ArticleOsteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA2008
A whole genome linkage scan for QTLs underlying peak bone mineral density.
Article in Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 13 citations in OpenAlex.
- Assessing the Genetic Correlations Between Blood Plasma Proteins and Osteoporosis: A Polygenic Risk Score Analysis.Calcified tissue international · 2019Article
- Weak Epistasis Generally Stabilizes Phenotypes in a Mouse Intercross.PLoS genetics · 2016Article
- Molecular genetic studies of gene identification for osteoporosis: the 2009 update.Endocrine reviews · 2010Review
- How genomics has informed our understanding of the pathogenesis of osteoporosis.Genome medicine · 2009Article
- Bivariate genome-wide linkage analysis of femoral bone traits and leg lean mass: Framingham study.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2009Article
- A three-dimensional microcomputed tomographic study of site-specific variation in trabecular microarchitecture in the human second metacarpal.Journal of anatomy · 2008Article
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
Abstract
unlabelledWe conducted a whole genome linkage scan for quantitative trait loci (QTLs) underlying peak bone mineral density (PBMD). Our efforts identified several potential genomic regions for PBMD and highlighted the importance of epistatic interaction and sex-specific analyses in identifying genetic regions underlying PBMD variation.
introductionPeak bone mineral density (PBMD) is an important clinical risk predictor of osteoporosis and explains a large part of bone mineral density (BMD) variation.
methodsTo detect susceptive quantitative trait loci (QTLs) for PBMD variation including consideration of epistatic and sex-specific effects, we conducted a whole genome linkage scan (WGLS) for PBMD using 2,200 Caucasians from 207 pedigrees, aged 20-50 years. All the individuals were genotyped with 410 microsatellite markers. In addition to WGLS in the total combined sample of males and females, we conducted epistatic interaction analyses, and sex-specific subgroup linkage analyses.
resultsWe identified several potential genomic regions that met the criteria for suggestive linkage. The most impressing region is 12p12 for hip PBMD (LOD = 2.79) in the total sample. Epistatic interaction analyses found a significant epistatic interaction between 12p12 and 22q13 (p = 0.0021) for hip PBMD. Additionally, we detected suggestive linkage evidence at 15q26 (LOD = 2.93), 2p13 (LOD = 2.64), and Xq27 (LOD = 2.64). Sex-specific analyses suggested the presence of sex-specific QTLs for PBMD variation.
conclusionsOur efforts identified several potential regions for PBMD and highlighted the importance of epistatic interaction and sex-specific analyses in identifying genetic regions underlying PBMD variation.
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