护骨素基因多态性对青春前期女童骨量的影响

EFFECT OF OSTEOPROTEGERIN GENE POLYMORPHISM ON BONE MASS IN PREMENARCHE GIRLS

目的:了解护骨素(osteoprotegerin,OPG)基因启动子区A163G、T245G和T950C位点多态性对青春前期汉族女童骨密度(BMD)的影响。方法:采用PCR-RFLP技术检测广州地区214名青春前期女童护骨素基因三个位点的基因型。采用双能X线骨密度仪测量全身、腰椎(L1-4)、股骨颈和Ward三角区骨矿含量(BMC)和骨密度。同时测定三种骨代谢生化指标。结果:OPG基因启动子区A163G、T245G和T950C位点基因型分布频率均符合Hardy-Weinberg遗传平衡定律,分布频率分别为:A163G:AA-74.8%,AG-21.5%,GG-3.7%;T245G:TT-77.1%,TG-21.5%,GG-1.4%;T950C:TT-41.1%,TC-50.5%,CC-8.4%。T950C位点CC基因型女童的全身骨量、骨密度及股骨颈和Ward三角区骨密度均显著高于TT、TC基因型女童(P<0.05),而TT和TC基因型女童未见显著差异(P>0.05)。A163G和T245G位点多态性与女童BMC和BMD的相关性未发现有统计学意义(P>0.05)。结论:护骨素基因T950C位点含有T等位基因的青春前期女童,其全身骨密度及股骨颈和Ward’s三角区骨密度均较低,该等位基因可能为我国青春期女童低骨量者筛选的遗传学标志提供了研究方向。

Objective： To investigate the effects of promoter region A163G,T245G and T950C polymorphisms of osteoprotegerin （OPG） gene on bone mineral density （BMD） in premenarche girls. Method： The OPG genotypes were determined by PCR-RFLP in 214 premenarche girls of Han nationality in Guangzhou area , and BMC and BMD at lumbar spine（L1-4）, femoral neck, Ward’s triangle area and total BMD were measured by dual-energy X-ray absorptiometry（DEXA）. Three markers of bone turnover were also detected. Results： Hardy-Weinberg equilibrium was evident for OPG polymorphisms. The frequency of three genotypes were as following：A163G：AA-74.8%,AG-21.5%,GG-3.7%;T245G：TT-77.1%, TG-21.5%,GG-1.4%;T950C：TT-41.1%,TC-50.5%,CC-8.4%. The girls with CC genotype had higher BMD at femoral neck , Ward’s triangle area and total BMD than those with TC or TT genotypes. Such difference was not detected between girls with TC genotype and those with TT genotype. Significant link was not observed between A163G、T245G polymorphism with BMD. Conclusion： The premenarche girls with T allele may have lower BMD at femoral neck , Ward’s triangle area and total BMD. The results mayprovide scientific basis for further determining a valuable genetic marker for low bone mass in premenarche girls.