雌激素受体基因多态性与中国南方妇女绝经后脊柱骨质疏松症的关系

The relationship between ER gene polymorphisms and postmenopause osteoporosis of spine in southern Chinese women

目的 对中国南方绝经后妇女雌激素受体（ER）基因PvuⅡ和XbaⅠ核酸限制性内切酶多态性与脊柱骨质疏松的关系进行病例一对照调查，了解ER基因多态性与妇女绝经后脊柱骨质疏松的关系。方法 182名中国南方绝经后妇女，均用DEXA检测腰椎（L2-5）的骨密度，用PCR—RFLP鉴定雌激素受体的基因型。分析ER基因多态性与骨密度关系以及各基因型在骨质疏松组与对照组的分布。结果 骨密度呈以下分布规律：PP〈Pp〈PP、xx〈Xx〈XX。PP，PPxx，Ppxx的骨密度较其他基因型低。在分层分析中，表明PP型及复合基因型PPxx及Ppxx型在脊柱的骨质疏松组中的分布频率高于对照组，差异有显著性（P〈0．01）。结论 ER基因PvuⅡ和XbaⅠ核酸限制性内Ⅵ酶多态性与骨质疏松存在关系，可以将ER基因PvuⅡ和Xbal多态性作为在中国南方进行筛选绝经后脊柱骨质疏忪高危人群的依据之一。

Objective To study the relationship between ER gene polymorphism and postmenopause osteoporosis of lumbar spine in southern chinese women by case-control study of Pvu Ⅱ and Xba Ⅰ restriction fragment length polymorphisms（RFLP） for the ER gene and to determine is relation to osteoporosis in southern Chinese postmenopause women. Methods In 182 southern Chinese postmentopause women,the BMD（ bone mineral density） of lumbar spine was measured by dual energe X-ray absorptionary. Pvu Ⅱ and Xba Ⅰ restriction fragment length polymorphisms（RFLP） of ER were analysed by polymerase chain 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 site. The relationship between ER genotype and BMD, the distribution of ER genotype between case group and control group were evaluated. Results The distribution of BMD like this： PP 〈 Pp 〈 pp, xx 〈 Xx 〈 XX. In three genotype of PP, PPxx, Ppxx, BMD were significant lower than those other genotype. In delamination analysis, there were significant differences between case group and control group in PP, PPxx, Ppxx genotype distribution at lumbar spine（ P 〈 0.01 ）. Conclusions RFLP of ER gene is associated with BMD in southern Chinese postmenopause women. The polymorphism of Pvu Ⅱ and Xba Ⅰof ER gene can be used to select high risk population for prevention of osteoporosis.