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Genetic approaches to stature, pubertal timing, and other complex traits
Abstract
The factors that regulate the timing of puberty remain largely elusive, as do the factors that modulate childhood growth and adult height. However, it is clear that these developmental processes are highly heritable--much of the natural variation in growth and timing of puberty is due to genetic variation within the population. In this review, we discuss how recent genetic and genomic advances can be exploited to help understand the genetic regulation of these processes. In particular, we describe how genome-wide linkage scans and association studies, in conjunction with haplotype-based approaches, are potentially useful tools to increase our understanding of these two complex traits. Discovery of the genetic variants that regulate these two traits would expand our understanding of human neuroendocrinology, postnatal development, and the general architecture of complex genetic traits.
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Evidence suggests that a complex interaction between nutritional, environmental, and genetic factors is involved in the regulation of puberty initiation.
“The exact mechanism that leads to the reinstatement of pulsatile GnRH secretion is not known, but evidence suggests that a complex interaction between nutritional, environmental, and genetic factors is involved in the regulation of puberty initiation.40”
From Pubertal development and regulation (2016) · cites this paper as [40]
These and other data suggest that around 50-80% of the variation in pubertal onset might be genetically determined.
“These and other data suggest that around 50–80% of the variation in pubertal onset might be genetically determined.40”
From Pubertal development and regulation (2016) · cites this paper as [40]
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Metadata
- Authors
- Palmert, M. R., & Hirschhorn, J. N.
- Affiliations
- University Hospitals of Cleveland (US)
- Boston Children's Hospital (US)
- Corresponding author
- Hirschhorn, Joel N
- Venue
- Molecular Genetics and Metabolism
- Publisher
- Elsevier BV
- Published
- 2003-09
- Volume
- 80
- Issue
- 1-2
- Pages
- 1-10
- ISSN
- 1096-7192 (ISSN-L)
- OpenAlex
- W2014343152
- Cited by
- 135
- References
- 114
- Citations by year
- 2024: 1 · 2023: 4 · 2022: 7 · 2021: 5 · 2020: 4 · 2019: 5 · 2018: 8 · 2017: 3 · 2016: 7 · 2015: 7 · 2014: 7 · 2013: 8 · 2012: 4
- FWCI
- 0.48
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Molecular Genetics and Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Center for Research Resources (K23 RR15544, K23RR015544)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Reproductive Medicine › Hypothalamic control of reproductive hormones
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Keywords
- height, adult height, pubertal timing, child growth, heritability, genome-wide linkage analysis, genome-wide association study, haplotype association, complex traits, neuroendocrinology, postnatal development
- MeSH terms
- Adult, Body Height, Genotype, Humans, Genetic Linkage, Phenotype, Puberty, Time Factors, Genetic Variation
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