Genetic Analysis in a Familial Case With High Bone Mineral Density Suggests Additive Effects at Two Loci.

ABSTRACT: Osteoporosis is the most common bone disease, characterized by a low bone mineral density (BMD) and increased risk of fracture. At the other end of the BMD spectrum, some individuals present strong, fracture-resistant, bones. Both osteoporosis and high BMD are heritable and their genetic architecture encompasses polygenic inheritance of common variants and some cases of monogenic highly penetrant variants in causal genes. We have investigated the genetics of high BMD in a family segregating this trait in an apparently Mendelian dominant pattern. We searched for rare causal variants by whole-exome sequencing in three affected and three nonaffected family members. Using this approach, we have identified 38 rare coding variants present in the proband and absent in the three individuals with n

SUBMITTER: Martinez-Gil N 

PROVIDER: S-EPMC9009133 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature