ArticlePloS one2012
Positive selection on the osteoarthritis-risk and decreased-height associated variants at the GDF5 gene in East Asians.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed.
- TheGenes · 2025Observational
- Article
- Insights into the bone morphogenetic protein signaling in musculoskeletal disorders: Mechanisms and crosstalk.Journal of orthopaedic translation · 2025Review
- Polymorphism rs143384 GDF5 reduces the risk of knee osteoarthritis development in obese individuals and increases the disease risk in non-obese population.Arthroplasty (London, England) · 2024Article
- Decreased Risk of Knee Osteoarthritis with Taller Height in an East Asian Population: A Nationwide Cohort Study.Journal of clinical medicine · 2023Article
- Article
- Genetic etiology and clinical challenges of phenylketonuria.Human genomics · 2022Review
- Identifying adaptive alleles in the human genome: from selection mapping to functional validation.Human genetics · 2021Review
- Cytokines mapping for tissue-specific expression, eQTLs and GWAS traits.Scientific reports · 2020Article
- Antagonistic Pleiotropy in Human Disease.Journal of molecular evolution · 2020Review
- Mechanisms of synovial joint and articular cartilage development.Cellular and molecular life sciences : CMLS · 2019Review
- Complex Phenotypes: Mechanisms Underlying Variation in Human Stature.Current osteoporosis reports · 2019Review
- Osteoarthritis year in review 2018: genetics and epigenetics.Osteoarthritis and cartilage · 2019Review
- The Myth of Optimality in Clinical Neuroscience.Trends in cognitive sciences · 2018Review
- Ancient selection for derived alleles at a GDF5 enhancer influencing human growth and osteoarthritis risk.Nature genetics · 2017Article
- Altered paracrine signaling from the injured knee joint impairs postnatal long bone growth.eLife · 2017Article
- Heads, Shoulders, Elbows, Knees, and Toes: Modular Gdf5 Enhancers Control Different Joints in the Vertebrate Skeleton.PLoS genetics · 2016Article
- Implications of sex-specific selection for the genetic basis of disease.Evolutionary applications · 2013Article
- Signatures of natural selection on genetic variants affecting complex human traits.Applied & translational genomics · 2013Article
- Understanding developmental mechanisms in the context of osteoarthritis.Current rheumatology reports · 2013Review
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5 authors.
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No grant is acknowledged in the PubMed record.
Abstract
GDF5 is a member of the bone morphogenetic protein (BMP) gene family, and plays an important role in the development of the skeletal system. Variants of the gene are associated with osteoarthritis and height in some human populations. Here, we resequenced the gene in individuals from four geographically separated human populations, and found that the evolution of the promoter region deviated from neutral expectations, with the sequence evolution driven by positive selection in the East Asian population, especially the haplotypes carrying the derived alleles of 5' UTR SNPs rs143384 and rs143383. The derived alleles of rs143384 and rs143383, which are associated with a risk of osteoarthritis and decreased height, have high frequencies in non-Africans and show strong extended haplotype homozygosity and high population differentiation in East Asian. It is concluded that positive selection has driven the rapid evolution of the two osteoarthritis osteoarthritis-risk and decreased height associated variants of the human GDF5 gene, and supports the suggestion that the reduction in body size during the terminal Pleistocene and Holocene period might have been an adaptive process influenced by genetic factors.
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