中国汉族人群AIS基因多态性研究进展

摘要

The studies have confirmed that adolescent idiopathic scoliosis (AIS) is closely related to genetic fac-tors. The correlation between gene polymorphisms and AIS are the focus of medical molecular genetics research in re-cent years. Selecting the AIS-related candidate gene single nucleotide polymorphism (SNP) sites in the previous study and the closely related SNP sites in the genome-wide association study (GWAS), genotyping, and assessing the correla-tion between the susceptibility and progression of AIS and gene polymorphisms are the general idea of the study. Prefer-entially choosing sites that are validated in similar genetic backgrounds are more likely to be validated in the AIS of Chi-nese Han population, and the results can provide the basis for in-depth functional research and genetic counseling.%研究已经证实青少年特发性脊柱侧凸(AIS)与遗传因素密切相关,而基因多态性与AIS相关性的研究是近年来医学分子遗传学研究的重点,选择既往研究中与AIS相关的候选基因单核苷酸多态性位点及全基因组关联分析(genome-wide association study,GWAS)公布的密切相关的单核苷酸多态性位点进行基因分型,评估AIS的发生发展与候选基因的联系是基因多态性研究的常规思路.优先选择在遗传背景相似的对象中得以验证的位点更易在中国汉族AIS人群中得以验证,进而为深入的功能学研究及遗传咨询奠定基础.