title: Relation of BsmI vitamin D receptor gene polymorphism to bone mineral density and occurrence of osteoporosis in postmenopausal Chinese women in Taiwan.
abstract: Osteoporosis is a common disorder with a strong genetic component. Our aim was to evaluate the correlation of the vitamin D receptor gene intron 8 BsmI polymorphism with bone mineral density (BMD) and their relationship to osteoporosis. We determined the vitamin D receptor gene intron 8 BsmI polymorphfsm using polymerase chain reaction-based restriction analysis in 171 postmenopausal Chinese women in Taiwan. The polymorphism was detected using the restriction enzyme BsmI, where the B allele indicated absence of the cuttable site and the b allele its presence. BMD of the lumbar spine and proximal femur were measured using dual-energy X-ray absorptiometry. The allelic frequencies for postmenopausal Chinese women in Taiwan were 12.3% for B and 87.7% for b in BsmI restriction fragment length polymorphisms. The prevalence of each genotype in the study population was: 6.4% BB, 11.7% Bb and 81.9% bb. The three genotypic groups differed significantly in BMD at the lumbar spine and the femoral neck. These differences corresponded to significant gene-dose effects at the lumbar spine and femoral neck (p<0.001 for both sites). The relative risk for the development of osteoporosis was about 2-3 times as great as that predicted by the differences between genotypes in BMD, and remained significant even after adjustment for age, height and weight. The vitamin D receptor gene intron 8 BsmI polymorphism is associated with reduced BMD and predisposes women to osteoporosis.
authors.affiliation: Department of Obstetrics and Gynecology, China Medical College Hospital, School of Medicine, China Medical College, Taichung, Taiwan.
authors.forename: H Y
authors.initials: HY
authors.lastname: Chen
authors.forename: W C
authors.initials: WC
authors.lastname: Chen
authors.forename: C D
authors.initials: CD
authors.lastname: Hsu
authors.forename: F J
authors.initials: FJ
authors.lastname: Tsai
authors.forename: C H
authors.initials: CH
authors.lastname: Tsai
authors.forename: C W
authors.initials: CW
authors.lastname: Li
mesh_terms: D000368:Aged; D000375:Aging / Q000502:physiology; D015519:Bone Density / Q000235:genetics*; D015252:Deoxyribonucleases, Type II Site-Specific / Q000235:genetics*; D005260:Female; D005272:Femur Neck / Q000503:physiopathology; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008159:Lumbar Vertebrae / Q000503:physiopathology; D008875:Middle Aged; D015663:Osteoporosis, Postmenopausal / Q000235:genetics* / Q000503:physiopathology; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic; D018167:Receptors, Calcitriol / Q000235:genetics*
chemical_list: D018167:Receptors, Calcitriol; C053864:endodeoxyribonuclease BsmI; D015252:Deoxyribonucleases, Type II Site-Specific