ESTROGEN RECEPTOR GENE POLYMORPHISM AS A GENETIC DETERMINANT OF BONE MASS
作者单位：Minitstry of FinanceTokyo Hospital Department of GeriatricsFaculty of MedicineUniversity of Tokyo Research Institute and Practice for Involutional Diseases
会议名称：《第二届国际骨质疏松研讨会》
会议日期：1995年
学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学]
摘 要：正The pathogenesis of postmenopausal osteoporosis should be related to variations in the response to estrogen deficiency which may reflect genetically determined variations in biosynthesis and/or function of estrogen *** examined the relationship between polymorphisms of estrogen receptor（ER） gene and bone mineral density（BMD） and bone metabolic markers in postmenopausal women. Restriction fragment length polymorphisms（RFLPs） of ER gene and its relation to BMD were examined in 121 postmenopausal healthy women（66.7±0.9 yr,mean±standard error of the mean） in *** RFLPs were represented as Pp（PvuII） and Xx（XbaI）,capital letters signifying the absence of,and small letters the presence of restriction *** the PPxx genotype,Z score values of BMD were significantly lower（lumbar spine;p=0.005,total body;p=0.013） than those for other *** Px haplotype was associated with a low BMD in postmenopausal *** relationship of dinucleotide repeat polymorphisms in the upstream of ER gene and BMD as well as bone metabolic markers was also detected in the same population of *** data suggest that some variation of the ER gene linked to these genetic markers may be associated with the pathogenesis of postmenopausal osteoporosis and may be used to explain some genetic backgrounds for this disease in Japanese women.