Scientific Publications

Genome-wide association analyses identify variants in developmental genes associated with hypospadias.

Publication TypeJournal Article
AuthorsGeller, F., Feenstra B., Carstensen L., Pers TH, van Rooij IA, Körberg IB, Choudhry S., Karjalainen JM, Schnack TH, Hollegaard MV, Feitz WF, Roeleveld N., Hougaard DM, Hirschhorn JN, Franke L., Baskin LS, Nordenskjöld A., van der Zanden LF, and Melbye M.
AbstractHypospadias 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.
Year of Publication2014
JournalNature genetics
Date Published (YYYY/MM/DD)2014/08/10
ISSN Number1061-4036
DOI10.1038/ng.3063
PubMedhttp://www.ncbi.nlm.nih.gov/pubmed/25108383?dopt=Abstract