Genetic determinants of pubertal timing in the general population

Gajdos, Zofia K.Z.; Henderson, Katherine D.; Hirschhorn, Joel N.; Palmert, Mark R.

doi:10.1016/j.mce.2010.01.038

Cited by 121Hypothalamic control of reproductive hormonesGenetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesSexual Differentiation and Disorders

Genetic determinants of pubertal timing in the general population

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Gajdos, Zofia K.Z., Henderson, Katherine D., Hirschhorn, Joel N., Palmert, Mark R.·2010·Molecular and Cellular Endocrinology

DOI 10.1016/j.mce.2010.01.038PMC PMC2891370

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Abstract

Puberty is an important developmental stage during which reproductive capacity is attained. The timing of puberty varies greatly among healthy individuals in the general population and is influenced by both genetic and environmental factors. Although genetic variation is known to influence the normal spectrum of pubertal timing, the specific genes involved remain largely unknown. Genetic analyses have identified a number of genes responsible for rare disorders of pubertal timing such as hypogonadotropic hypogonadism and Kallmann syndrome. Recently, the first loci with common variation reproducibly associated with population variation in the timing of puberty were identified at 6q21 in or near LIN28B and at 9q31.2. However, these two loci explain only a small fraction of the genetic contribution to population variation in pubertal timing, suggesting the need to continue to consider other loci and other types of variants. Here we provide an update of the genes implicated in disorders of puberty, discuss genes and pathways that may be involved in the timing of normal puberty, and suggest additional avenues of investigation to identify genetic regulators of puberty in the general population.

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The mechanism by which LIN28B is associated with the control of GnRH secretion is unknown.
“Although several other human studies replicated the findings from the genome-wide association studies, the mechanism by which this gene is associated with the control of GnRH secretion is unknown.85”
From Pubertal development and regulation (2016) · cites this paper as [85]

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Expression of a Tumor-Related Gene Network Increases in the Mammalian Hypothalamus at the Time of Female Puberty
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Genomewide Linkage Scan for Quantitative Trait Loci Underlying Variation in Age at Menarche
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Association Studies of Common Variants in 10 Hypogonadotropic Hypogonadism Genes with Age at Menarche
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The Rate of Growth and Maturing of Twins
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Kaminski, B. A., & Palmert, M. R. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-803592-4.00107-3 · Cited by 1 · see citing works

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[86]Weedon MN Lettre G Freathy RM Lindgren CM Voight BF Perry JR Elliott KS Hackett R Guiducci C Shields B A common variant of HMGA2 is associated with adult and childhood height in the general population Nat Genet 2007 PMC3086278 17767157

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Replication of genetic loci for ages at menarche and menopause in the multi-ethnic Population Architecture using Genomics and Epidemiology (PAGE) study
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Factors Influencing Menarcheal Age: Results From the Cohort of Tehran Lipid and Glucose Study
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Treatment of children and adolescents with idiopathic short stature
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Father absence and timing of menarche in adolescent girls from a UK cohort: The mediating role of maternal depression and major financial problems
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MKRN3 Interacts With Several Proteins Implicated in Puberty Timing but Does Not Influence GNRH1 Expression
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The Makorin lep-2 and the lncRNA lep-5 regulate lin-28 to schedule sexual maturation of the C. elegans nervous system
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RNA-seq analysis of lncRNA-controlled developmental gene expression during puberty in goat & rat
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Animal Modeling of Early Programming and Disruption of Pubertal Maturation
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Authors: Gajdos, Z. K. Z., Henderson, K. D., Hirschhorn, J. N., & Palmert, M. R.
Affiliations: Broad Institute (US)
City Of Hope National Medical Center (US)
University of Toronto (CA)
Corresponding author: Palmert, Mark R.
ORCID: Hirschhorn, Joel N.
Palmert, Mark R.
Venue: Molecular and Cellular Endocrinology
Publisher: Elsevier BV
Published: 2010-08
Volume: 324
Issue: 1-2
Pages: 21-29
ISSN: 0303-7207 (ISSN-L)
DOI: 10.1016/j.mce.2010.01.038
PMC: PMC2891370
OpenAlex: W1987216303
Cited by: 121
References: 119
Citations by year: 2026: 6 · 2025: 6 · 2024: 4 · 2023: 3 · 2022: 6 · 2021: 3 · 2020: 4 · 2019: 14 · 2018: 9 · 2017: 6 · 2016: 15 · 2015: 7 · 2014: 11 · 2013: 12 · 2012: 9
FWCI: 1.22
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: Molecular and Cellular Endocrinology (publishedVersion)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
Funders: Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD048960)
Topics: Health Sciences › Medicine › Reproductive Medicine › Hypothalamic control of reproductive hormones
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
Keywords: pubertal timing, genetic factors, puberty, hypogonadotropic hypogonadism, Kallmann syndrome, LIN28B, genetic loci, reproductive development
MeSH terms: Genetics, Population, Humans, Puberty, Time Factors, Genetic Variation, Genetic Diseases, Inborn

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Genetic determinants of pubertal timing in the general population

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