Linkage and association studies of STAT6 gene polymorphisms and allergic diseases.
BACKGROUND
Signal transducer and activator of transcription 6 (STAT6) is a key transcription factor involved in both interleukin-4 (IL-4) and IL-13-mediated biological responses, such as allergies. Recently, we reported that the polymorphism of the STAT6 gene exon 1 was associated with allergic diseases, while another group studied the G2964A variant of the STAT6 gene's association with atopic asthma. We undertook an association study between these variants of the STAT6 gene and allergic diseases, including atopic dermatitis, bronchial asthma, and food-related anaphylaxis in a Japanese population.


METHODS
STAT6 gene polymorphisms were genotyped by polymerase chain reaction (PCR) fragment length polymorphism analysis, and PCR-SSCP analysis in 106 allergic and 66 control subjects.


RESULTS
The 2964A variant was in significant linkage disequilibrium with the dinucleotide repeat polymorphism, the 13-GT repeat allele of STAT6 exon 1 (p < 0.0000000003). There was no association between the STAT6 2964A variant and allergic subjects in a Japanese population (p = 0.2724). The genotype of 13/15-GT repeat allele heterozygosity was significantly associated with allergic subjects (p = 0.0006), as previously reported. In one major genotype of the STAT6 exon 1 (15 GT repeat homozygosity), wild-type 2964G allele homozygosity was significantly associated with allergic subjects (p = 0.0382).


CONCLUSIONS
Our findings indicate that in combination the dinucleotide repeat polymorphism of the STAT6 exon 1 gene and the 2964A variant may be useful markers for predicting allergic diseases in a Japanese population.
Tamura
Kazushi
K
Department of Pediatrics, Gunma University School of Medicine, Maebashi, Gunma, Japan.
Suzuki
Michiko
M
Arakawa
Hirokazu
H
Tokuyama
Kenichi
K
Morikawa
Akihiro
A
D000483:Alleles; D000707:Anaphylaxis / Q000097:blood / Q000235:genetics / Q000276:immunology; D001249:Asthma / Q000097:blood / Q000235:genetics / Q000276:immunology; D002648:Child; D002669:Child Welfare; D002675:Child, Preschool; D003876:Dermatitis, Atopic / Q000097:blood / Q000235:genetics / Q000276:immunology; D018900:Dinucleotide Repeats / Q000235:genetics / Q000276:immunology; D005091:Exons / Q000235:genetics / Q000276:immunology; D005512:Food Hypersensitivity / Q000097:blood / Q000235:genetics / Q000276:immunology; D008040:Genetic Linkage / Q000235:genetics* / Q000276:immunology; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D006969:Hypersensitivity, Immediate / Q000097:blood / Q000235:genetics* / Q000276:immunology; D007073:Immunoglobulin E / Q000097:blood / Q000276:immunology; D007564:Japan / Q000453:epidemiology; D011110:Polymorphism, Genetic / Q000235:genetics* / Q000276:immunology; D050800:STAT6 Transcription Factor; D013223:Statistics as Topic; D015534:Trans-Activators / Q000235:genetics* / Q000276:immunology
D050800:STAT6 Transcription Factor; C494101:STAT6 protein, human; D015534:Trans-Activators; D007073:Immunoglobulin E