Polymorphisms in SPINK5 are not associated with asthma in a Dutch population

Hajo Jongepier, Gerard H. Koppelman, Ilja M. Nolte, Marcel Bruinenberg, Eugene R. Bleecker, Deborah A. Meyers, Gerard J. Te Meerman, Dirkje S. Postma

Research output: Contribution to journalArticlepeer-review

40 Scopus citations

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 languageEnglish (US)
Pages (from-to)486-492
Number of pages7
JournalJournal of Allergy and Clinical Immunology
Volume115
Issue number3
DOIs
StatePublished - Mar 2005
Externally publishedYes

Keywords

  • Allergy
  • Asthma
  • Atopic dermatitis
  • Polymorphism
  • SPINK5

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

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