STAT6 in asthma is also evident from studies showing that STAT6 gene expression is markedly upregulated in airway epithelial cells in asthma.³ STAT6 is important in the expression of VCAM-1 in endothelial cells and of chemokines, such as eotaxin, in epithelial cells following stimulation with IL-4 and IL-13.⁴ As a consequence, STAT6 has been considered a strong candidate for predisposition to atopic asthma. Indeed, the human STAT6 gene is mapped to chromosome 12q13.3–q14.1, a region linked to total serum IgE concentration and atopy in several populations.⁵ A number of common polymorphisms have been identified, including a GT repeat in exon 1 and three common . . . [Full text of this article]

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