SynthesisHuman molecular genetics2014
Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty.
Synthesis in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers, 3 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
54 citing papers in PubMed, 3 syntheses or guidelines pooled it, 93 citations in OpenAlex.
- Pooled it
- Pooled it
- Meta-analysis identifies novel risk loci and yields systematic insights into the biology of male-pattern baldness.Nature communications · 2017Pooled it
- Sweeteners and puberty: investigating genetic and dietary influences on central precocious puberty.Journal of endocrinological investigation · 2025Article
- Investigation of growth traits in Turkish Merino lambs using multi-locus GWAS approaches: Karacabey Merino.BMC veterinary research · 2025Article
- LIN 28B expression is downregulated in mature spermatozoa of oligozoospermic men and associates with genetic variants previously linked to pubertal onset.Endocrine connections · 2025Article
- Shared Pathophysiological Mechanisms and Genetic Factors in Early Menarche and Polycystic Ovary Syndrome.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Review
- Cross-trait multivariate GWAS confirms health implications of pubertal timing.Nature communications · 2025Article
- Association of obesity and menarche SNPs and interaction with environmental factors on precocious puberty.Pediatric research · 2024Article
- Sex-specific developmental gene expression atlas unveils dimorphic gene networks in C. elegans.Nature communications · 2024Article
- Creatine Acts as a Mediator of the Causal Effect of Obesity on Puberty Onset in Girls: Evidence from Mediation Mendelian Randomization Study.Metabolites · 2024Article
- Maternal Age at Menarche Genes Determines Fetal Growth Restriction Risk.International journal of molecular sciences · 2024Article
- Metabolic control of puberty: 60 years in the footsteps of Kennedy and Mitra's seminal work.Nature reviews. Endocrinology · 2024Review
- Maternal Age at Menarche Gene Polymorphisms Are Associated with Offspring Birth Weight.Life (Basel, Switzerland) · 2023Article
- Endocrine Health and Health Care Disparities in the Pediatric and Sexual and Gender Minority Populations: An Endocrine Society Scientific Statement.The Journal of clinical endocrinology and metabolism · 2023Article
- Shared genetic basis between reproductive behaviors and anxiety-related disorders.Molecular psychiatry · 2022Article
- The Association Between Puberty Timing and Body Mass Index in a Longitudinal Setting: The Contribution of Genetic Factors.Behavior genetics · 2022Article
- Fitness, Food, and Biomarkers: Characterizing Body Composition in 19,634 Early Adolescents.Nutrients · 2022Article
- Transcriptome Analyses Identify Potential Key microRNAs and Their Target Genes Contributing to Ovarian Reserve.International journal of molecular sciences · 2021Article
- A genome-wide association study of interhemispheric theta EEG coherence: implications for neural connectivity and alcohol use behavior.Molecular psychiatry · 2021Article
Corrections and comments
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Authors and funding
45 authors at 20 institutions in 8 countries.
Funding
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.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.