Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty

D.L. Cousminer, E. Stergiakouli, D.J. Berry, W. Ang, M.M. Blokhuis, A. Körner, N. Siitonen, I. Ntalla, M. Marinelli, J.R.B. Perry, J. Kettunen, R. Jansen, I. Surakka, N.J. Timpson, S. Ring, G. McMahon, C. Power, C. Wang, M. Kähönen, J. ViikariT. Lehtimäki, C.M. Middeldorp, C.E.M. van Beijsterveldt, H.E. Hulshoff Pol, R.M. Neef, S. Weise, K. Pahkala, H. Niinikoski, E. Zeggini, K. Panoutsopoulou, M. Bustamante, B.W.J.H. Penninx, J. Murabito, M. Torrent, G.V. Dedoussis, W. Kiess, D.I. Boomsma, C.E. Pennell, O.T. Raitakari, E. Hyppönen, G. Davey Smith, S. Ripatti, M.I. McCarthy, E. Widen

Research output: Contribution to JournalArticleAcademicpeer-review

Abstract

Little is known about genes regulating male puberty. Further, while many identified pubertal timing 1variants associate with age at menarche, a late manifestation of puberty, and body mass, little is known about these variants' relationship to pubertal initiation or tempo. To address these questions, we performed genome-wide association meta-analysis in over 11 000 European samples with data on early pubertal traits, male genital and female breast development, measured by the Tanner scale. We report the first genome-wide significant locus for male sexual development upstream of myocardin-like 2 (MKL2) (P = 8.9×10-
Original languageEnglish
Pages (from-to)4452-4464
Number of pages13
JournalHuman Molecular Genetics
Volume23
Issue number16
DOIs
Publication statusPublished - 2014

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    Cousminer, D. L., Stergiakouli, E., Berry, D. J., Ang, W., Blokhuis, M. M., Körner, A., ... Widen, E. (2014). Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty. Human Molecular Genetics, 23(16), 4452-4464. https://doi.org/10.1093/hmg/ddu150