title: [Genetic markers in the pathogenesis of osteopenia and osteoporosis in cystic fibrosis].
abstract: Cystic fibrosis (CF) is the most common recessive autosomal disorder in the Caucasian population. Advancements in treatment of CF patients have increased life expectancy from approximately 2 to over 30 years. Complex approach to the health status and management of CF children increased the interest in osteoarticular system pathology in these patients. This particularly concerns osteopenia and osteoporosis. Multiple studies indicate that osteoporosis is a genetic disease in which the phenotype is determined by both environmental and genetic factors and by mutual interactions between them. It is postulated that osteoporosis occurs as the result of mutations and/or polymorphisms in many different genes. The evidence for the genotype-phenotype correlation came from the analysis of mutations and polymorphisms in Collagen Type I Alpha 1 (COL1A1), Vitamin D Receptor (VDR) and Calcitonin receptor (CALCR) genes. Determination of osteoporotic genetic background may lead to better understanding of the pathomechanism of osteoporosis in CF patients and to help further define treatment guidelines.
authors.affiliation: Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul. Kasprzaka 17a, 01-211 Warszawa, Poland. aleksia_n@interia.pl
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Norek
authors.forename: Beata
authors.initials: B
authors.lastname: Romanowska-Pietrasiak
authors.forename: Jerzy
authors.initials: J
authors.lastname: Bal
mesh_terms: D001851:Bone Diseases, Metabolic / Q000235:genetics; D002648:Child; D002662:Child Health Services / Q000458:organization & administration; D000090602:Collagen Type I, alpha 1 Chain; D003550:Cystic Fibrosis / Q000150:complications* / Q000235:genetics / Q000378:metabolism; D005819:Genetic Markers; D005820:Genetic Testing / Q000458:organization & administration; D006801:Humans; D026502:LDL-Receptor Related Proteins / Q000378:metabolism; D060492:Low Density Lipoprotein Receptor-Related Protein-5; D010024:Osteoporosis / Q000235:genetics* / Q000378:metabolism; D011110:Polymorphism, Genetic; D018167:Receptors, Calcitriol / Q000378:metabolism; D011960:Receptors, Estrogen / Q000378:metabolism; D014807:Vitamin D / Q000378:metabolism; D044465:White People / Q000235:genetics
chemical_list: C000716127:COL1A1 protein, human; D000090602:Collagen Type I, alpha 1 Chain; D005819:Genetic Markers; D026502:LDL-Receptor Related Proteins; C555482:LRP5 protein, human; D060492:Low Density Lipoprotein Receptor-Related Protein-5; D018167:Receptors, Calcitriol; D011960:Receptors, Estrogen; D014807:Vitamin D