雌激素β受体基因多态性与青少年特发性脊柱侧凸关系的研究

摘要

Objective To detect the genotype distribution of estrogen β receptor (ER β) gene in adolescent idiopathic scoliosis (AIS) patients and the control group.To investigate whether ER β gene is associated with the susceptibility, abnormal growth pattern or low bone mass in AIS patients.Methods 288 AIS patients (17 males, 271 females) and 232 age-matched healthy adolescent (30 males, 202 females) were involved in the present study from March 2006 to March 2007.The blood samples were harvested from all the subjects.Anthropometric parameters including age, body height, weight, arm span, age of menarche, Cobb angle and Risser sigh were recorded in AIS patients.Polymerase chain reaction -restriction fragment length polymorphism (PCR-RFLP) technique was used for the genotyping of two polymorphisms (rsl256049, rs4986938) in ER β gene.Genotype frequencies were compared between AIS patients and control group, and also between different AIS subgroups.x2 test were used for the comparison.Results The ER β genotype frequencies were comparable between AIS patients and control group (P >0.05).In AIS patients, the Rr genotype in patients whose menarche age was ≥12 years was higher than those whose menarche age was <12 years (x2=5.908, P<0.05), but there were no significantly difference in the genotype distribution between different body height, body mass index (BMI), arm span, Cobb angle and Risser sign.There was also no significant difference of the bone mass between different genotypes in AIS patients.Conclusion There is no significant association between ER β gene and susceptibility for AIS.Rr genotype seems to play an important role in the progression of AIS patients.There is no correlation between ER β gene polymorphism and bone mass.Low bone mass in AIS patients merits further study.%目的 比较分析青少年特发性脊柱侧凸(adolescent idiopathic scoliosis,AIS)患者与对照组雌激素β受体(estrogen β receptor,ER β)基因型分布情况,探讨ER β基因多态性与AIS患者易感性、异常生长模式及低骨量之间的关系.方法 对2006年3月至2007年3月的288例(男17例,女271例)AIS患者进行人体形态学测量,记录其年龄、身高、体重、臂长、月经初潮情况、Cobb角、Risser征等指标,并收集其静脉血标本.经体检收集232名(男30名,女202名)健康青少年静脉血标本.应用聚合酶链反应-限制性片断长度多态性技术(PCR-RFLP)检测分析AIS组及正常青少年组ER β基因型,比较两组间及AIS组内各亚组ER β基因型分布情况.结果 AIS组与对照组ER β基因型分布差异无统计学意义(χ2=5.908,P＞0.05).AIS组内比较,初潮年龄≥12岁组Rr型频率高于初潮年龄＜12岁组(P＜0.05),而根据身高、体重指数(BMI)、臂长、Cobb角、Risser征等分组,基因型分布比较差异无统计学意义(P＞0.05).ER B基因两个多态性位点各基因型间所对应的骨密度比较差异无统计学意义(P＞0.05).结论 ER β基因多态性与AIS患者易感性无关联.Rr型患者存在初潮延迟现象,可能在AIS的进展中起一定作用.ER β基因多态性与骨量无相关,可能在AIS的低骨量中不起作用.