绝经后妇女护骨素基因G1181C多态性与骨密度变化相关  

Association between the G1181C polymorphism of osteoprotegerin gene and bone mineral density in postmenopausal women

作　　者：赵红燕[1] 刘建民[1] 宁光[1] 宋怀东[1] 陈瑛[1] 张连珍[1] 孙立昊[1] 赵咏桔[1] 许曼音[1] 陈家伦[1] 

机构地区：[1]上海第二医科大学附属瑞金医院内分泌代谢病科,上海市内分泌代谢病临床医学中心,上海市内分泌代谢病研究所,200025

出　　处：《中华内分泌代谢杂志》2005年第1期55-58,共4页Chinese Journal of Endocrinology and Metabolism

基　　金：教育部高等学校骨干教师资助计划 ( 00TPJS111 );上海市教育委员会重点学科建设经费(2003 44)

摘　　要：　目的　寻找护骨素基因(OPG)外显子中的单核苷酸多态性 (SNP),并分析其与绝经后妇女骨密度的关系。方法　在 205名绝经后妇女中,采用PCR和直接测序法确定OPG基因的SNP及基因型。应用双能X线骨密度仪测定腰椎和股骨颈骨密度 (BMD)。同时检测血清骨钙素 (BGP)、尿Ⅰ型胶原交联N端肽(NTx),以及血清护骨素(OPG)和核因子κB受体活化子配体 (RANKL)。结果　在OPG基因第一外显子中发现一个G1181C的SNP,该SNP的基因型频率分布依次为GG型占 0. 566、GC型 0. 346、CC型0. 088。去除年龄和体重的影响后,CC型的腰椎BMD明显高于GC和GG型 (P<0. 05),多元回归分析提示OPG基因型与绝经后妇女腰椎、股骨颈BMD相关 (P<0. 01)。Logistic回归分析显示OPG基因是绝经后妇女发生骨量减少和骨质疏松的独立危险因子,GG型发生骨量减少和骨质疏松的危险是CC型的 2. 83倍(P<0. 05)。结论　OPG基因的G1181C多态性与绝经后妇女BMD存在一定的关联,CC型对绝经后妇女腰椎BMD具有保护作用。Objective To search the single nucleotide polymorphism (SNP) in exons of osteoprotegerin gene, and to analyse the relationship between SNP and bone mineral densities (BMD) in postmenopausal women. Methods Using PCR and direct sequencing to identify SNP and genotypes in 205 postmenopausal women. BMD at lumbar spine (L 2 4 ) and femoral neck (FN) were measured by dual energy X ray absorptiometry. Serum osteocalcin (BGP), osteoprotegerin (OPG), osteoprotegerin ligand (RANKL) and urinary N telopeptides of type Ⅰ collagen (NTx) were also measured. Results One SNP, G1181C, was found in exon 1 of OPG gene. The frequencies of G1181C genotypes in 205 postmenopausal women were 0.566, 0.346, and 0.088 for the genotypes GG, GC and CC respectively. BMD at lumbar spine (L 2 4 ) of CC genotype was significantly higher than GC and GG genotypes (P<0.05) after adjustment for age and weight. Multiple regression analysis showed that OPG genotypes were associated with L 2 4 and FN BMD (P<0.01). Logistic regression revealed that OPG gene was a relative risk factor for osteopenia and osteoporosis in postmenopausal women, and women with genotype GG had a 2.83 times greater risk for osteopeniaandosteoporosisthanwomenwith genotype CC (P<0.05). Conclusion G1181C polymorphism in exon 1 of OPG gene is associated to some extent with BMD in postmenopausal women. While genotype CC may have some beneficial effect on lumbar spine (L 2 4 ) BMD in postmenopausal women.

关 键 词：绝经后妇女 OPG BMD 护骨素 腰椎 基因 骨密度 单核苷酸多态性(SNP) 受体活化 外显子 

分 类 号：R58[医药卫生—内分泌]