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.
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.
Authors: H Wu; I Romieu; J-J Sienra-Monge; B E del Rio-Navarro; L Burdett; J Yuenger; H Li; S J Chanock; S J London Journal: Genes Immun Date: 2008-03-13 Impact factor: 2.676
Authors: Gerard H Koppelman; Deborah A Meyers; Timothy D Howard; S Lilly Zheng; Greg A Hawkins; Elizabeth J Ampleford; Jianfeng Xu; Henk Koning; Marcel Bruinenberg; Ilja M Nolte; Cleo C van Diemen; H Marike Boezen; Wim Timens; Paul A Whittaker; O Colin Stine; Sheila J Barton; John W Holloway; Stephen T Holgate; Penelope E Graves; Fernando D Martinez; Antoon J van Oosterhout; Eugene R Bleecker; Dirkje S Postma Journal: Am J Respir Crit Care Med Date: 2009-09-03 Impact factor: 21.405
Authors: Martin C Wapenaar; Alienke J Monsuur; Jos Poell; Ruben van 't Slot; Jos W R Meijer; Gerrit A Meijer; Chris J Mulder; Maria Luisa Mearin; Cisca Wijmenga Journal: Immunogenetics Date: 2007-02-27 Impact factor: 2.846
Authors: Pauline C Ng; Samuel Levy; Jiaqi Huang; Timothy B Stockwell; Brian P Walenz; Kelvin Li; Nelson Axelrod; Dana A Busam; Robert L Strausberg; J Craig Venter Journal: PLoS Genet Date: 2008-08-15 Impact factor: 5.917