5-羟色胺受体1A和1B与青少年特发性脊柱侧凸的关联研究

[Association study of HTR1A and HTR1B with adolescent idiopathic scoliosis].

作者信息

Wang Hai, Wu Zhi-hong, Zhuang Qian-yu, Qiu Gui-xing

机构信息

Department of Orthopaedics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China.

出版信息

Zhonghua Wai Ke Za Zhi. 2010 Feb 15;48(4):296-9.

PMID:20388441

Abstract

OBJECTIVE

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 AIS 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 chi(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 type III, and there was no other positive results in genotype-phenotype association analysis.

CONCLUSION

These results suggest that HTR1A may be a predisposition gene of AIS PUMC type III, and PUMC Classification may has its genetic basis.

摘要

目的

评估5-羟色胺受体1A（HTR1A）和5-羟色胺受体1B（HTR1B）基因多态性是否与青少年特发性脊柱侧凸（AIS）的易感性、性别、协和分型及严重程度相关。

方法

对2006年1月至2007年3月收治的103例AIS患者及108例年龄和性别相匹配的对照者进行rs6294（HTR1A）和rs6296（HTR1B）基因分型。采用等位基因及基因型关联分析和基因型-表型（性别、协和分型及Cobb角）关联分析方法对数据进行分析。

结果

在对照组中，所有2个单核苷酸多态性（SNP）的等位基因分布均符合Hardy-Weinberg平衡（拟合优度χ²检验，P>0.05）。rs6294的A等位基因与AIS的发生相关（P=0.041），但rs6296的等位基因频率及两组间两个SNP的基因型频率差异均无统计学意义（P>0.05）。rs6294的A/A+A/G基因型与AIS协和III型相关，基因型-表型关联分析未发现其他阳性结果。