Association of β-defensin copy number and psoriasis in three cohorts of European origin

A single previous study has demonstrated significant association of psoriasis with copy number of beta-defensin genes, using DNA from psoriasis cases and controls from Nijmegen and Erlangen. In this study we attempted to replicate that finding in larger new cohorts from Erlangen (N = 2017) and Michi...

Full description

Bibliographic Details
Main Authors:	Stuart, Philip E, Hüffmeier, Ulrike, Nair, Rajan P, Palla, Raquel, Tejasvi, Trilokraj, Schalkwijk, Joost, Elder, James T, Reis, Andre, Armour, John AL
Format:	Online
Language:	English
Published:	2012
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3447111/

id	pubmed-3447111
recordtype	oai_dc
spelling	pubmed-34471112013-04-01 Association of β-defensin copy number and psoriasis in three cohorts of European origin Stuart, Philip E Hüffmeier, Ulrike Nair, Rajan P Palla, Raquel Tejasvi, Trilokraj Schalkwijk, Joost Elder, James T Reis, Andre Armour, John AL Article A single previous study has demonstrated significant association of psoriasis with copy number of beta-defensin genes, using DNA from psoriasis cases and controls from Nijmegen and Erlangen. In this study we attempted to replicate that finding in larger new cohorts from Erlangen (N = 2017) and Michigan (N = 5412), using improved methods for beta-defensin copy number determination based on the paralog ratio test (PRT), and enhanced methods of analysis and association testing implemented in the CNVtools resource. We demonstrate that the association with psoriasis found in the discovery sample is maintained after applying improved typing and analysis methods (p = 5.5 × 10−4, OR = 1.25). We also find that the association is replicated in 2616 cases and 2526 controls from Michigan, although at reduced significance (p = 0.014), but not in new samples from Erlangen (1396 cases and 621 controls, p = 0.38). Meta-analysis across all cohorts suggests a nominally significant association (p = 6.6 × 10−3/2 × 10−4) with an effect size (OR = 1.081) much lower than found in the discovery study (OR = 1.32). This reduced effect size and significance on replication is consistent with a genuine but weak association. 2012-06-28 2012-10 /pmc/articles/PMC3447111/ /pubmed/22739795 http://dx.doi.org/10.1038/jid.2012.191 Text en http://www.nature.com/authors/editorial_policies/license.html#terms Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:http://www.nature.com/authors/editorial_policies/license.html#terms
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	Stuart, Philip E Hüffmeier, Ulrike Nair, Rajan P Palla, Raquel Tejasvi, Trilokraj Schalkwijk, Joost Elder, James T Reis, Andre Armour, John AL
spellingShingle	Stuart, Philip E Hüffmeier, Ulrike Nair, Rajan P Palla, Raquel Tejasvi, Trilokraj Schalkwijk, Joost Elder, James T Reis, Andre Armour, John AL Association of β-defensin copy number and psoriasis in three cohorts of European origin
author_facet	Stuart, Philip E Hüffmeier, Ulrike Nair, Rajan P Palla, Raquel Tejasvi, Trilokraj Schalkwijk, Joost Elder, James T Reis, Andre Armour, John AL
author_sort	Stuart, Philip E
title	Association of β-defensin copy number and psoriasis in three cohorts of European origin
title_short	Association of β-defensin copy number and psoriasis in three cohorts of European origin
title_full	Association of β-defensin copy number and psoriasis in three cohorts of European origin
title_fullStr	Association of β-defensin copy number and psoriasis in three cohorts of European origin
title_full_unstemmed	Association of β-defensin copy number and psoriasis in three cohorts of European origin
title_sort	association of β-defensin copy number and psoriasis in three cohorts of european origin
description	A single previous study has demonstrated significant association of psoriasis with copy number of beta-defensin genes, using DNA from psoriasis cases and controls from Nijmegen and Erlangen. In this study we attempted to replicate that finding in larger new cohorts from Erlangen (N = 2017) and Michigan (N = 5412), using improved methods for beta-defensin copy number determination based on the paralog ratio test (PRT), and enhanced methods of analysis and association testing implemented in the CNVtools resource. We demonstrate that the association with psoriasis found in the discovery sample is maintained after applying improved typing and analysis methods (p = 5.5 × 10−4, OR = 1.25). We also find that the association is replicated in 2616 cases and 2526 controls from Michigan, although at reduced significance (p = 0.014), but not in new samples from Erlangen (1396 cases and 621 controls, p = 0.38). Meta-analysis across all cohorts suggests a nominally significant association (p = 6.6 × 10−3/2 × 10−4) with an effect size (OR = 1.081) much lower than found in the discovery study (OR = 1.32). This reduced effect size and significance on replication is consistent with a genuine but weak association.
publishDate	2012
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3447111/
_version_	1611910390758768640

Association of β-defensin copy number and psoriasis in three cohorts of European origin

Similar Items