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 Puberty onset. The EFO term puberty onset measurement 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: puberty onset measurement

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

DL Cousminer, E Stergiakouli, DJ Berry, W Ang, MM Groen-Blokhuis, A Körner, N Siitonen, I Ntalla, M Marinelli, JR Perry, J Kettunen, R Jansen, I Surakka, NJ Timpson, S Ring, G Mcmahon, C Power, C Wang, M Kähönen, J Viikari, T Lehtimäki, CM Middeldorp, HE Hulshoff Pol, M Neef, S Weise, K Pahkala, H Niinikoski, E Zeggini, K Panoutsopoulou, M Bustamante, BW Penninx, J Murabito, M Torrent, GV Dedoussis, W Kiess, DI Boomsma, CE Pennell, OT Raitakari, E Hyppönen, G Davey Smith, S Ripatti, MI McCarthy, E Widén

TITLE:

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

JOURNAL:

Human molecular genetics Aug 2014, Vol 23, pp. 4452-64

ABSTRACT:

Little is known about genes regulating male puberty. Further, while many identified pubertal timing variants 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(-9)), a menarche locus tagging a developmental pathway linking earlier puberty with reduced pubertal growth (P = 4.6 × 10(-5)) and short adult stature (p = 7.5 × 10(-6)) in both males and females. Furthermore, our results indicate that a proportion of menarche loci are important for pubertal initiation in both sexes. Consistent with epidemiological correlations between increased prepubertal body mass and earlier pubertal timing in girls, body mass index (BMI)-increasing alleles correlated with earlier breast development. In boys, some BMI-increasing alleles associated with earlier, and others with delayed, sexual development; these genetic results mimic the controversy in epidemiological studies, some of which show opposing correlations between prepubertal BMI and male puberty. Our results contribute to our understanding of the pubertal initiation program in both sexes and indicate that although mechanisms regulating pubertal onset in males and females may largely be shared, the relationship between body mass and pubertal timing in boys may be complex and requires further genetic studies. PUBMED: 24770850
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