title: [Analysis of association of Col1a1 gene alleles with the development of osteoporosis].
abstract: Allele frequencies of the G-->T polymorphism at the regulatory region of the Collal gene in the population of the northwestern Russia (control group) and in osteoporotic patients were estimated by the RFLP method based on PCR-mediated site-directed mutagenesis. Three patient groups with radiologically confirmed osteoporosis were examined. Group 1 consisted of 64 patients with severe osteoporosis complicated by fractures (SO); group 2 included 15 children with idiopathic osteoporosis (IO); group 3 consisted of 98 women with postmenopausal osteoporosis developed at the background of estradiol-deficiency state (PMO). The frequency of functionally defective allele s in the control group was 16.7%. It was statistically different from that in the SO patients (48.4%) (P < 0.01) and in the IO children (40%) (P < 0.01). The frequency of allele s in the PMO patients constituted 23.0% and it was similar to that in the control group (P > 0.05). Analysis of the Collal alleles provides early detection of the individuals with hereditary predisposition to osteoporosis and prophylaxis of the disease at the presymptomatic stage.
authors.affiliation: Ott Institute of Obstetrics and Gynecology, Russian Academy of Medical Sciences, St. Petersburg, 199034 Russia.
authors.forename: M V
authors.initials: MV
authors.lastname: Moskalenko
authors.forename: M V
authors.initials: MV
authors.lastname: Aseev
authors.forename: I E
authors.initials: IE
authors.lastname: Zazerskaia
authors.forename: S M
authors.initials: SM
authors.lastname: Kotova
authors.forename: T E
authors.initials: TE
authors.lastname: Ivashchenko
authors.forename: V S
authors.initials: VS
authors.lastname: Baranov
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D003094:Collagen / Q000235:genetics*; D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D005260:Female; D050723:Fractures, Bone / Q000209:etiology; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D010024:Osteoporosis / Q000150:complications / Q000235:genetics*; D011110:Polymorphism, Genetic; D012426:Russia
chemical_list: D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D003094:Collagen