Relation of polymorphism in the promotor region for the human osteocalcin gene to bone mineral density and occurrence of osteoporosis in postmenopausal Chinese women in Taiwan

Osteoporosis is a common disorder with a strong genetic component. Our aim was to evaluate the correlation of the HindIII osteocalcin gene polymorphis m to bone mineral density (BMD) and their relationship to osteoporosis. We determined the HindIII osteocalcin gene polymorphism using polymerase chain reaction (PCR)-based restriction analysis in postmenopausal Chinese women in Taiwan. The osteocalcin gene polymorphism was detected by the restrictio n enzyme HindIII, where the H allele indicated the absence of the cuttable site and the h allele indicated its presence. We then related the genotypes to BMD and occurrence of osteoporosis in these women. The allelic frequenc ies for postmenopausal Chinese women in Taiwan were 64% for h and 36% for H in HindIII restriction fragment length polymorphisms. The prevalence of ea ch genotype in the study population was 37.7% hh, 52.6% Hh, and 9.7% HH. Th e subjects with genotype hh had the greatest BMD at the lumbar spine and th e femoral neck, and those with HH had the smallest BMD at the femoral neck, but these differences did not reach statistical significance. The HindIII osteocalcin genotype showed a significant effect on the prevalence of osteo porosis in the subjects at the femoral neck, that is, women with genotype H H had a 6.4 times greater risk for osteoporosis (P < 0.05), and those with genotype Hh had a 1.2 times greater risk than women with genotype hh. In co nclusion, the HindIII osteocalcin gene polymorphism Is associated with redu ced BMD and predisposes women to osteoporosis at the femoral neck. (C) 2001 Wiley-Liss, Inc.