The Relationship Between ER Gene Polymorphisms And Postmenopause Osteoporosis In Southern Chinese Women

Objective: Genetic factors are important in the pathogenesis of osteoporosis. Estrogen and the estrogen receptor (ER) play a central role in bone metabolism as illustrated by the loss of bone mass after menopause and the osteopenia in individuals with defect ER. ER gene has been suggested as a gene for regulation of bone mineral density (BMD). Pvu II and Xba I restriction fragment length polymorphisms (RFLP) for the ER gene and its relation to osteoporosis were examined by case-control study in southern Chinese postmenopause women .Methods: In 182 southern Chinese postmenopause women (case group 91,controlgroup 91) , aged 45-70 (average 56.2 years) , BMD of lumber spine, femoral neck and distal radius were measured by duel energy X-ray absorptionary . Pvu II and Xba I restriction fragment length polymorphisms (RFLP) of ER were analysed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) . The RFLP were represented as P or p (Pvu II) and X or x (Xba I), with capital letters signifying the absence of and small letters the presence of restriction sites .The relationship between polymorphism of ER genotype and BMD, the distribution of ER genotype between case group and control group were evaluated.Results: The distribution of BMD like this: PPXx>xx. In fourgenotype of PP, xx PPxx and Ppxx, BMD were significant lower than those in other genotype .The distribution of PP and xx and Ppxx, PPxx in osteoporosis group were significantly higher than in the control group. OR was 2.46, 2.97, 2.20 and 15 in PP, xx, Ppxx and PPxx dividedly. In delamination analysis, there were significant difference between case group and control group in PP and PPxx genotype distribution at lumber spine and femoral neck and distal radius, and in xx genotype distribution at femoral neck and distal radius, in Ppxx genotype distribution at lumber spine and distal radius.Conclusion: RFLP of ER gene associated with BMD in southern Chinesepostmenopause women. We found that in difference place the effect of gene was different. In the same place the effect of gene was difference strong. So this can beused to select high risk population for prevention of osteoporosis.