Collagen type I α1 gene Sp1 polymorphism in premenopausal women with primary osteoporosis: Improved detection of Sp1 binding site polymorphism in the collagen …
L Alvarez, J Oriola, J Jo, T Ferro, F Pons… - Clinical …, 1999 - academic.oup.com
L Alvarez, J Oriola, J Jo, T Ferro, F Pons, P Peris, N Guañabens, M Duran, A Monegal…
Clinical chemistry, 1999•academic.oup.comOsteoporosis is a common disorder characterized by reduced bone mass and increased risk
of fracture (1). Evidence from family studies suggests that genetic factors have a major role
in the determination of bone mass (2). Because bone mass and bone strength are complex
phenotypes, their heredity is almost certainly polygenic. Among the potential candidate
genes that might influence bone mass acquisition, special attention has been directed to the
vitamin D receptor and estrogen receptor genes; results of these studies, however, have …
of fracture (1). Evidence from family studies suggests that genetic factors have a major role
in the determination of bone mass (2). Because bone mass and bone strength are complex
phenotypes, their heredity is almost certainly polygenic. Among the potential candidate
genes that might influence bone mass acquisition, special attention has been directed to the
vitamin D receptor and estrogen receptor genes; results of these studies, however, have …
Osteoporosis is a common disorder characterized by reduced bone mass and increased risk of fracture (1). Evidence from family studies suggests that genetic factors have a major role in the determination of bone mass (2). Because bone mass and bone strength are complex phenotypes, their heredity is almost certainly polygenic. Among the potential candidate genes that might influence bone mass acquisition, special attention has been directed to the vitamin D receptor and estrogen receptor genes; results of these studies, however, have been contradictory (3–5). Type I collagen, a protein encoded by the collagen I α1 (COLIA1) and collagen I α2 (COLIA2) genes, is the major protein of bone matrix. Genes encoding collagen type I may be important candidates for the genetic regulation of bone density because mutations that affect their coding regions have been associated with osteogenesis
Oxford University Press