Genetic approaches to stature, pubertal timing, and other complex traits.
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.
Division of Pediatric Endocrinology and Metabolism, Rainbow Babies and Children's Hospital, University Hospitals of Cleveland, USA.
Mark R
MR
Palmert
Joel N
JN
Hirschhorn
D000328:Adult; D001827:Body Height / Q000502:physiology; D008040:Genetic Linkage; D014644:Genetic Variation / Q000235:genetics*; D005838:Genotype; D006801:Humans; D010641:Phenotype; D011627:Puberty / Q000235:genetics / Q000523:psychology*; D013997:Time Factors