Am. J. Respir. Crit. Care Med.,
Volume 160, Number 1, July 1999, 342-345
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gene (IL4R) reportedly is involved in the development of atopy. A recent study has shown the Ile50
allele of a polymorphism (Ile50Val) of IL4R to be associated with atopy. The objective of this study
was to replicate this association and confirm the possible role of the Ile50Val polymorphism of IL4R
in the etiology of atopic asthma in a Japanese population. We conducted a transmission disequilibrium test in 86 families identified through asthmatic children. A case-control study was also carried
out using both atopic and control subjects. The IL4R Ile50Val polymorphism was genotyped by a
PCR-restriction fragment length polymorphism method using an intronic upstream primer. The IL4R
Ile50 allele was not preferentially transmitted to atopy- or to asthma-affected children. Neither the
Ile50 allele nor the Ile50/Ile50 genotype was more prevalent in the atopic subjects than in the control subjects. Our findings indicate that the Ile50Val polymorphism of IL4R does not play a substantial role in genetic predisposition for the etiology of atopy or asthma in this Japanese population.
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  A. Q. Ford, N. M. Heller, L. Stephenson, M. R. Boothby, and A. D. Keegan An Atopy-Associated Polymorphism in the Ectodomain of the IL-4R{alpha} Chain (V50) Regulates the Persistence of STAT6 Phosphorylation J. Immunol., August 1, 2009; 183(3): 1607 - 1616. [Abstract] [Full Text] [PDF]
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L. Stephenson, M. H. Johns, E. Woodward, A. L. Mora, and M. Boothby An IL-4R{alpha} Allelic Variant, I50, Acts as a Gain-of-Function Variant Relative to V50 for Stat6, But Not Th2 Differentiation J. Immunol., October 1, 2004; 173(7): 4523 - 4528. [Abstract] [Full Text] [PDF]
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 D. S. Faffe, T. Whitehead, P. E. Moore, S. Baraldo, L. Flynt, K. Bourgeois, R. A. Panettieri, and S. A. Shore IL-13 and IL-4 promote TARC release in human airway smooth muscle cells: role of IL-4 receptor genotype Am J Physiol Lung Cell Mol Physiol, October 1, 2003; 285(4): L907 - L914. [Abstract] [Full Text] [PDF]
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 J.-Q. He, J. E. Connett, N. R. Anthonisen, and A. J. Sandford Polymorphisms in the IL13, IL13RA1, and IL4RA Genes and Rate of Decline in Lung Function in Smokers Am. J. Respir. Cell Mol. Biol., March 1, 2003; 28(3): 379 - 385. [Abstract] [Full Text] [PDF]
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 E. Nakamura, Y. Megumi, T. Kobayashi, T. Kamoto, S. Ishitoya, T. Terachi, M. Tachibana, H. Matsushiro, T. Habuchi, Y. Kakehi, et al. Genetic Polymorphisms of the Interleukin-4 Receptor{alpha} Gene Are Associated with an Increasing Risk and a Poor Prognosis of Sporadic Renal Cell Carcinoma in a Japanese Population Clin. Cancer Res., August 1, 2002; 8(8): 2620 - 2625. [Abstract] [Full Text] [PDF]
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K. A. Risma, N. Wang, R. P. Andrews, C. M. Cunningham, M. B. Ericksen, J. A. Bernstein, R. Chakraborty, and G. K. K. Hershey V75R576 IL-4 Receptor {alpha} Is Associated with Allergic Asthma and Enhanced IL-4 Receptor Function J. Immunol., August 1, 2002; 169(3): 1604 - 1610. [Abstract] [Full Text] [PDF]
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 W. O. C. Cookson Asthma Genetics Chest, March 1, 2002; 121 (2009): 7S - 13S. [Abstract] [Full Text] [PDF]
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 W. O.C. Cookson and M. F. Moffatt Genetics of asthma and allergic disease Hum. Mol. Genet., October 1, 2000; 9(16): 2359 - 2364. [Abstract] [Full Text] [PDF]
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