1. Polymorphisms in SPINK5 are not associated with asthma in a Dutch population
- Author
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Marcel Bruinenberg, Ilja M. Nolte, Gerard J. te Meerman, Hajo Jongepier, Dirkje S. Postma, Eugene R. Bleecker, Gerard H. Koppelman, Deborah A. Meyers, Faculteit Medische Wetenschappen/UMCG, Life Course Epidemiology (LCE), and Groningen Research Institute for Asthma and COPD (GRIAC)
- Subjects
Proband ,EXPRESSION ,Adult ,Male ,Allergy ,JAPANESE ,LEKTI ,Immunology ,Population ,Proteinase Inhibitory Proteins, Secretory ,Single-nucleotide polymorphism ,Polymerase Chain Reaction ,Polymorphism, Single Nucleotide ,FAMILIES ,DISEASE ,polymorphism ,Dermatitis, Atopic ,Atopy ,Gene Frequency ,immune system diseases ,medicine ,Immunology and Allergy ,ATOPIC-DERMATITIS ,Humans ,Netherton syndrome ,SERINE-PROTEASE INHIBITOR ,education ,Asthma ,Netherlands ,education.field_of_study ,atopic dermatitis ,business.industry ,MUTATIONS ,Atopic dermatitis ,Middle Aged ,medicine.disease ,SPINK-5 ,allergy ,GENE ,respiratory tract diseases ,body regions ,NETHERTON-SYNDROME ,Serine Peptidase Inhibitor Kazal-Type 5 ,Female ,business ,Carrier Proteins - 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.
- Published
- 2005