A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation - UTU Research Portal

A1 Refereed original research article in a scientific journal

A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation

Authors: Dalgaard MD, Weinhold N, Edsgard D, Silver JD, Pers TH, Nielsen JE, Jorgensen N, Juul A, Gerds TA, Giwercman A, Giwercman YL, Cohn-Cedermark G, Virtanen HE, Toppari J, Daugaard G, Jensen TS, Brunak S, Rajpert-De Meyts E, Skakkebk NE, Leffers H, Gupta R

Publisher: B M J PUBLISHING GROUP

Publication year: 2012

Journal: Journal of Medical Genetics

Journal name in source: JOURNAL OF MEDICAL GENETICS

Journal acronym: J MED GENET

Number in series: 1

Volume: 49

Issue: 1

First page : 58

Last page: 65

Number of pages: 8

ISSN: 0022-2593

DOI: https://doi.org/10.1136/jmedgenet-2011-100174

Abstract

Conclusions The association of single-nucleotide polymorphisms in the TGFBR3 and BMP7 genes, which belong to the transforming growth factor b signalling pathway, suggests a role for this pathway in the pathogenesis of TDS. Integrating data from multiple layers can highlight findings in GWAS that are biologically relevant despite having border significance at currently accepted statistical levels.