We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Genome-wide association analyses identify variants in developmental genes associated with hypospadias.
- Authors
Geller, Frank; Feenstra, Bjarke; Carstensen, Lisbeth; Pers, Tune H; van Rooij, Iris A L M; Körberg, Izabella Baranowska; Choudhry, Shweta; Karjalainen, Juha M; Schnack, Tine H; Hollegaard, Mads V; Feitz, Wout F J; Roeleveld, Nel; Hougaard, David M; Hirschhorn, Joel N; Franke, Lude; Baskin, Laurence S; Nordenskjöld, Agneta; van der Zanden, Loes F M; Melbye, Mads
- 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.
- Subjects
DENMARK; HYPOSPADIAS; DEVELOPMENTAL genetics; LOCUS (Genetics); GENE expression; CONGENITAL disorders; URETHRA abnormalities; MEDICAL research; GENETICS
- Publication
Nature Genetics, 2014, Vol 46, Issue 9, p957
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng.3063