Abstract
Background: Asthma and allergic phenotypes are complex genetic diseases with known linkage to chromosome 5q. This region has many candidate genes, including serine protease inhibitor Kazal type 5 (SPINK5), which has been associated with asthma and atopic dermatitis in family-based studies of children with atopic dermatitis. Objective: We sought to investigate whether single nucleotide polymorphisms in SPINK5 are associated with asthma, atopic phenotypes, and atopic dermatitis. Methods: We investigated whether single nucleotide polymorphisms in SPINK5 (ie, -785 A/G, Asn368Ser, and Lys420Glu) are associated with asthma, atopic phenotypes, and atopic dermatitis in 200 families ascertained by a proband with asthma (nonaffected spouses served as a matched control population) and an independent set of 252 trios with asthma. Results: We found no association with asthma, atopic phenotypes, and atopic dermatitis after correction for multiple testing. Conclusion: The negative results in this study suggest that SPINK5 is not associated with asthma or atopic phenotypes in individuals ascertained by a proband with asthma. This is consistent with the finding that SPINK5 is not expressed in the lung. Because our patients were ascertained for asthma, a role of SPINK5 in atopic dermatitis cannot be excluded.
Original language | English (US) |
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Pages (from-to) | 486-492 |
Number of pages | 7 |
Journal | Journal of Allergy and Clinical Immunology |
Volume | 115 |
Issue number | 3 |
DOIs | |
State | Published - Mar 2005 |
Externally published | Yes |
Keywords
- Allergy
- Asthma
- Atopic dermatitis
- Polymorphism
- SPINK5
ASJC Scopus subject areas
- Immunology and Allergy
- Immunology