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

Citation
K. Tamura et al., Novel dinucleotide repeat polymorphism in the first exon of the STAT-6 gene is associated with allergic diseases, CLIN EXP AL, 31(10), 2001, pp. 1509-1514
Citations number
24
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Clinical Immunolgy & Infectious Disease",Immunology
Journal title
CLINICAL AND EXPERIMENTAL ALLERGY
ISSN journal
0954-7894 → ACNP
Volume
31
Issue
10
Year of publication
2001
Pages
1509 - 1514
Database
ISI
SICI code
0954-7894(200110)31:10<1509:NDRPIT>2.0.ZU;2-Q
Abstract
Background T helper-type 2 cytokines, such as interleukin-4 (IL-4) and IL-1 3, may play a central role in allergic diseases. The protein known as 'sign al transducers and activators of transcription 6' (STAT-6) is a key transcr iption factor involved in both IL-4- and IL-13-mediated biological response s. Objective The objective of this study was to evaluate the possible role of the STAT-6 gene in modulating atopy in the Japanese population. Methods We screened all 23 exons of the STAT-6 gene from 10 subjects for mu tations by direct polymerase chain reaction (PCR) sequencing. The STAT-6 ge ne polymorphisms were genotyped by PCR fragment length polymorphism analysi s and PCR-SSCP analysis. The IL-4 receptor Q576R polymorphism was also exam ined by PCR-SSCP analysis. Results We found a novel dinucleotide repeat polymorphism in the first exon of the STAT-6 gene. The genotypes were classified into four groups accordi ng to the number of GT repeats present, from 13 to 16. The frequency of the A1 allele (326 bp, containing 13 repeats of GT) was higher in children wit h allergic diseases (bronchial asthma, atopic dermatitis and/or food-relate d anaphylaxis) than controls, although this was not statistically significa nt (P = 0.0158). In addition, a strong association between the A1 and A3 al lele (containing 15 repeats of GT) heterozygote and allergic diseases was i dentified (P = 0.0002). However, the levels of IgE were not related to the GT repeat polymorphism in the allergic subjects. The GT repeat polymorphism was not associated with the polymorphism in the IL-4 receptorachain gene ( Q576R) and there was no association between the G2964A variant and allergic diseases. Conclusion This suggests that genetic variation in the STAT-6 gene may be a ssociated with predisposition to allergic diseases.