Genetics of osteoporotic fracture

• Published in: Orthopedic research and reviews 2011-01, Vol.3, p.11-21
• Main Authors: Shen, Chuan Qiu, Deng, Hong-Wen
• Format: Article
• Language: English
• Subjects: Fractures; Genes; Genomes; Osteoporosis
• ISSN: 1179-1462; 1179-1462
• DOI: 10.2147/ORR.S16748

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.