ReviewJournal of endocrinological investigation2014
Unveiling the mysteries of the genetics of osteoporosis.
Review in Journal of endocrinological investigation, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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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Who cites it
16 citing papers in PubMed.
- Can AI reveal the next generation of high-impact bone genomics targets?Bone reports · 2025Review
- TheInternational journal of burns and trauma · 2024Review
- Proceedings of the Post-Genome Analysis for Musculoskeletal Biology Workshop.Current osteoporosis reports · 2023Review
- Predicting the targets of IRF8 and NFATc1 during osteoclast differentiation using the machine learning method framework cTAP.BMC genomics · 2022Article
- Body composition and bone status in relation to microvascular damage in systemic sclerosis patients.Journal of endocrinological investigation · 2021Article
- Association of vitamin D receptor ApaI gene polymorphism with osteoporosis susceptibility in postmenopausal Han Chinese women in Xinjiang.Biomedical reports · 2018Article
- Screening Gene Knockout Mice for Variation in Bone Mass: Analysis by μCT and Histomorphometry.Current osteoporosis reports · 2018Review
- The epidemiology of osteoporosis in Italian postmenopausal women according to the National Bone Health Alliance (NBHA) diagnostic criteria: a multicenter cohort study.Journal of endocrinological investigation · 2018Article
- Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density.Annals of the rheumatic diseases · 2018Article
- Primary cilium is required for the stimulating effect of icaritin on osteogenic differentiation and mineralization of osteoblasts in vitro.Journal of endocrinological investigation · 2017Article
- Rapid phenotyping of knockout mice to identify genetic determinants of bone strength.The Journal of endocrinology · 2016Review
- Genetics of aging bone.Mammalian genome : official journal of the International Mammalian Genome Society · 2016Review
- Identification of a novel LEMD3 Y871X mutation in a three-generation family with osteopoikilosis and review of the literature.Journal of endocrinological investigation · 2016Review
- High osteoporosis risk among East Africans linked to lactase persistence genotype.BoneKEy reports · 2016Article
- Osteoporosis: the emperor has no clothes.Journal of internal medicine · 2015Review
- Proceedings of the 2023 Santa Fe Bone Symposium: Progress and Controversies in the Management of Patients with Skeletal Diseases.Journal of clinical densitometry : the official journal of the International Society for Clinical DensitometryReview
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionOsteoporosis is a common disease characterised by low bone mineral density and an increased risk of fragility fractures.
methodsWe conducted a literature review of relevant studies relating to the genetics of osteoporosis.
resultsFamily studies have revealed that bone density and fractures have a strong heritable component but environmental factors also play an important role. This makes identification of the causative genetic variants challenging. Linkage analysis has been successful in identifying the genes responsible for rare inherited diseases associated with abnormalities of bone mass but has been of limited value in osteoporosis. In contrast, genome-wide association studies in large cohort studies have identified 56 loci with robust evidence of association with bone density and 14 loci that predispose to fractures. Although the effect size of the implicated variants is small, many of the loci contain genes known to be involved in regulating bone cell activity through the RANK and Wnt signalling pathways, whereas others contain novel genes not previously implicated in bone metabolism. In a few instances, whole genome and exome sequencing have been successfully used to identify rare variants of large effect size that influence susceptibility to osteoporosis.
conclusionA future challenge will be to conduct fine mapping and functional analysis of the loci implicated in osteoporosis in order to identify the causal genetic variants and examine the mechanisms by which they influence bone cell function and bone mass. Ultimately this may lead to the identification of biomarkers for susceptibility to osteoporosis and fractures or new therapeutic targets.
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