Sizing up human height variation

@article{Visscher2008SizingUH,
  title={Sizing up human height variation},
  author={Peter M. Visscher},
  journal={Nature Genetics},
  year={2008},
  volume={40},
  pages={489-490}
}
  • P. Visscher
  • Published 2008
  • Biology, Medicine
  • Nature Genetics
Genome-wide association studies have identified many variants affecting susceptibility to disease. Now, three studies use this approach to study adult height variation in a combined sample size of ∼63,000 individuals and report a total of 54 validated variants influencing this trait. 

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References

SHOWING 1-10 OF 17 REFERENCES
Many sequence variants affecting diversity of adult human height
TLDR
Twenty-seven regions of the genome are identified with one or more sequence variants showing significant association with height and the strongest association was with SNPs in the ZBTB38 gene. Expand
Common variants in the GDF5-UQCC region are associated with variation in human height
TLDR
It is shown that common variants in the osteoarthritis-associated locus GDF5-UQCC contribute to variation in height with an estimated additive effect of 0.44 cm (overall P < 10−15). Expand
A common variant of HMGA2 is associated with adult and childhood height in the general population
TLDR
There are few examples of common genetic variants reproducibly associated with human quantitativetraits; these results represent, to the authors' knowledge, the first consistently replicated association with adult and childhood height. Expand
Genome-wide association analysis identifies 20 loci that influence adult height
TLDR
The loci the authors identified implicate genes in Hedgehog signaling, extracellular matrix, and cancer pathways, and provide new insights into human growth and developmental processes and insights into the genetic architecture of a classic quantitative trait. Expand
Identification of ten loci associated with height highlights new biological pathways in human growth
TLDR
A meta-analysis of genome-wide association study data of height from 15,821 individuals at 2.2 million SNPs found 10 newly identified and two previously reported loci were strongly associated with variation in height, and highlight several pathways as important regulators of human stature. Expand
Assessing the function of genetic variants in candidate gene association studies
TLDR
New approaches to assessing functional significance of inherited genetic variation, which combine molecular genetics, epidemiology and bioinformatics, promise to enhance reproducibility and plausibility of associations between genotypes and disease. Expand
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
TLDR
This study has demonstrated that careful use of a shared control group represents a safe and effective approach to GWA analyses of multiple disease phenotypes; generated a genome-wide genotype database for future studies of common diseases in the British population; and shown that, provided individuals with non-European ancestry are excluded, the extent of population stratification in theBritish population is generally modest. Expand
Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits
TLDR
A website for performing power calculations for the design of linkage and association genetic mapping studies of complex traits and the package is made available atstatgen.iop.ac.uk/gpc. Expand
Height, leg length, and cancer risk: a systematic review.
TLDR
Associations between height and cancer risk have been reported in a number of prospective studies, and raised levels of IGF-I are associated with increased risks of prostate, breast, and colorectal cancers. Expand
Prediction of individual genetic risk to disease from genome-wide association studies.
TLDR
The number and effect size of risk loci that underlie complex disease constrained by the disease parameters of prevalence and heritability are investigated and an approach to assess the genetic risk of a disease in healthy individuals is proposed, based on dense genome-wide SNP panels. Expand
...
1
2
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