title: Osteoporosis: A Silent Disease with Complex Genetic Contribution.
abstract: Osteoporosis is the most common multifactorial metabolic bone disorder worldwide with a strong genetic component. In this review, the evidence for a genetic contribution to osteoporosis and related phenotypes is summarized alongside with methods used to identify osteoporosis susceptibility genes. The key biological pathways involved in the skeleton and bone development are discussed with a particular focus on master genes clustered in these pathways and their mode of action. Furthermore, the most studied single nucleotide polymorphisms (SNPs) analyzed for their importance as genetic markers of the disease are presented. New data generated by next-generation sequencing in conjunction with extensive meta-analyses should contribute to a better understanding of the genetic basis of osteoporosis and related phenotype variability. These data could be ultimately used for identifying at-risk patients for disease prevention by both controlling environmental factors and providing possible therapeutic targets.
authors.affiliation: Department of Genetics, Faculty of Medicine, Babol University of Medical Sciences, Babol 4717647745, Iran.
authors.forename: Maryam
authors.initials: M
authors.lastname: Mafi Golchin
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences & Health Services, Tehran 1985717443, Iran.
authors.forename: Laleh
authors.initials: L
authors.lastname: Heidari
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences & Health Services, Tehran 1985717443, Iran.
authors.forename: Seyyed Mohammad Hossein
authors.initials: SM
authors.lastname: Ghaderian
authors.affiliation: Department of Genetics, Faculty of Medicine, Babol University of Medical Sciences, Babol 4717647745, Iran. Electronic address: halehakhavan@yahoo.com.
authors.forename: Haleh
authors.initials: H
authors.lastname: Akhavan-Niaki
mesh_terms: D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D010012:Osteogenesis; D010024:Osteoporosis / Q000235:genetics* / Q000378:metabolism; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D015398:Signal Transduction / Q000235:genetics
keywords: Bone mineral density; Osteoporosis; Regulatory pathways; Single nucleotide polymorphisms