摘要目的 研究HTR1A和HTR1B基因多态性与青少年特发性脊柱侧凸(MS)的发生及其表型(性别、Cobb角和PUMC分型)间的关系.方法 对2006年1月至2007年3月诊治的103例MS患者和同期就诊或健康体检的性别和年龄匹配的108例对照者,以单核苷酸多态性(SNPs)位点(rs6294和rs6296)为遗传标记进行分型筛查,对结果分别进行基于等位基因和基因型的单位点关联分析、基因型与表型关联分析.结果 rs6294位点(THR1A基因)的等位基因A在病例组中的频率要明显高于对照组,差异有统计学意义(P=0.041).该位点在病例组中的基因型分布与PUMC分型相关(P=0.008),它的基因型A/A+A/G与PUMCⅢ型患者的发病相关.结论 HTR1A基因可能是PUMCⅢ型脊柱侧弯的一个易感基因,PUMC分型可能有一定的遗传学基础.

abstractsObjective To assess whether HTR1A and HTR1B polymorphisms are associated with the predisposition, gender, PUMC Classification and/or severity of adolescent idiopathic scoliosis (AIS).Methods Rs6294 (HTR1A) and rs6296 (HTR1B) were genotyped in 103 ALS patients treated from January 2006 to March 2007, and 108 controls with matched gender and age. The data were analyzed by the allelic and genotypic association analysis, and the genotype-phenotype (gender, PUMC Classification, and Cobb angle) association analysis. Results The distributions of the alleles of all the 2 SNPs met Hardy-Weinberg equilibrium in the controls (goodness-of-fit χ~2 test, P>0.05). The allele A of rs6294 was related with the occurrence of AIS (P=0.041), but differences of the allele frequencies of rs6296 and the genotype frequencies of both SNPs between 2 groups had no statistical significance (P>0.05). The genotype A/A+A/G of rs6294 was associated with AIS PUMC typeⅢ, and there was no other positive results in genotype-phenotype association analysis. Conclusion These results suggest that THR1A may be a predisposition gene of AIS PUMC typeⅢ, and PUMC Classification may has its genetic basis.