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Abstract

Asthma is a manifestation of bronchial hyperreactivity (BHR) and forms part of the spectrum of atopic diease. Some pedigree studies of atopy have suggested linkage with the high-affinity IgE receptor (Fc∈ Rlβ) gene on chromosome 11q13, but others find no linkage. The molecular genetics of asthma and BHR have not been studied in the general population.

We examined the genetic linkage of the Fc∈ Rlβ gene with clinical asthma and the underlying phenotypes of BHR (to methacholine) and atopy (defined by skinprick testing) in 123 affected sibling-pairs recruited from the general population. We found evidence of significant linkage of a highly polymorphic microsatellite marker in the fifth intron of the Fc∈ Rlβ gene to a diagnosis of asthma (18·0% excess of shared alleles, p=0·002) and to BHR (21·7% excess of shared alleles, p=0·001). Significant linkage was also observed in siblings sharing BHR when those with atopy were excluded (32·8% excess of shared alleles, p=0·004). Atopy in the absence of BHR did not show significant linkage to the Fc∈ Rlβ gene (7·2% excess of shared alleles, p=0·124).

These findings suggest that mutations in the Fc∈ Rlβ gene or a closely linked gene influence the BHR underlying asthma, even in the absence of atopy.

Item ID:	28274
Item Type:	Article (Research - C1)
ISSN:	1474-547X
Keywords:	asthma, bronchial hyperreactivity, atopic disease, pedigree studies, linkage, IgE receptor, general population affected sibling pairs, mutations in FcE R1Beta linked to asthma even in absence of atopy
Date Deposited:	01 Aug 2013 00:47
FoR Codes:	11 MEDICAL AND HEALTH SCIENCES > 1103 Clinical Sciences > 110311 Medical Genetics (excl Cancer Genetics) @ 50% 11 MEDICAL AND HEALTH SCIENCES > 1199 Other Medical and Health Sciences > 119999 Medical and Health Sciences not elsewhere classified @ 50%
SEO Codes:	92 HEALTH > 9201 Clinical Health (Organs, Diseases and Abnormal Conditions) > 920115 Respiratory System and Diseases (incl. Asthma) @ 50% 92 HEALTH > 9201 Clinical Health (Organs, Diseases and Abnormal Conditions) > 920110 Inherited Diseases (incl. Gene Therapy) @ 50%
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