ArticleBMC medical genetics2009
Association of a functional microsatellite within intron 1 of the BMP5 gene with susceptibility to osteoarthritis.
Article in BMC medical genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Assessment of osteoarthritis candidate genes in a meta-analysis of nine genome-wide association studies.Arthritis & rheumatology (Hoboken, N.J.) · 2014Pooled it
- Review
- Comparison of the Microsatellite Distribution Patterns in the Genomes of Euarchontoglires at the Taxonomic Level.Frontiers in genetics · 2021Article
- Association between Single Nucleotide Polymorphisms ofJournal of clinical and diagnostic research : JCDR · 2017Article
- Bone Morphogenetic Protein (BMP) signaling in development and human diseases.Genes & diseases · 2014Article
- Defining structural abnormalities of the hip joint at risk of degeneration.Journal of hip preservation surgery · 2014Article
- Association of a BMP5 microsatellite with knee osteoarthritis: case-control study.Arthritis research & therapy · 2012Article
- Analysis of estrogen receptor alpha gene haplotype in Mexican mestizo patients with primary osteoarthritis of the knee.Rheumatology international · 2012Article
- Structural, genetic, and functional signatures of disordered neuro-immunological development in autism spectrum disorder.PloS one · 2012Article
- Relationship between joint shape and the development of osteoarthritis.Current opinion in rheumatology · 2010Review
- Functional intronic polymorphisms: Buried treasure awaiting discovery within our genes.Human genomics · 2010Article
- Evaluation of the association between a single-nucleotide polymorphism of bone morphogenetic proteins 5 gene and risk of knee osteoarthritis.Journal of postgraduate medicineArticle
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundIn a previous study carried out by our group, the genotyping of 36 microsatellite markers from within a narrow interval of chromosome 6p12.3-q13 generated evidence for linkage and for association to female hip osteoarthritis (OA), with the most compelling association found for a marker within intron 1 of the bone morphogenetic protein 5 gene (BMP5). In this study, we aimed to further categorize the association of variants within intron 1 of BMP5 with OA through an expanded genetic association study of the intron and subsequent functional analysis of associated polymorphisms.
methodsWe genotyped 18 common polymorphisms including 8 microsatellites and 9 single nucleotide polymorphisms (SNPs) and 1 insertion/deletion (INDEL) from within highly conserved regions between human and mouse within intron 1 of BMP5. These markers were then tested for association to OA by a two-stage approach in which the polymorphisms were initially genotyped in a case-control cohort comprising 361 individuals with associated polymorphisms (P < or = 0.05) then genotyped in a second case-control cohort comprising 1185 individuals.
resultsTwo BMP5 intron 1 polymorphisms demonstrated association in the combined case-control cohort of 1546 individuals (765 cases and 781 controls): microsatellite D6S1276 (P = 0.018) and SNP rs921126 (P = 0.013). Functional analyses in osteoblastic, chondrocytic, and adipocytic cell lines indicated that allelic variants of D6S1276 have significant effects on the transcriptional activity of the BMP5 promoter in vitro.
conclusionVariability in gene expression of BMP5 may be an important contributor to OA genetic susceptibility.
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