CAJ | 학술논문

目的:探讨瘦素基因启动子区-2548G/A(m7799039)基因多态性与女性青少年特发性脊柱侧凸(adoles-cent idiopathic scoliosis,AIS)发生发展、异常生长模式及侧凸类型之间的相关性.方法:收集451例AIS女性患者及335例正常同龄女性青少年的静脉血标本,采用PCR-RFLP方法对两组的瘦素基因启动子区-2548G/A(rs7799039)多态性位点进行基因分型,比较两组间基因分型的差异,分析AIS组中基因分型与患者Cobb角和人体测量学指标的关系.结果:AIS组rs7799039位点基因型和等位基因频率与正常对照组之间无明显差异;在AIS组内,rs7799039位点不同基因型所对应的初诊Cobb角、校正身高、BMI、月经初潮年龄及Risser征均没有显著性差异;rs7799039位点等位基因多态性分布情况在不同侧凸类型AIS患者和对照组之间无统计学差异.结论:瘦素基因启动子区-2548G/A(rs7799039)基因多态性与女性AIS的发生发展、异常生长模式及不同侧凸类型之间都没有明显的相关性.
목적:탐토수소기인계동자구-2548G/A(m7799039)기인다태성여녀성청소년특발성척주측철(adoles-cent idiopathic scoliosis,AIS)발생발전、이상생장모식급측철류형지간적상관성.방법:수집451례AIS녀성환자급335례정상동령녀성청소년적정맥혈표본,채용PCR-RFLP방법대량조적수소기인계동자구-2548G/A(rs7799039)다태성위점진행기인분형,비교량조간기인분형적차이,분석AIS조중기인분형여환자Cobb각화인체측량학지표적관계.결과:AIS조rs7799039위점기인형화등위기인빈솔여정상대조조지간무명현차이;재AIS조내,rs7799039위점불동기인형소대응적초진Cobb각、교정신고、BMI、월경초조년령급Risser정균몰유현저성차이;rs7799039위점등위기인다태성분포정황재불동측철류형AIS환자화대조조지간무통계학차이.결론:수소기인계동자구-2548G/A(rs7799039)기인다태성여녀성AIS적발생발전、이상생장모식급불동측철류형지간도몰유명현적상관성.
Objective:To investigate the association of -2548G/A(rs7799039) functional polymorphism in the promoter region of leptin gene with abnormal growth pattern in girls with adolescent idiopathic scoliosis(AIS). Method:Blood samples were obtained from 451 female AIS patients and 335 female healthy adolescents.An-thropometric parameters of AIS group including age,body height,weight,Cobb angle,time of menarche and Risser sign were recorded.Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used to detect and analyze leptin gene distribution in AIS group and control group.The anthro-pemetric data (body height,BMI,time of menarche and Risser sign),Cobb angle and genotypes of leptin gene polymorphism for AIS patients and normal subjects were also compared.Result:The genotype and allele fre-quency distribution were comparable between AIS and normal control.There was no association with curve severity,body height,time of menarche,Risser sign and BMI in AIS patients.Between the AIS patients grouped according to the curve pattern and the controls,there was no difference on the distribution of rs7799039 site pelymorphism.Conclusion:-2548G/A functional polymorphism in the promoter region of leptin gene is neither associated with the occurrence or the curve severity of AIS girls nor different curve pattern groups of the AIS.