Associations of catalase gene polymorphisms with bone mineral density and bone turnover markers in postmenopausal women

• Published in: Journal of medical genetics 2007-01, Vol.44 (1), p.e62-e62
• Main Authors: Oh, Bermseok, Kim, Shin-Yoon, Kim, Duk Jae, Lee, Jong Yong, Lee, Jong-Keuk, Kimm, Kuchan, Park, Byung Lae, Shin, Hyoung Doo, Kim, Tae-Ho, Park, Eui Kyun, Koh, Jung-Min, Kim, Ghi Su
• Format: Article
• Language: English
• Subjects: Aged; Alkaline Phosphatase - blood; Alzheimer's disease; Asian Continental Ancestry Group - genetics; Atherosclerosis; BMD; Bone density; Bone Density - genetics; bone mineral density; Calibration; CAT; Catalase - genetics; catalase gene; Diabetes; Disease; Electronic Letter; Female; Fractures; Genetic Markers; Genetic testing; Haplotypes; Humans; Metabolism; Middle Aged; Osteocalcin - blood; Osteoporosis; Osteoporosis, Postmenopausal - genetics; Osteoporosis, Postmenopausal - metabolism; Oxidative Stress; Polymerase chain reaction; Polymorphism, Single Nucleotide; reactive oxygen species; ROS; single-nucleotide polymorphism; SNP; Spine - pathology; Womens health; years since menopause; YSM
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.2006.042259

Background: Oxidative stress has been recently suggested to play a part in the development of osteoporosis. Catalase is a major antioxidant enzyme that detoxifies hydrogen peroxide by converting it into water and oxygen, thereby preventing cellular injury by oxidative stress. Aims: To examine the associations between the catalase gene (CAT) polymorphisms and bone mineral density (BMD) and bone turnover markers in postmenopausal Korean women. Methods: All exons, their boundaries and the promoter region (approximately 1.5 kb) were directly sequenced in 24 individuals. Among 18 variants identified by a direct sequence method, four polymorphisms were selected and genotyped in all study participants (n = 560). BMD at the lumbar spine and proximal femur was measured using dual-energy x ray absorptiometry. Serum osteocalcin concentrations and bone-specific alkaline phosphatase activity were determined by an immunoradiometric assay and an immunoassay, respectively. Results: The mean (standard deviation) age of the participants was 59.4 (7.2) years. Multivariate analysis showed an association of the +22348C→T polymorphism with BMD at the lumbar spine (p = 0.01 in the dominant model) and at femur neck (p = 0.05 in the dominant model), and with serum osteocalcin level (p = 0.008 in the dominant model). Haplotype analyses showed that HT4 (−20T, +144C, +22348T, +33078A) was significantly associated with higher BMD at various sites (p