HLA-DQA2基因多态性与精神分裂症临床症状的关系

Genetic association between DQA2 locus in human MHC region and psychotic symptoms of schizophrenia

目的 :探讨中国北方汉族人精神分裂症临床症状与 HL A - DQA 2基因多态性的关系。方法 :采用 PCR-RFL P方法检测 190例精神分裂症患者及其健康父母 DQA2基因型并采用 TDT、 HRR等遗传学统计方法进行分析。结果 :DQA2基因的 SNP (rs2 2 3980 0 :G/ A碱基互换 )等位基因频数分布在有无关系妄想症状患者中差异有显著性 (χ2 =7.0 6 6 ,P=0 .0 0 8) ,在有无夸大妄想症状患者中差异有显著性 (P=0 .0 4 5 ) ,等位基因 A的频数显著高于等位基因 G的频数。 GG、 GA和 AA 3种基因型频数分布与真性听幻觉症状 (χ2 =8.2 97,P=0 .0 16 )、关系妄想症状 (χ2 =10 .6 86 ,P=0 .0 0 5 )、夸大妄想症状 (χ2 =7.10 3,P=0 .0 2 9)和情感淡漠症状 (χ2 =11.90 6 ,P=0 .0 18)有关联 ,GA和 AA基因型频数分布高于 GG基因型。结论 :DQA2基因 rs2 2 3980 0位点基因多态性与精神分裂症的关系妄想、夸大妄想、真性听幻觉和情感淡漠症状有关联。

Objective To investigate the genetic association of DQA2 gene in the DQ subregion of MHCⅡregion with psychotic symptoms of schizophrenia. Methods The polymerase chain reaction (PCR) and restriction fragment length polymorphism (RELP) were applied in this research among the 190 Han family trios in the north of China. The chi-square (χ2) test, transmission disequilibrium test (TDT), and the haplotype-based relative risk (HRR) analysis were used to process the genotype data. Results The SNP rs2239800, a G to A base change, presented in the DQA2 locus showed significant associations with the delusion of observation (χ2=7.066, P=0.008) and also with the delusion of grandeur (P=0.045). And genotype of rs2239800 showed associations with genuine auditory hallucination (χ2=6.771, P=0.034), with delusion of observation (χ2=10.686, P=0.005), with delusion of grandeur(χ2=7.103, P=0.029), and with apathy (χ2=11.906, P=0.018). Conclusion The DQA2 locus is very likely to be associated with such psychotic symptoms as genuine auditory hallucination, delusion of observation, delusion of grandeur and apathy.