ArticleJournal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research2015
Genome-wide Survey of Runs of Homozygosity Identifies Recessive Loci for Bone Mineral Density in Caucasian and Chinese Populations.
Article in Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2015. 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, 24 citations in OpenAlex.
- Inbreeding depression across the genome of Dutch Holstein Friesian dairy cattle.Genetics, selection, evolution : GSE · 2020Article
- Genome-wide association study of multiple yield traits in a diversity panel of polyploid sugarcane (Saccharum spp.).The plant genome · 2020Article
- Genetic risk factors identified in populations of European descent do not improve the prediction of osteoporotic fracture and bone mineral density in Chinese populations.Scientific reports · 2019Article
- An Osteoporosis Risk SNP at 1p36.12 Acts as an Allele-Specific Enhancer to Modulate LINC00339 Expression via Long-Range Loop Formation.American journal of human genetics · 2018Article
- Runs of homozygosity: windows into population history and trait architecture.Nature reviews. Genetics · 2018Review
- Assessing runs of Homozygosity: a comparison of SNP Array and whole genome sequence low coverage data.BMC genomics · 2018Article
- Runs of homozygosity associate with decreased risks of lung cancer in never-smoking East Asian females.Journal of Cancer · 2018Article
- Integrative analysis of GWAS, eQTLs and meQTLs data suggests that multiple gene sets are associated with bone mineral density.Bone & joint research · 2017Article
- Identification of a Copy Number Variation on Chromosome 20q13.12 Associated with Osteoporotic Fractures in the Korean Population.Genomics & informatics · 2016Article
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
Abstract
Runs of homozygosity (ROHs), in which both parental alleles are identical, have been proposed to have recessive effects on multiple human complex diseases. Osteoporosis is a common complex disease characterized by low bone mineral density (BMD), which is highly heritable. And recessive loci that contribute to BMD variations have been identified. In this study, we performed a genome-wide ROHs association study using our SNP array data from three GWAS samples including 4,900 subjects from Caucasian and Chinese populations. Significant results were further subjected to replication in 3,747 additional subjects. ROHs associated with BMD were also tested for associations with osteoporotic fractures in a GWAS fracture sample. Combining results from all the samples, we identified 697 autosomal regions with ROHs. Among these, we detected genome-wide significant associations between BMD and 6 ROHs, including ROH1q31.3, 1p31.1, 3q26.1, 11q12.1, 21q22.1 and 15q22.3 (combined P = 6.29 × 10(-5)-3.17 × 10(-8)). Especially, ROH1p31.1 was found to be associated with increased risk of osteoporotic hip fractures (odds ratio [OR] = 3.71, P = 0.032). To investigate the functional relevance of the identified ROHs, we performed cis-expression quantitative trait locus (eQTL) analysis in lymphoblast cell lines. Three ROHs, including ROH1p31.1, 11q12.1, and 15q22.3, were found to be significantly associated with mRNA expression levels of their nearby genes (PeQTL < 0.05). In summary, our findings reveal that ROHs could play as recessive-acting determinants contributing to the pathogenesis of osteoporosis. Further molecular and functional studies are needed to explore and clarify the potential mechanism.
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