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Polymorphisms of the GM-CSF Genes and the Development of Atopic Diseases in At-Risk Children* FREE TO VIEW

Jian-Qing He, MD; Jian Ruan, MD, PhD; Moira Chan-Yeung, MD; Allan B. Becker, MD; Helen Dimich-Ward, MD; Peter D. Paré, MD; Andrew J. Sandford, PhD
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*From UBC McDonald Research Laboratories/iCAPTURE Center (Drs. He, Ruan, Paré, and Sanford), St. Paul's Hospital, Vancouver, BC; and Occupational and Environmental Lung Diseases Unit (Drs. Chan-Yeung, Becker, and Dimich-Ward), Department of Medicine, University of British Columbia, Vancouver, BC, Canada.

Correspondence to: Jian-Qing He, MD, UBC McDonald Research Laboratories/iCAPTURE Center, St. Paul's Hospital, 1081 Burrard St, Vancouver, BC, Canada V6Z 1Y6; e-mail: jhe@mrl.ubc.ca

Chest. 2003;123(3_suppl):438S. doi:10.1378/chest.123.3_suppl.438S
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Genomic scans have identified a strong linkage of a region on chromosome 5q31 with atopy and atopic diseases in different populations. The GM-CSF gene is located in this region and has been shown to be important in the allergic response. One case-control study showed that the Ile117Thr (3928C/T) polymorphism of the GM-CSF gene is associated with atopic asthma. Our objective was determine the predictive values of polymorphisms in the GM-CSF gene for the development of atopy and atopic diseases.

We assessed the prevalence of “probable” asthma, allergic rhinitis, atopic dermatitis, and positive skin test (atopy) among genotype groups of GM-CSF 545G/A, 3606T/C, and 3928 C/T polymorphisms in a cohort of 370 children at high risk for atopy and atopic diseases. The homozygous GM-CSF 545AA genotype was associated with asthma at 12 months (relative risk [RR] = 3.4, p = 0.021). The GM-CSF genotypes containing 3606T were associated with dermatitis at 12 months (RR = 2.5, p = 0.037) and 24 months (RR = 2.5, p = 0.009). The homozygous GM-CSF 3606 TT genotype was associated with atopy at 12 months (RR = 3.89, p = 0.002). The homozygous GM-CSF 3928 CC was associated with dermatitis at 12 months (RR = 6.1, p = 0.0002); the GM-CSF genotypes containing 3928C were associated with dermatitis at 24 months (RR = 2.0, p = 0.049). Our data suggest that GM-CSF 545A, 3606T, and 3928C alleles are risk factors for the development of atopy and atopic diseases.

Abbreviation: RR = relative risk

This study was supported by grant from the Canadian Institutes of Health Research.




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