Novel dinucleotide repeat polymorphism in the first exon of the STAT‐6 gene is associated with allergic diseases

• DOI: 10.1046/j.1365-2222.2001.01191.x
• Publication Date: 2003-03-11T09:45:19Z
• Authors: K. Tamura; H. Arakawa; M. Suzuki; Y. Kobayashi; H. Mochizuki; M. Kato; K. Tokuyama; A. Morikawa
• Keywords: Atopy; Single-strand conformation polymorphism

Background T helper‐type 2 cytokines, such as interleukin‐4 (IL‐4) and IL‐13, may play a central role in allergic diseases. The protein known ‘signal transducers activators of transcription 6’ (STAT‐6) is key factor involved both IL‐4‐ IL‐13‐mediated biological responses. Objective objective this study was to evaluate the possible STAT‐6 gene modulating atopy Japanese population. Methods We screened all 23 exons from 10 subjects for mutations by direct polymerase chain reaction (PCR) sequencing. polymorphisms were genotyped PCR fragment length polymorphism analysis PCR‐SSCP analysis. IL‐4 receptor Q576R also examined Results found novel dinucleotide repeat first exon gene. genotypes classified into four groups according number GT repeats present, 13 16. frequency A1 allele (326 bp, containing GT) higher children with diseases (bronchial asthma, atopic dermatitis and/or food‐related anaphylaxis) than controls, although not statistically significant ( P = 0.0158). In addition, strong association between A3 (containing 15 heterozygote identified 0.0002). However, levels IgE related subjects. associated receptorachain (Q576R) there no G2964A variant Conclusion This suggests that genetic variation be predisposition