北京地区汉族女性Cbfa1基因多态性与骨密度相关性研究  

Association of core binding factor α1 gene polymorphism with bone mineral density of Han nationality women in Beijing area

作　　者：裴育[1,2] 孟迅吾[1] 周学瀛[1] 邢小平[1] 夏维波[1] 李梅[1] 宁志伟[3] 于丽云[4] 刘怀成[1] 胡莹莹[1] 

机构地区：[1]中国医学科学院北京协和医学院北京协和医院内分泌科卫生部内分泌重点实验室,北京100730 [2]中国人民解放军总医院老年内分泌科,北京100853 [3]北京市朝阳医院内分泌科,北京100025 [4]北京市电力医院麻醉科,北京100073

出　　处：《中华骨质疏松和骨矿盐疾病杂志》2009年第3期176-182,共7页Chinese Journal Of Osteoporosis And Bone Mineral Research

摘　　要：目的了解北京地区汉族女性核心结合因子α1(core binding factorα1,Cbfal)基因多态性的分布,并分析其与骨密度的相关性。方法利用异源双链分析技术和直接测序方法,检测北京地区204名无亲缘关系的女性受试者的Cbfa1基因型。受试者中,30-39岁年轻妇女91名(35±3岁),自然停经1年以上的绝经后妇女113名(63±8岁)。研究对象的骨密度(BMD)采用双能x线骨密度仪(DXA)进行测量。测量部位包括腰椎1-4、股骨颈、Wards三角区及大转子部位。结果 (1)北京地区汉族女性Cbfa1基因型分布频率依次为G/G占85.3%,G/A占8.3%,A/A占1.0%,G/11Ala占3.9%,A/11Ala占1.0%,11Ala/11Ala占0.4%。Cbfa1等位基因频率为G占94.4%,A占5.6%。(2)校正了年龄、身高、体重和BMI的协方差分析显示,北京地区汉族妇女股骨颈部位和Wards三角区G/A基因型的BMD较G/G基因型高(分别为0.896±0.168比0.823±0.148和0.759±0.236比0.714±0.200g/cm^2;P=0.002,0.036)。独立样本T检验结果显示,股骨颈部位含A等位基因组BMD高于不含A等位基因组(0.901±0.153比0.821±0.148g/cm^2,P=0.023)。资料分为青年妇女组和绝经后妇女组进一步分析,结果提示青年妇女组股骨颈部位和Wards三角区G/A基因型的BMD较G/G基因型高(1.017±0.167比0.924±0.103,0.967±0.172比0.861±0.131g/cm^2;P=0.031,0.046);而在绝经后妇女组,仅股骨颈部位存在A等位基因的保护作用(0.802±0.097比0.730±0.119g/cm^2,P=0.044)。结论 (1)北京地区汉族女性Cbfa1基因型,以G等位基因频率为主。(2)北京地区汉族妇女股骨颈部位和Wards三角区骨密度G/A基因型者较G/G基因型者高,A等位基因对BMD具有保护作用,它有利于青年妇女峰值骨量的获得。Objective To investigate the distribution of Cbfal gene polymorphism in Han nationality women in Beijing area and to explore the association of Cbfal genotypes and bone mineral density in healthy women. Methods We recruited 204 healthy citizens in Beijing area, including 91 women aged 30 - 39 years （ 35 ± 3 ） and 113 postmenopausal women （63 ±8）. Heteroduplex analysis by 7. 5% PAGE was used to determin the Cbfal genotypes. Then, all the llAla homozygotes, 11Ala/17Ala heterozygotes and about 20% 17Ala/17Ala homozygotes were sequenced to conform the Cbfal genotypes. BMD was measured at the spine and proximal femur by dual-energy X-ray absorptiometry （DXA, DPX-L, Lunar）. Results （ 1 ） The Cbfal genotype frequencies of Han nationality women in Beijing area were G/G 85.3%, G/A 8. 3%, A/A 1.0%, G/11Ala 3.9%, A/11Ala 1.0% and 11Ala/11Ala 0. 4%. The G, A alleles frequencies were 94. 4% and 5.6%. （2） The effect of the Cbfal genotypes on BMD were examined using ANCOVA to adjust for age, height, weight and BMI. Examination of BMD values suggested that G/A heterozygotes had higher BMD than G/G hommozygotes at femoral neck and Ward＇s triangle in Beijing women （0. 896 ±0. 168 vs 0.823±0.148, 0.759 ±0. 236 vs 0.714 ±0.200g/cm^2; P=0.002, 0.036）. Carriers of the A allele （A/A homozygotes, G/A heterozygotes and A/ 11Ala heterozygotes） were compared with A allele noncarriers （G/G homozygotes and G/11Ala heterozygotes） by T test. A allele carriers had significantly higher BMD at femoral neck compared with A allele nonearriers （ 0. 901±0. 153 vs 0. 821 ± 0. 148g/cm^2, P = 0. 023 ）. For further analysis, all female eases were divided into young and postmenopausal women groups. The G/A heterozygotes had higher BMD than G/G hommozygotes at femoral neck and Ward＇s triangle in young women group （ 1. 017±0. 167 vs 0.924 ±0. 103, 0. 967 ±0. 172 vs 0. 861 ± 0. 131g/cm^2 ; P = 0. 031, 0. 046）. In postmenopausal women group, the G/A beterozygotes had higher BMD than G/G hommozygotes at f

关 键 词：核心结合因子α1基因 基因多态性 骨密度 

分 类 号：Q343.13[生物学—遗传学]