Genetics of osteoporotic fracture

Chuan Qiu^1,2, Christopher J Papasian², Hong-Wen Deng^1,2,3,4, Hui Shen^1,2
1Center for Bioinformatics and Genomics, Department of Biostatistics and Bioinformatics, School of Public Health and Tropical Medicine, Tulane University, New Orleans, Louisiana, USA; ²Department of Basic Medical Sciences, School of Medicine, University of Missouri-Kansas City, Kansas City, Missouri, USA; ³Center of System Biomedical Sciences, University of Shanghai for Science and Technology, Shanghai, China; ⁴Molecular and Statistical Genetics Lab, College of Life Sciences, Hunan Normal University, Changsha, China

Abstract: Osteoporosis is a major public health problem that results in a massive burden to patients and society through associated low-trauma, osteoporotic fractures. Previous studies have shown that osteoporosis-associated traits, such as low bone mineral density, as well as the probability of actually experiencing an osteoporotic fracture, are under strong genetic control. Susceptibility to osteoporosis and osteoporotic fractures is likely to be controlled by multiple genetic and environmental factors, and by interactions between them. Although numerous genetic studies, mainly candidate gene association studies, have attempted to decipher the genetic basis for osteoporosis and osteoporotic fractures, little success has been achieved. Recent advances in high-throughput genotyping technology and knowledge of common human genetic variants have shifted the approach for studying human complex disorders from candidate gene studies to large-scale genome-wide association studies. In the past three years, more than 10 genome-wide association studies have been carried out for osteoporosis. A number of genes that are associated with osteoporosis-related traits, and/or with the probability of actually experiencing an osteoporotic fracture, have been successfully identified and replicated through these studies. In this article, we review the recent progress in the genetics of osteoporosis, with an emphasis on studies that have focused on genes that directly affect osteoporotic fractures.

Keywords: osteoporotic fracture, candidate gene association study, genome-wide association study