西安地区注意缺陷多动障碍与HLA-DRB1基因的相关性研究

Study on the association between HLA-DRB1 genes and ADHD in Xi'an.

【目的】探讨注意缺陷多动障碍（attention deficit hyperactivity disorder,ADHD）患儿HLA-DRB1（humanleukocyte antigen-DRB1）基因多态性的分布特征,了解ADHD病例组与正常对照组中HLA-DRB1位点等位基因频率分布上的差异。【方法】采用病例对照的研究方法,应用PCR-SSOP技术对54例ADHD病例组及66例正常对照组儿童进行HLA-DRB1等位基因多态性分析。【结果】在ADHD病例组及对照组中,HLA-DRB1位点共检出13个等位基因,基因频率分别为0.93%-13.89%及0.76%-18.18%;DR1、DR10以及DR12在两组中的分布上差异有显著性,对照组中DR12（15.91%）明显高于ADHD病例组（4.63%）,RR为0.218 7;DR1在ADHD病例组为7.41%,在对照组为0.76%,RR为11.304 3;DR10在ADHD病例组为9.26%,在对照组未检出,RR为31.382 0。【结论】①西安地区ADHD患儿及正常对照儿童HLA-DRB1位点上等位基因的遗传信息体现了国人的主要特征。具有一定的代表性。②DR12可能为ADHD的保护基因,DR1和DR10则可能是ADHD的易感基因或与易感基因相连锁。

[Objective] To explore the distribution characteristics of polymorphism of HLA-DRB1 in children suffered from attention deficit hyperactivity disorder（ADHD）, find out the distribution differences of allele frequencies of HLA-DRB1 between ADHD group and control group. [Methods] The case control analysis and PCR SSOP techniques were adopted to study the polymorphism of alleles of HLA-DRB1. Fifty four children aged 6- 16 met DSM-Ⅳ criteria of attention deficit hyperactivity disorder were recruited as ADHD group, and sixty six healthy children aged 6-14 were recruited as control group. [Results] 13 alleles of DRB1 were detected in this study, with the corresponding frequencies being 0.93%-13.89% （ADHD group） and 0.76% - 18. 18% （control group）; with significant difference, the gene fre quency of DR12 in control group （ 15.91 % ） was obviously higher than that of the ADHD（4.63 % ）, RR = 0.218 7, While the gene frequency of DR1 in ADHD group was 7. 41%, 0. 76% in control group,RR= 11. 304 3,the gene frequency of DR10 was 9.26% in ADHD group and that in control group was not detected,RR=31. 382 0. [Conclusions] Genetic information on HLA-DRB1 locus in Xi＇ an ADHD children and local controls reflect chief characteristics of Chinese, which having a certain representativeness. DR12 is possibly a protective gene against ADHD. DR1, DR10 are likely to be the susceptible genes of the disease or there is a linkage relation between ADHD and HLA DR1 or HLA-DR10 allele.