A Follow-up Association Study of Genetic Variants for Bone Mineral Density in a Korean Population
Bone mineral density (BMD) is one of the quantitative traits that are genetically inherited and affected by various factors. Over the past years, genome-wide association studies (GWASs) have searched for many genetic loci that influence BMD. A recent meta-analysis of 17 GWASs for BMD of the femoral...
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BioMed Central
2014-09-01
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| Series: | Genomics & Informatics |
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| Online Access: | http://genominfo.org/upload/pdf/gni-12-114.pdf |
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| author | Seokjin Ham Tae-Young Roh |
| author_facet | Seokjin Ham Tae-Young Roh |
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| description | Bone mineral density (BMD) is one of the quantitative traits that are genetically inherited and affected by various factors. Over the past years, genome-wide association studies (GWASs) have searched for many genetic loci that influence BMD. A recent meta-analysis of 17 GWASs for BMD of the femoral neck and lumbar spine is the largest GWAS for BMD to date and offers 64 single-nucleotide polymorphisms (SNPs) in 56 associated loci. We investigated these BMD loci in a Korean population called Korea Association REsource (KARE) to identify their validity in an independent study. The KARE population contains genotypes from 8,842 individuals, and their BMD levels were measured at the distal radius (BMD-RT) and midshaft tibia (BMD-TT). Thirteen genomic loci among 56 loci were significantly associated with BMD variations, and 3 loci were involved in known biological pathways related to BMD. In order to find putative functional variants, nearby SNPs in relation to linkage equilibrium were annotated, and their possible functional effects were predicted. These findings reveal that tens of variants, not a single factor, may contribute to the genetic architecture of BMD; have an important role regardless of ethnic group; and may highlight the importance of a replication study in GWASs to validate genuine loci for BMD variation. |
| format | Article |
| id | doaj-art-7ed25e70b1264e9e924a68f29b5e233d |
| institution | Kabale University |
| issn | 1598-866X 2234-0742 |
| language | English |
| publishDate | 2014-09-01 |
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| spelling | doaj-art-7ed25e70b1264e9e924a68f29b5e233d2025-02-02T06:18:13ZengBioMed CentralGenomics & Informatics1598-866X2234-07422014-09-0112311412010.5808/GI.2014.12.3.11492A Follow-up Association Study of Genetic Variants for Bone Mineral Density in a Korean PopulationSeokjin Ham0Tae-Young Roh1Department of Life Sciences, POSTECH, Pohang 790-784, Korea.Department of Life Sciences, POSTECH, Pohang 790-784, Korea.Bone mineral density (BMD) is one of the quantitative traits that are genetically inherited and affected by various factors. Over the past years, genome-wide association studies (GWASs) have searched for many genetic loci that influence BMD. A recent meta-analysis of 17 GWASs for BMD of the femoral neck and lumbar spine is the largest GWAS for BMD to date and offers 64 single-nucleotide polymorphisms (SNPs) in 56 associated loci. We investigated these BMD loci in a Korean population called Korea Association REsource (KARE) to identify their validity in an independent study. The KARE population contains genotypes from 8,842 individuals, and their BMD levels were measured at the distal radius (BMD-RT) and midshaft tibia (BMD-TT). Thirteen genomic loci among 56 loci were significantly associated with BMD variations, and 3 loci were involved in known biological pathways related to BMD. In order to find putative functional variants, nearby SNPs in relation to linkage equilibrium were annotated, and their possible functional effects were predicted. These findings reveal that tens of variants, not a single factor, may contribute to the genetic architecture of BMD; have an important role regardless of ethnic group; and may highlight the importance of a replication study in GWASs to validate genuine loci for BMD variation.http://genominfo.org/upload/pdf/gni-12-114.pdfbone mineral densityGWAS replicationKAREsingle-nucleotide polymorphism |
| spellingShingle | Seokjin Ham Tae-Young Roh A Follow-up Association Study of Genetic Variants for Bone Mineral Density in a Korean Population Genomics & Informatics bone mineral density GWAS replication KARE single-nucleotide polymorphism |
| title | A Follow-up Association Study of Genetic Variants for Bone Mineral Density in a Korean Population |
| title_full | A Follow-up Association Study of Genetic Variants for Bone Mineral Density in a Korean Population |
| title_fullStr | A Follow-up Association Study of Genetic Variants for Bone Mineral Density in a Korean Population |
| title_full_unstemmed | A Follow-up Association Study of Genetic Variants for Bone Mineral Density in a Korean Population |
| title_short | A Follow-up Association Study of Genetic Variants for Bone Mineral Density in a Korean Population |
| title_sort | follow up association study of genetic variants for bone mineral density in a korean population |
| topic | bone mineral density GWAS replication KARE single-nucleotide polymorphism |
| url | http://genominfo.org/upload/pdf/gni-12-114.pdf |
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