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

A1 Vertaisarvioitu alkuperäisartikkeli tieteellisessä lehdessä

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

Tekijät: 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

Kustantaja: B M J PUBLISHING GROUP

Julkaisuvuosi: 2012

Journal: Journal of Medical Genetics

Tietokannassa oleva lehden nimi: JOURNAL OF MEDICAL GENETICS

Lehden akronyymi: J MED GENET

Numero sarjassa: 1

Vuosikerta: 49

Numero: 1

Aloitussivu: 58

Lopetussivu: 65

Sivujen määrä: 8

ISSN: 0022-2593

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

Tiivistelmä

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.