title: [Collagen type I gene polymorphism in children and young adults with neoplastic disease].
abstract: Osteoporosis has multifactorial and poligenetic basis. One of the most important genetic factor, often associated with increased susceptibility to fractures and lower bone mass, is the polymorphism of the gene of collagen type I alpha 1 (COLIA1). Significant ethnic differences were found in the distribution of specific COLIA1 genotypes. Comorbidity of potentially unfavourable genotype and childhood cancer and its' treatment could enhance its' negative influence on bone. THE AIM OF THE STUDY was to evaluate the frequency of collagen type I alpha 1 gene polymorphism in children from the north-eastern region of Poland, who underwent cancer.
  
  
  METHODS
  The COLIA1 gene polymorphism was established by RFLP (restricted fragment length polymorphism) method using polymerase chain reaction (PCR) in 215 patients (89 girls and 126 boys) treated for cancer at the Department of Pediatric Oncology of Medical University of Bialystok. Control group consisted of 51 healthy children from the same region of Poland.
  
  
  RESULTS
  In the group of children with neoplastic disease we found the following distribution of COLIA genotypes: SS - 66,5%, Ss - 33,02% and ss - 0,47%. In the control group the SS genotype was more frequent (80,95%). In children treated for leukemia allel 's' was found to be more frequent (SS - 58%, Ss - 41%).
  
  
  CONCLUSIONS
  It seems that presence of 's' allel, which was proved to be concomitant with fractures occurrence in adults, should be also considered as an additional negative element of the bone structure in children, especially when other environmental factors are present (complex antineoplastic treatment, bone marrow infiltration and cancer itself). Genetic factors, such as polymorphism of collagen type I, should be taken under consideration in diseases which can potentially lead to osteoporosis.
authors.affiliation: Akademia Medyczna w Białymstoku, Klinika Onkologii Dzieciecej.
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Sawicka-Zukowska
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Muszyńska-Rosłan
authors.forename: Maryna
authors.initials: M
authors.lastname: Krawczuk-Rybak
authors.forename: Anna
authors.initials: A
authors.lastname: Galicka
authors.forename: Anna
authors.initials: A
authors.lastname: Panasiuk
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D009369:Neoplasms / Q000453:epidemiology / Q000235:genetics*; D010024:Osteoporosis / Q000453:epidemiology* / Q000235:genetics*; D011044:Poland; D012150:Polymorphism, Restriction Fragment Length
chemical_list: C000716127:COL1A1 protein, human; D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain