The genetics of osteoporosis.

A genetic component clearly contributes to bone mass determination by influencing peak bone mass acquisition or, to a lesser degree, bone loss later in life. The analysis of genetic markers for osteoporosis is complex because multiple genes are involved and because osteoporosis is a multifactorial disease. The influence of a number of candidate gene alleles on bone mass has been studied in various populations. Results have been inconsistent and, at times, contradictory, as illustrated by studies on the vitamin D receptor gene. The most conclusive finding is the association linking the Sp1 polymorphism of type I collagen to bone mineral density and osteoporotic fractures. Polymorphisms of other genes either have very little influence or remain unexplored. In all likelihood, the best predictive value will be obtained by using a combination of several gene polymorphisms.