RUNX2基因多态性与中国北方汉族青少年特发性脊柱侧凸的关联性研究  

Association between RUNX2 gene polymorphism and idiopathic scoliosis among Han adolescents in northern China

作　　者：吴增玉 张跃川 彭越 吴南[1] 邱贵兴[1] 庄乾宇[1] 仉建国[1] WU Zengyu;ZHANG Yuechuan;PENG Yue;WU Nan;QIU Guixing;ZHUANG Qianyu;ZHANG Jianguo(Department of Orthopaedic Surgery,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China)

机构地区：[1]中国医学科学院北京协和医学院北京协和医院骨科,北京100730

出　　处：《中华骨与关节外科杂志》2023年第5期427-432,共6页Chinese Journal of Bone and Joint Surgery

基　　金：北京市自然科学基金资助项目(7232111)。

摘　　要：目的:通过回顾性病例对照研究,评价RUNX2基因rs1321075、rs1406846位点多态性与中国北方汉族青少年特发性脊柱侧凸(AIS)的相关性。方法:依据AIS诊断标准,共纳入197例受试者,包括97例AIS患者和100名健康对照。运用测序方法检测RUNX2基因上rs1321075、rs1406846位点的多态性,并采用logistic回归模型对基因型、等位基因分布进行统计学分析。结果:AIS组携带的RUNX2 rs1321075 TT基因型与健康对照组相比,差异有统计学意义(P=0.003),而两组的等位基因频率比较差异无统计学意义(P=0.866)。该位点在AIS组中的基因型分布与PUMC(协和)分型相关(P=0.011),它的基因型G/G+T/G与PUMCⅢ型患者的发病相关。AIS组rs1406846等位基因、基因型与健康对照组相比差异均无统计学意义(P=0.196,P=0.252)。结论:在中国北方汉族人群中RUNX2基因rs1321075与AIS具有相关性,其中TT基因型可能是AIS的危险因素。Objective:To evaluate the association between rs1321075 and rs1406846 polymorphisms of RUNX2 gene and adolescent idiopathic scoliosis(AIS)among Han adolescents in northern China through a retrospective case-control study.Methods:A total of 197 subjects were enrolled according to the AIS diagnostic criteria,including 97 AIS patients and 100 healthy controls.The polymorphisms of rs1321075 and rs1406846 in RUNX2 gene were detected by sequencing method,and the distribution of genotype and allele were analyzed by logistic regression model.Results:The RUNX2 rs1321075 TT genotype was significantly different in the Han AIS patients in northern China compared with the healthy controls(P=0.003),but there was no significant difference in allele frequency between the AIS patients and healthy controls(P=0.866).The genotype distribution of this locus in AIS patients was correlated with PUMC typing(P=0.011),and its genotype G/G+T/G was correlated with PUMC typeⅢ.However,there was no significant difference in allele or genotype of rs1406846 between the AIS patients and healthy controls(P=0.196,P=0.252).Conclusions:RUNX2 gene rs1321075 is associated with AIS in the Han population of northern China,and TT genotype may be a risk factor for AIS.

关 键 词：多态性 单核苷酸 青少年特发性脊柱侧凸 关联分析 

分 类 号：R687.3[医药卫生—骨科学]