title: Genetic Contribution of Femoral Neck Bone Geometry to the Risk of Developing Osteoporosis: A Family-Based Study.
abstract: Femoral neck geometry parameters are believed to be as good as bone mineral density as independent factors in predicting hip fracture risk. This study was conducted to analyze the roles of genetic and environmental factors in femoral properties measured in a sample of Spanish families with osteoporotic fractures and extended genealogy. The "Genetic Analysis of Osteoporosis (GAO) Project" involved 11 extended families with a total number of 376 individuals. We studied three categorical phenotypes of particular clinical interest and we used a Hip structural analysis based on DXA to analyze 17 strength and geometrical phenotypes of the hip. All the femoral properties had highly significant heritability, ranging from 0.252 to 0.586. The most significant correlations were observed at the genetic level (ρG). Osteoporotic fracture status (Affected 2) and, particularly, low bone mass and osteoporotic condition (Affected 3) had the highest number of significant genetic correlations with diverse femoral properties. In conclusion, our findings suggest that a relatively simple and easy to use method based on DXA studies can provide useful data on properties of the Hip in clinical practice. Furthermore, our results provide a strong motivation for further studies in order to improve the understanding of the pathophysiological mechanism underlying bone architecture and the genetics of osteoporosis.
authors.affiliation: Department of Internal Medicine, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
authors.forename: Nerea
authors.initials: N
authors.lastname: Hernandez-de Sosa
authors.affiliation: Department of Genomics of Complex Diseases, Research Institute, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.|Bioinformatics Research Centre, Aarhus University, Aarhus, Denmark.
authors.forename: Georgios
authors.initials: G
authors.lastname: Athanasiadis
authors.affiliation: Department of Internal Medicine, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
authors.forename: Jorge
authors.initials: J
authors.lastname: Malouf
authors.affiliation: Department of Internal Medicine, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
authors.forename: Ana
authors.initials: A
authors.lastname: Laiz
authors.affiliation: Department of Internal Medicine, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
authors.forename: Ana
authors.initials: A
authors.lastname: Marin
authors.affiliation: Department of Internal Medicine, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
authors.forename: Silvia
authors.initials: S
authors.lastname: Herrera
authors.affiliation: Department of Internal Medicine, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
authors.forename: Jordi
authors.initials: J
authors.lastname: Farrerons
authors.affiliation: Department of Genomics of Complex Diseases, Research Institute, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
authors.forename: Jose Manuel
authors.initials: JM
authors.lastname: Soria
authors.affiliation: Department of Internal Medicine, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
authors.forename: Jordi
authors.initials: J
authors.lastname: Casademont
mesh_terms: D015502:Absorptiometry, Photon; D000368:Aged; D015519:Bone Density; D005190:Family; D005260:Female; D005265:Femoral Neck Fractures / Q000000981:diagnostic imaging* / Q000235:genetics* / Q000473:pathology; D005272:Femur Neck / Q000000981:diagnostic imaging* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D008875:Middle Aged; D015663:Osteoporosis, Postmenopausal / Q000000981:diagnostic imaging* / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D011379:Prognosis; D012306:Risk