| Literature DB >> 25108383 |
Frank Geller1, Bjarke Feenstra1, Lisbeth Carstensen1, Tune H Pers2, Iris A L M van Rooij3, Izabella Baranowska Körberg4, Shweta Choudhry5, Juha M Karjalainen6, Tine H Schnack1, Mads V Hollegaard7, Wout F J Feitz8, Nel Roeleveld9, David M Hougaard7, Joel N Hirschhorn10, Lude Franke6, Laurence S Baskin5, Agneta Nordenskjöld4, Loes F M van der Zanden3, Mads Melbye11.
Abstract
Hypospadias is a common congenital condition in boys in which the urethra opens on the underside of the penis. We performed a genome-wide association study on 1,006 surgery-confirmed hypospadias cases and 5,486 controls from Denmark. After replication genotyping of an additional 1,972 cases and 1,812 controls from Denmark, the Netherlands and Sweden, 18 genomic regions showed independent association with P < 5 × 10(-8). Together, these loci explain 9% of the liability to developing this condition. Several of the identified regions harbor genes with key roles in embryonic development (including HOXA4, IRX5, IRX6 and EYA1). Subsequent pathway analysis with GRAIL and DEPICT provided additional insight into possible genetic mechanisms causing hypospadias.Entities:
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Year: 2014 PMID： 25108383 DOI： 10.1038/ng.3063
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330