The Relationship between the G395A Polymorphism in Promoter of the KLOTHO Gene with Cardiovascular Risk Factors and Bone Mineral Metabolism in Korean Women

ABSTRACT

BACKGROUND: A novel gene, termed klotho, has been identified as a suppressor of several aging phenotypes, a genetic defect in klotho in mice resulted in a syndrome resembling human aging, i.e., arteriosclerosis and osteoporosis, but the relationship between KLOTHO gene with cardiovascular system and bone metabolism in human populations is unclear. Thus, the aim of this study was to investigate the relationship between the KLOTHO polymorphism with cardiovascular risk factors and bone metabolism in Korean women. METHODS: In 243 women(mean age, 51.2+/-6.9 yr), cardiovascular risk factors and bone turnover markers were measured using standard methods. Bone mineral densities(BMD) were measured by dual energy X-ray absorptiometry. The genotyping of the KLOTHO G395A polymorphism were performed by allelic discrimination using a 5' nuclease polymerase chain reaction assay. RESULTS: Allele frequencies were 0.829 for the G allele and 0.171 for the A allele, which was in Hardy-Weinberg equilibrium. Mean systolic blood pressure(BP) was significantly higher in A allele carriers compared with non-carriers. In logistic regression analysis with the cardiovascular risk factors as the independent variable, only systolic BP was identified as a significant variable for A allele carriers. Mean lumbar spine BMD was significantly lower in A allele carriers compared with non-carriers. This difference became marginally significant after adjustment for age and BMI. CONCLUSION: We observed that the KLOTHO G395 polymorphism is related with BP in Korean women. Also, these data suggest that the KLOTHO G395 polymorphism was marginally associated with lumbar spine BMD in Korean women.