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



: 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

: 2012

: Journal of Medical Genetics

: JOURNAL OF MEDICAL GENETICS

: J MED GENET

: 1

: 49

: 1

: 58

: 65

: 8

: 0022-2593

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


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.



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