ArticlePloS one2017
Functional relevance for associations between osteoporosis and genetic variants.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 19 citations in OpenAlex.
- Genetic variants in theIn silico pharmacology · 2025Article
- An FGFR2 mutation as the potential cause of a new phenotype including early-onset osteoporosis and bone fractures: a case report.BMC medical genomics · 2023Article
- The Brown AlgaeNutrients · 2022Article
- Study of selected genes of Wnt signaling pathway in relation to the parameters in the bone tissue of the laying hens.Saudi journal of biological sciences · 2022Article
- Gene Expression and RNA Splicing Imputation Identifies Novel Candidate Genes Associated with Osteoporosis.The Journal of clinical endocrinology and metabolism · 2020Article
- Pleiotropic loci underlying bone mineral density and bone size identified by a bivariate genome-wide association analysis.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2020Article
- The association of genetic variants inBioscience reports · 2019Article
- LRP5 gene polymorphisms and radiographic joint damage in rheumatoid arthritis patients.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2018Article
- The low-density lipoprotein receptor-related protein 5 (LRP5) 4037C>T polymorphism: candidate for susceptibility to type 1 diabetes mellitus.Archives of endocrinology and metabolism · 2018Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Osteoporosis is characterized by increased bone loss and deterioration of bone microarchitecture, which will lead to reduced bone strength and increased risk of fragility fractures. Previous studies have identified many genetic loci associated with osteoporosis, but functional mechanisms underlying the associations have rarely been explored. In order to explore the potential molecular functional mechanisms underlying the associations for osteoporosis, we performed integrative analyses by using the publically available datasets and resources. We searched 128 identified osteoporosis associated SNPs (P<10-6), and 8 SNPs exert cis-regulation effects on 11 eQTL target genes. Among the 8 SNPs, 2 SNPs (RPL31 rs2278729 and LRP5 rs3736228) were confirmed to impact the expression of 3 genes (RPL31, CPT1A and MTL5) that were differentially expressed between human subjects of high BMD group and low BMD group. All of the functional evidence suggested the important functional mechanisms underlying the associations of the 2 SNPs (rs2278729 and rs3736228) and 3 genes (RPL31, CPT1A and MTL5) with osteoporosis. This study may provide novel insights into the functional mechanisms underlying the osteoporosis associated genetic variants, which will help us to comprehend the potential mechanisms underlying the genetic association for osteoporosis.
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