Study reveals genetic predictors of bone health and osteoporosis

An international consortium of researchers have identified a group of genes associated with the development of osteoporosis, a debilitating bone disease that cripples more than 10 million Americans a year and costs the U.S. healthcare system an estimated $17 billion annually.

The study identified 56 genes associated with bone-mineral density (BMD), the measurement used to diagnose osteoporosis. From 50 to 85 percent of variation in BMD is thought to be inherited. The findings could lead to a blood test to identify people who are at greatest risk of fractures. Fourteen of these variants were also found to increase the risk of bone fracture, 32 of the genes identified had not been linked earlier to osteoporosis and several of them were not previously known to be involved in bone biology.

Findings from the largest genome-wide association study of osteoporosis appear in TODAY's Nature Genetics.

"This study has revealed genetic predictors of bone health and osteoporosis as patients move into their much later adult years," says Dr. Rebecca Jackson, an endocrinologist at The Ohio State University Wexner Medical Center, co-author and a member of the GEnetic Factors for OSteoporosis (GEFOS), which led the study.

For this study, the researchers gathered data from more than 50 studies conducted across the globe involving 32,961 people of European and East Asian ancestry. In all, the scientists analyzed more than 80,000 individuals and identified and examined links to bone fractures in approximately 30,000 cases and 100,000 controls.

Jackson, associate dean for clinical research in Ohio State's College of Medicine and vice chair for the National Institutes of Health-sponsored (NIH) Women's Health Initiative (WHI) a 15-year federally funded study of women's health, says the results of the new research will help tailor prevention strategies.

"These findings should help us design effective risk assessments and novel therapeutics for those afflicted with osteoporosis," says Jackson, also director of Ohio State's Center for Clinical and Translational Science (CCTS), which is dedicated to translating scientific discoveries into future disease prevention strategies, health diagnostics and treatments.

Osteoporosis is a disease characterized by low bone mass and deterioration of bone tissue resulting in an increased risk of fracture. It is often referred to as a "silent" disease because individuals do not experience symptoms until after a fracture occurs. According to previous research published in the Journal of Bone Mineral Research, osteoporosis accounts for approximately 1.5 million new bone fracture cases each year.

According to the GEFOS consortium, this research leads to a better understanding of the biology of human skeletal health and fracture susceptibility. It also discovered groups of individuals with a smaller number of variants protected them against developing osteoporosis or sustaining fractures. A higher BMD results in lower risk of fracture.