绝经后妇女雌激素受体基因多态性与骨和脂代谢的相关性研究

目的 :研究绝经后妇女雌激素受体 (ER)基因PvuII、XbaI限制性片段长度多态性与骨和脂代谢的关系。方法 :随机选取 5 7名已排除影响骨代谢、脂代谢疾病的绝经后妇女 ,采空腹血和晨尿 ,用PCR RFLP法对ER基因多态性进行分析 ;DEXA测定腰椎正侧位及股骨骨密度 ,同时检测血骨钙素、尿I型胶原N末端肽和血脂指标。结果 :xx组股骨干(SHAFT)骨密度明显低于Xx组 (P <0 .0 5 )。XbaI限制性片段长度多态性与股骨SHAFT骨密度相关 (r =0 .36 7,P =0 .0 39) ;XX组骨钙素高于xx(P =0 .0 4 1)和Xx(P =0 .0 11)组。apoA1含量和A1/B比值在xx、Xx、XX三组递增 ,各组间差异有显著性 (P <0 .0 5 )。Lp(a)与股骨骨密度 (除SHAFT外 )呈负相关。结论 :ER基因XbaI RFLP是影响绝经后妇女骨和脂代谢的重要因素 ;X基因型可维持股骨骨量 ,xx基因型与低apoA1含量和A1/B比值相关 ,Lp(a)也影响股骨骨密度

Relationship of estrogen receptor gene polymorphism and bone metabolism and lipid metabolism in postmenopausal women

Objective:To study the relationship between PvuII, XbaI restriction fragment length polymorphism (RFLP) of estrogen receptor (ER) gene and bone metabolism and lipid metabolism in the postmenopausal women.Methods:57 postmenopausal women who had no diseases of the bone and lipid metabolism were chosen randomly, whose blood and urine samples were collected. PvuII and XbaI RFLP of estrogen receptor gene were detected by PCR RFLP. BMD was measured at lumbar spine and femur by DEXA.At the same time, biochemical markers, such as osteocalcin, NTx and TC, TG, HDL, LDL, apoA1, apoB, Lp (a) were measured.Results:The BMD at femoral shaft of xx genotype was significantly lower than that of Xx genotype(P<0.05) .XbaI RFLP was correlated with BMD at femoral shaft(r=0.367,P=0.039). The BMD of xx genotype at femoral shaft was significantly lower than that of Xx genotype(P<0.05) .XbaI RFLP was correlated with BMD at femoral shaft(r=0.367,P=0.039). Serum level of the osteocalcin was higher in XX genotype than that of xx (P=0.041) and Xx (P=0.011) genotypes. Serum level of apoA1 and ratio of A1/B were gradiently increased in the genotypes of xx,Xx and XX, and the difference of apoA1 and A1/B was significant(P<0.05).The blood level of Lp (a) was negative correlation with femoral BMD except SHAFT.Conclusions:XbaI RFLP of ER gene is major factor to affect bone metabolism and lipid metabolism in postmenopausal women, X genotype can help preserving bone mass of femur, xx genotype related with lower apoA1and A1/B, Lp (a) also affected BMD of femur.