DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Hypospadias. The EFO term hypospadias was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: hypospadias

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

F Geller, B Feenstra, L Carstensen, TH Pers, IA van Rooij, IB Körberg, S Choudhry, JM Karjalainen, TH Schnack, MV Hollegaard, WF Feitz, N Roeleveld, DM Hougaard, JN Hirschhorn, L Franke, LS Baskin, A Nordenskjöld, LF van der Zanden, M Melbye

TITLE:

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

JOURNAL:

Nature genetics Sep 2014, Vol 46, pp. 957-63

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. PUBMED: 25108383
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