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影响中国女性峰值骨密度的潜在基因间相互作用
引用本文:邓飞艳,龙继蓉,雷署丰,李淼新,邓红文.影响中国女性峰值骨密度的潜在基因间相互作用[J].遗传学报,2005,32(10):1003-1010.
作者姓名:邓飞艳  龙继蓉  雷署丰  李淼新  邓红文
作者单位:1. 湖南师范大学生命科学学院分子与统计遗传学研究室,长沙,410081
2. 美国克瑞屯大学骨质疏松研究中心,生物医学科学中心,内布拉斯加州,68131
3. 湖南师范大学生命科学学院分子与统计遗传学研究室,长沙,410081;美国克瑞屯大学骨质疏松研究中心,生物医学科学中心,内布拉斯加州,68131
基金项目:国家杰出青年科学基金(编号:30025025),国家自然科学基金重点项目(编号:30230210)资助
摘    要:峰值骨密度是由遗传和环境因素及其相互作用共同决定的复杂性状。维生素D受体基因、雌激素α受体基因、白介素6基因、副甲状腺素基因、Ⅰ型胶原α2基因、骨钙素基因、α2巯基糖蛋白基因是与骨代谢相关的7个重要的候选基因。本研究旨在检测这7个候选基因之间的相互作用对中国女性峰值骨密度的影响。样本为中国上海的361个无关、健康的绝经前女性,均为汉族人,年龄为20—44岁。采用Hologic QDR2000+双能X射线扫描仪对腰椎与髋部的骨密度进行了检测。采用聚合酶链式反应-限制性片段长度多态分析方法对每个个体的以下8个多态性标记位点进行基因分型:维生素D受体基因的Apa Ⅰ位点,雌激素α受体基因的PvuⅡ和XbaⅠ位点,白介素6基因的BsrB Ⅰ位点,副甲状腺素基因的BstB Ⅰ位点,Ⅰ型胶原α2基因的Msp Ⅰ位点,骨钙素基因的Hind Ⅲ位点,娃巯基糖蛋白基因的SacⅠ位点。采用二元方差分析对基因相互作用与骨密度的关系进行研究。结果表明,白介素基因和雌激素α受体基因(PvuⅡ)的相互作用对髋部(P=0.019)、转子间区(P=0.016)和股骨颈(P=0.019)的骨密度有显著作用。在这3个部位,GGPp基因型携带者比GGpp基因型携带者的骨密度值分别高出18.0%、19.5%和14.8%。另外观察到醒巯基糖蛋白基因与自介素6基因的相互作用对股骨颈骨密度有显著影响(P=0.046)。GGSS基因型携带者的股骨颈骨密度值比GGSs基因型携带者高出18.8%。该项群体水平的统计分析表明:对于中国女性峰值骨密度的遗传决定,白介素基因和雌激素α受体基因、α2巯基糖蛋白基因的相互作用显著。

关 键 词:峰值骨密度  基因  相互作用  方差分析
文章编号:0379-4172(2005010-1003-08
收稿时间:2004-11-04
修稿时间:2004-11-042005-01-29

Potential Effect of Inter-genic Action on Peak Bone Mass (PBM) in Chinese Females
DENG Fei-Yan,LONG Ji-Rong,LEI Shu-Feng,LI Miao-Xin,DENG Hong-Wen.Potential Effect of Inter-genic Action on Peak Bone Mass (PBM) in Chinese Females[J].Journal of Genetics and Genomics,2005,32(10):1003-1010.
Authors:DENG Fei-Yan  LONG Ji-Rong  LEI Shu-Feng  LI Miao-Xin  DENG Hong-Wen
Abstract:Peak bone mass (PBM) is a complex trait,determined by both genetic and environmental factors and also their interactions. Vitamin D receptor ( VDR), estrogen receptor α ( ERα), interleukin 6 ( IL6), parathyroid hormone (PTH) ,collagen type Ⅰ alpha 2 ( COL1A2), bone Gla protein ( BGP), alpha2-HS glycoprotein (AHSG) are among the important candidate genes of bone metabolism. The study aims to detect significant effect of potential inter-genic action underlying PBM in Chinese females. 361 unrelated healthy premenopausal Chinese females (aged 20 -44 years) with Han ethnicity were recruited from the Shanghai city in China. Bone mineral density (BMD) at the hip and the lumbar spine (L1-4) was measured using a Hologic QDR 2000 + dual-energy X-ray absorptiometry (DXA) scanner. Eight polymorphisms among the seven genes were genotyped,i. e. Apa Ⅰ in VDR, Pvu Ⅱ and Xba Ⅰ in ERα ( ERX and ERP, respectively), BsrB Ⅰ in IL6, BstB Ⅰ in PTH, Msp Ⅰ in COL1A2,Hind Ⅲ in BGP, and Sac l in AHSG, using PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) methods. Two-way analysis of variance (ANOVA) showed significant effects of IL6 × ERP interaction on PBM at the total hip (P=0.019) ,intertrochanter ( P =0.016) ,and femoral neck ( P =0. 019). The BMD difference between GGPp carriers and GGpp subjects (at these two loci) amounted to 18.0% ,19.5% ,and 14.8% at the hip,intertrochanter,and femoral neck,respectively. The potential interaction effect of AHSG × IL6 was observed on femoral neck PBM ( P=0. 046). GGSS individuals (at these two loci)had, on average, 18.8 % higher femoral neck BM D than those subjects with GGSs genotype. The population-level statistical analysis indicates that IL6 × ERP and AHSG × IL6 have significant inter-genic effect on the genetic determination of PBM in Chinese females.
Keywords:peak bone mass (PBM)  gene  interaction  analysis of variance
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