The Genetic Study Of Osteporosis In Chinese Population

Osteoporosis is a common metabolic bone disorder characterized by reduced bone mass, microarchitectural deterioration, increased skeletal fragility and, as a consequence, increased bone fracture. With aging of the population in worldwide, the prevalence of osteoporosis increases rapidly and it will be a huge financial burden to all the countries. Bone mineral density (BMD), one of the important predicative factors for osteoporosis and its consequent bone fracture, has widely been used as a surrogate variable in the genetic study of osteoporosis. Genetic linkage analysis and candidate gene association studies in BMD have implicated several loci and candidate genes, but the findings in different studies were inconsistent. So genes that contribute to genetic susceptibility to osteoporosis remain to be elucidated.[Study Aim] This study is part of a large community-based genetic epidemiology of osteoporosis in China. The aim of this investigation was to detect the association of the polymrophisms in several functional candidate genes with BMD and fracture: 1) to verify the association of the MTHFR C677T polymorphism with BMD and fractures in our Chinese postmenopausal women; 2) to verify the association of the polymorphisms in the IL1B gene and the IL1RN gene with BMDs at different skeletal sites; 3) to detect whether the polymorphisms in the CYP19A1 gene and the ESR1 gene were associated with BMD at different skeletal sites; [Method] Among residents of two counties in Anhui Province, China, men and women with (1) aged 25-64 years and (2) a minimum of three participating siblings were recruited and the osteoporosis cohort were set up. The subjects in this study were chosen from this cohort. Only postmenopausal women were selected and studied in the first part of the study, and in the rest two parts of the study, 2385 subjects with extreme low or high femoral neck BMD were selected. Dual X-ray absorptionmetry was used to measure BMD. Information on each participart's age, gender, bone fracture, cigarrate smoking, alcohol consuming, menstrual and reproductive history, and consumption of local food items/groups were collected by a standardized questionnaire. All the analyses were done with the SAS 8.0 software.