Factors influencing peak bone mass gain / 医学前沿

Bone mass is a key determinant of osteoporosis and fragility fractures. Epidemiologic studies have shown that a 10% increase in peak bone mass (PBM) at the population level reduces the risk of fracture later in life by 50%. Low PBM is possibly due to the bone loss caused by various conditions or processes that occur during adolescence and young adulthood. Race, gender, and family history (genetics) are responsible for the majority of PBM, but other factors, such as physical activity, calcium and vitamin D intake, weight, smoking and alcohol consumption, socioeconomic status, age at menarche, and other secondary causes (diseases and medications), play important roles in PBM gain during childhood and adolescence. Hence, the optimization of lifestyle factors that affect PBM and bone strength is an important strategy to maximize PBM among adolescents and young people, and thus to reduce the low bone mass or osteoporosis risk in later life. This review aims to summarize the available evidence for the common but important factors that influence bone mass gain during growth and development and discuss the advances of developing high PBM.

Assessing the clinical risk factors of fragility fractures with GWAS data and Mendelian randomisation approach / 中华内分泌代谢杂志

This commentary on the paper " Assessment of the genetic and clinical determinants of fracture risk: genome wide association and mendelian randomisation study" published recently on the British Medrcal Journal (BMJ), has been focused on the analysis of the study design and the advantages/disadvantages of large-scale design. Besides discussing the main findings of the study, it is pointed out that the negative relationship between the traits should be interpreted carefully. Finally, we introduce the study design of Mendelian randomization ( MR) and randomized controlled trial (RCT), the similarities and differences between them are compared. We believe that more and more MR studies based on large-scale genome wide association study (GWAS) data will be carried out in the next few years.

Insights into the genetic determinants of osteoporosis and related traits from genome-wide studies / 中华内分泌代谢杂志

Osteoporosis, which is characterized by reduced bone mineral density (BMD) and an increased risk of fragility fractures, is the result of a complex interaction between environmental factors and genetic variants that confer susceptibility. Fracture and other complications caused by osteoporosis have serious impact on the life quality and life span of patients. Although previous linkage and candidate gene studies have provided few replicated loci for osteoporosis, genome-wide approaches and next generation sequencing have produced clear and reproducible findings. To date, 25 genome-wide studies for osteoporosis and related traits have been conducted, identifying 76 genes and loci. In this review, we will update the genetic study of osteoporosis and provide some perspective views.