ArticleHuman molecular genetics2012
Synthesizing genome-wide association studies and expression microarray reveals novel genes that act in the human growth plate to modulate height.
Article in Human molecular genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 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.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
50 citing papers in PubMed, 3 syntheses or guidelines pooled it, 76 citations in OpenAlex.
- Boosting the power of genome-wide association studies within and across ancestries by using polygenic scores.Nature genetics · 2023Pooled it
- Defining the role of common variation in the genomic and biological architecture of adult human height.Nature genetics · 2014Pooled it
- Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty.Human molecular genetics · 2014Pooled it
- Functional interactors of three genome-wide association study genes are differentially expressed in severe chronic obstructive pulmonary disease lung tissue.Scientific reports · 2017Trial
- Copy number variants in short children born small for gestational age.Hormone research in paediatrics · 2014Trial
- Genetics of skeletal proportions across two different populations.American journal of human genetics · 2026Article
- Inflammation impairs post-hospital discharge growth among children hospitalised with acute illness in sub-Saharan Africa and south Asia.Nature communications · 2025Article
- Growth disorders caused by variants in epigenetic regulators: progress and prospects.Frontiers in endocrinology · 2024Review
- Biobank-scale methods and projections for sparse polygenic prediction from machine learning.Scientific reports · 2023Article
- Genome-wide CRISPR screening of chondrocyte maturation newly implicates genes in skeletal growth and height-associated GWAS loci.Cell genomics · 2023Article
- Identification of novel genes includingFrontiers in endocrinology · 2023Article
- A Genetic Approach in the Evaluation of Short Stature.The Eurasian journal of medicine · 2022Article
- Article
- Genes with specificity for expression in the round cell layer of the growth plate are enriched in genomewide association study (GWAS) of human height.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2021Article
- Genetic variant of TTLL11 gene and subsequent ciliary defects are associated with idiopathic scoliosis in a 5-generation UK family.Scientific reports · 2021Article
- Physiological regulation of bone length and skeletal proportion in mammals.Experimental physiology · 2021Review
- Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes.Frontiers in endocrinology · 2021Article
- Growth plate gene involment and isolated short stature.Endocrine · 2021Review
- Short Stature is Progressive in Patients with Heterozygous NPR2 Mutations.The Journal of clinical endocrinology and metabolism · 2020Observational
- Complex Phenotypes: Mechanisms Underlying Variation in Human Stature.Current osteoporosis reports · 2019Review
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
Abstract
Previous meta-analysis of genome-wide association (GWA) studies has identified 180 loci that influence adult height. However, each GWA locus typically comprises a set of contiguous genes, only one of which presumably modulates height. We reasoned that many of the causative genes within these loci influence height because they are expressed in and function in the growth plate, a cartilaginous structure that causes bone elongation and thus determines stature. Therefore, we used expression microarray studies of mouse and rat growth plate, human disease databases and a mouse knockout phenotype database to identify genes within the GWAS loci that are likely required for normal growth plate function. Each of these approaches identified significantly more genes within the GWA height loci than at random genomic locations (P < 0.0001 each), supporting the validity of the approach. The combined analysis strongly implicates 78 genes in growth plate function, including multiple genes that participate in PTHrP-IHH, BMP and CNP signaling, and many genes that have not previously been implicated in the growth plate. Thus, this analysis reveals a large number of novel genes that regulate human growth plate chondrogenesis and thereby contribute to the normal variations in human adult height. The analytic approach developed for this study may be applied to GWA studies for other common polygenic traits and diseases, thus providing a new general strategy to identify causative genes within GWA loci and to translate genetic associations into mechanistic biological insights.
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Registered trials
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.