@article{MTMT:1335565, title = {Lack of association between calcium-sensing receptor gene "A986S" polymorphism and bone mineral density in Hungarian postmenopausal women.}, url = {https://m2.mtmt.hu/api/publication/1335565}, author = {Takács, István and Speer, Gábor and Bajnok, Éva and Tabák, Ádám and Nagy, Zsolt and Horváth, Csaba and Kovacs, K and Lakatos, Péter}, doi = {10.1016/S8756-3282(02)00741-X}, journal-iso = {BONE}, journal = {BONE}, volume = {30}, unique-id = {1335565}, issn = {8756-3282}, abstract = {Calcium-sensing receptor (CaSR) is an attractive candidate gene for osteoporosis susceptibility. The CaSR "A986S" genotype has been shown to have an effect on serum calcium. Recently, an association has been reported between the CaSR gene A986S polymorphism and bone mineral density in healthy white girls. In this study, we examined whether CaSR gene A986S polymorphism is associated with decreased bone mass in 230 Hungarian postmenopausal women. From this cohort, 108 osteoporotic patients were compared with 122 healthy control women. Bone mineral density (BMD) was measured at the lumbar spine (L2-4) and femoral neck using dual-energy X-ray absorptiometry. Allele-specific polymerase chain reaction was used to amplify A986S polymorphisms of the CaSR gene. We found no difference in the distribution of different alleles or genotypes between groups (p = 0.762). No significant effect of CaSR genotype on BMD was observed either in the whole population or in the subgroups. Our data do not support the idea that CaSR gene A986S polymorphism has an impact on bone mass.}, keywords = {Aged; Female; Middle Aged; Humans; ALLELES; Hungary/epidemiology; Analysis of Variance; Genotype; Cohort Studies; Polymorphism, Genetic/*genetics; Calcium/*metabolism; Receptors, Cell Surface/*genetics; Bone Density/*genetics; Amino Acid Substitution/*genetics; Alanine/genetics; Serine/genetics; Receptors, Calcium-Sensing; Osteoporosis, Postmenopausal/epidemiology/*genetics; Lumbar Vertebrae/physiology; Femur/physiology}, year = {2002}, eissn = {1873-2763}, pages = {849-852}, orcid-numbers = {Takács, István/0000-0002-7810-4833; Tabák, Ádám/0000-0002-6234-3936; Nagy, Zsolt/0000-0002-9648-1851; Horváth, Csaba/0000-0002-0490-7932; Lakatos, Péter/0000-0002-7652-3671} } @article{MTMT:1802080, title = {Sibling pair linkage and association studies between bone mineral density and the insulin-like growth factor I gene locus}, url = {https://m2.mtmt.hu/api/publication/1802080}, author = {Takács, István and Koller, D L and Peacock, M and Christian, J C and Hui, S L and Conneally, P M and Johnston, Jr C C and Foroud, T and Econs, M J}, doi = {10.1210/jcem.84.12.6179}, journal-iso = {J CLIN ENDOCR METAB}, journal = {JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM}, volume = {84}, unique-id = {1802080}, issn = {0021-972X}, abstract = {A major determinant of the risk for osteoporosis in later life is bone mineral density (BMD) attained during early adulthood. BMD is a complex trait that presumably is influenced by multiple genes. Insulin-like growth factor I (IGF-I) is an attractive candidate gene for osteoporosis susceptibility, because IGF-I has marked effects on bone cells and has been implicated in the pathogenesis of osteoporosis. The IGF-I gene contains a microsatellite repeat polymorphism approximately 1 kb upstream from the IGF-I gene transcription start site, and previous investigators have found a higher prevalence of the 192/192 genotype of this polymorphism among men with idiopathic osteoporosis compared to controls. In this study we used this IGF-I polymorphism to test for an association between this polymorphism and BMD in our large population of premenopausal women (1 sister randomly chosen from 292 Caucasian and 71 African-American families). We also used this polymorphism to detect linkage to BMD elsewhere in the IGF-I gene or in a nearby gene using sibling pair linkage analysis in healthy premenopausal sister pairs (542 sibling pairs: 418 Caucasian and 124 African-American). Neither test provided any evidence of linkage or association between the IGF-I gene locus and spine or femoral neck BMD in Caucasians or African Americans.}, keywords = {Adult; Female; Male; Humans; DNA; ARTICLE; Polymorphism, Genetic; Pathogenesis; human; Genotype; genetic linkage; gene locus; Microsatellite Repeats; genetic association; Genetic Predisposition to Disease; priority journal; clinical article; Bone Density; Insulin-Like Growth Factor I; somatomedin C; Femur; spine; osteoporosis; lumbar spine; sibling; bone mineral; DNA polymorphism; Femur Neck; premenopause; Nuclear Family; Lod Score}, year = {1999}, eissn = {1945-7197}, pages = {4467-4471}, orcid-numbers = {Takács, István/0000-0002-7810-4833} }