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Nat Genet DOI:10.1038/ng.3063

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

Publication TypeJournal Article
Year of Publication2014
AuthorsGeller, F, Feenstra, B, Carstensen, L, Pers, TH, van Rooij, IALM, Körberg, IBaranowska, Choudhry, S, Karjalainen, JM, Schnack, TH, Hollegaard, MV, Feitz, WFJ, Roeleveld, N, Hougaard, DM, Hirschhorn, JN, Franke, L, Baskin, LS, Nordenskjöld, A, van der Zanden, LFM, Melbye, M
JournalNat Genet
Volume46
Issue9
Pages957-63
Date Published2014 Sep
ISSN1546-1718
KeywordsCase-Control Studies, Denmark, Female, Genes, Developmental, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Hypospadias, Male, Netherlands, Polymorphism, Single Nucleotide, Sweden
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

URLhttp://dx.doi.org/10.1038/ng.3063
DOI10.1038/ng.3063
Pubmed

http://www.ncbi.nlm.nih.gov/pubmed/25108383?dopt=Abstract

Alternate JournalNat. Genet.
PubMed ID25108383
Grant List5K12DK083021 / DK / NIDDK NIH HHS / United States