BACKGROUND : IL-4 by binding to its receptor (IL-4R) is essential for the development of airway inflammation present in asthma, through the induction of IgE synthesis in B cells and differentiation of T cells to a Th2 phenotype. OBJECTIVE : To investigate the role of four common polymorphisms in the IL-4 (IL4-34CT and IL4-589CT) and IL-4Ralpha chain (IL4RAI50V and IL4RAQ576R) genes in conferring susceptibility to the development of atopy and/or asthma. METHODS : Two polymorphisms in the IL-4 gene promoter, IL4-34CT and IL4-589CT, and two polymorphisms in the IL-4Ralpha chain gene, IL4RAI50V and IL4RAQ576R, have been genotyped using PCR-based methods in 341 asthmatic families and in 184 non-asthmatic adults recruited from the south of England. RESULTS : Case-control analysis did not reveal differences in the distribution of the four polymorphisms between asthmatics and controls. However, the transmission disequilibrium test showed that the IL4-589 T allele was preferentially transmitted to asthmatic children (P=0.036) and that the IL4RAQ576 was preferentially transmitted to children with atopic asthma (P=0.018). Haplotype analysis showed a strong association between the IL4-34T/-589T haplotype and asthma per se (P=0.041), and a strong association between the IL4RA I50/Q576 haplotype and atopic asthma (P=0.006). CONCLUSION : Our data suggest that polymorphisms in the IL-4 and IL-4Ralpha chain genes might play a role both conferring susceptibility to and modulating severity of atopy and asthma.

Polymorphisms in the Interleukin-4 (IL-4) and in interleukin 4 receptor alpha chain (IL-4Ralpha ) genes confer susceptibility to asthma and atopy in a Caucasian population / Beghe', Bianca; S., Barton; S., Rorke; Q., Peng; I., Sayers; T., Gaunt; T. P., Keith; J. B., Clough; S. T., Holgate; J. W., Holloway. - In: CLINICAL AND EXPERIMENTAL ALLERGY. - ISSN 0954-7894. - ELETTRONICO. - 33:(2003), pp. 1111-1117.

Polymorphisms in the Interleukin-4 (IL-4) and in interleukin 4 receptor alpha chain (IL-4Ralpha ) genes confer susceptibility to asthma and atopy in a Caucasian population.

BEGHE', Bianca;
2003-01-01

Abstract

BACKGROUND : IL-4 by binding to its receptor (IL-4R) is essential for the development of airway inflammation present in asthma, through the induction of IgE synthesis in B cells and differentiation of T cells to a Th2 phenotype. OBJECTIVE : To investigate the role of four common polymorphisms in the IL-4 (IL4-34CT and IL4-589CT) and IL-4Ralpha chain (IL4RAI50V and IL4RAQ576R) genes in conferring susceptibility to the development of atopy and/or asthma. METHODS : Two polymorphisms in the IL-4 gene promoter, IL4-34CT and IL4-589CT, and two polymorphisms in the IL-4Ralpha chain gene, IL4RAI50V and IL4RAQ576R, have been genotyped using PCR-based methods in 341 asthmatic families and in 184 non-asthmatic adults recruited from the south of England. RESULTS : Case-control analysis did not reveal differences in the distribution of the four polymorphisms between asthmatics and controls. However, the transmission disequilibrium test showed that the IL4-589 T allele was preferentially transmitted to asthmatic children (P=0.036) and that the IL4RAQ576 was preferentially transmitted to children with atopic asthma (P=0.018). Haplotype analysis showed a strong association between the IL4-34T/-589T haplotype and asthma per se (P=0.041), and a strong association between the IL4RA I50/Q576 haplotype and atopic asthma (P=0.006). CONCLUSION : Our data suggest that polymorphisms in the IL-4 and IL-4Ralpha chain genes might play a role both conferring susceptibility to and modulating severity of atopy and asthma.
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1117
Polymorphisms in the Interleukin-4 (IL-4) and in interleukin 4 receptor alpha chain (IL-4Ralpha ) genes confer susceptibility to asthma and atopy in a Caucasian population / Beghe', Bianca; S., Barton; S., Rorke; Q., Peng; I., Sayers; T., Gaunt; T. P., Keith; J. B., Clough; S. T., Holgate; J. W., Holloway. - In: CLINICAL AND EXPERIMENTAL ALLERGY. - ISSN 0954-7894. - ELETTRONICO. - 33:(2003), pp. 1111-1117.
Beghe', Bianca; S., Barton; S., Rorke; Q., Peng; I., Sayers; T., Gaunt; T. P., Keith; J. B., Clough; S. T., Holgate; J. W., Holloway
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/613040
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