Genomics Inform.  2014 Sep;12(3):114-120. 10.5808/GI.2014.12.3.114.

A Follow-up Association Study of Genetic Variants for Bone Mineral Density in a Korean Population

• Ham S
• Roh TY

• KMID: 2009098
• DOI: http://doi.org/10.5808/GI.2014.12.3.114

Abstract

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.

Keyword

bone mineral density; GWAS replication; KARE; single-nucleotide polymorphism

MeSH Terms

Bone Density*
Ethnic Groups
Femur Neck
Follow-Up Studies*
Genetic Loci
Genome-Wide Association Study
Genotype
Humans
Korea
Polymorphism, Single Nucleotide
Radius
Spine
Tibia
Transcutaneous Electric Nerve Stimulation