Open AccessRelation 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
Author(s) -
Chen HueyYi,
Tsai HorngDer,
Chen WenChi,
Wu JerYuarn,
Tsai FuuJen,
Tsai ChangHai
Publication year - 2001
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.1036
Subject(s) - hindiii , osteoporosis , genotype , femoral neck , osteocalcin , bone mineral , medicine , endocrinology , allele , restriction fragment length polymorphism , gene polymorphism , allele frequency , bone density , genotype frequency , polymorphism (computer science) , genetics , biology , gene , restriction enzyme , biochemistry , alkaline phosphatase , enzyme
Abstract Osteoporosis is a common disorder with a strong genetic component. Our aim was to evaluate the correlation of the Hind III osteocalcin gene polymorphism to bone mineral density (BMD) and their relationship to osteoporosis. We determined the Hind III 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 restriction enzyme Hind III, 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 frequencies for postmenopausal Chinese women in Taiwan were 64% for h and 36% for H in Hind III restriction fragment length polymorphisms. The prevalence of each genotype in the study population was 37.7% hh, 52.6% Hh, and 9.7% HH. The subjects with genotype hh had the greatest BMD at the lumbar spine and the femoral neck, and those with HH had the smallest BMD at the femoral neck, but these differences did not reach statistical significance. The Hind III osteocalcin genotype showed a significant effect on the prevalence of osteoporosis in the subjects at the femoral neck, that is, women with genotype HH 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 conclusion, the Hind III osteocalcin gene polymorphism is associated with reduced BMD and predisposes women to osteoporosis at the femoral neck. J. Clin. Lab. Anal. 15:251–255, 2001. © 2001 Wiley‐Liss, Inc.