Article
Genome-wide association analyses identify variants in developmental genes associated with hypospadias.
Nature genetics - 1 Sept 2014
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 excerpt
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 ×...
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