title: Association between osteoporosis and polymorphisms of the bone Gla protein, estrogen receptor 1, collagen 1-A1 and calcitonin receptor genes in Turkish postmenopausal women.
abstract: In this study, we have investigated the association between osteoporosis and osteocalcin (BGLAP) -298 C>T, estrogen receptor 1 (ER1) 397 T>C, collagen type1 alpha 1 (Col1A1) 2046 G>T and calcitonin receptor (CALCR) 1340 T>C polymorphisms. Genomic DNA was obtained from 266 persons (158 osteoporotic and 108 healthy controls). Genomic DNA was extracted from EDTA-preserved peripheral venous blood of patients and controls by a salting-out method and analyzed by PCR-RFLP. As a result, there was no statistically significant difference in the genotype and allele frequencies of patients and controls for BGLAP -298 C>T, Col1A1 2046 G>T, ER1 397 T>C and CALCR 1340 T>C polymorphisms. However, ER1 CC genotype compared with TT+TC genotypes was found to increase the two fold the risk of osteoporosis [p=0.039, OR=2.156, 95% CI (1.083-4.293)] and CALCR CC genotype compared with TT+TC genotypes was found to have protective effect against osteoporosis [p=0.045, OR=0.471, 95% CI (0.237-0.9372)]. In the combined genotype analysis, ER1/CALCR TCCC combined genotype was estimated to have protective effect against osteoporosis [p=0.0125, OR=0.323, 95% CI (0.1383-0.755)] whereas BGLAP/Col1A1 CCTT and ER1/CALCR CCTT combined genotypes were estimated as risk factors for osteoporosis in Turkish population (p=0.027, p=0.009 respectively).
authors.affiliation: Ondokuz Mayis University, Faculty of Medicine, Dept. of Medical Biology and Genetics, Samsun, Turkey. stural@omu.edu.tr
authors.forename: Sengul
authors.initials: S
authors.lastname: Tural
authors.forename: Nurten
authors.initials: N
authors.lastname: Kara
authors.forename: Gamze
authors.initials: G
authors.lastname: Alayli
authors.forename: Leman
authors.initials: L
authors.lastname: Tomak
mesh_terms: D000368:Aged; D000483:Alleles; D016022:Case-Control Studies; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D047628:Estrogen Receptor alpha / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D015675:Osteocalcin / Q000235:genetics*; D015663:Osteoporosis, Postmenopausal / Q000175:diagnosis / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D018003:Receptors, Calcitonin / Q000235:genetics*; D014421:Turkey
chemical_list: D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D047628:Estrogen Receptor alpha; D018003:Receptors, Calcitonin; D015675:Osteocalcin