Al-Asmary Saeed Mohammad, Kadasah Saeed, Arfin Misbahul, Tariq Mohammad, Al-Asmari Abdulrahman
Department of Neuropsychiatry, Riyadh Military Hospital, Riyadh, Saudi Arabia.
Department of Psychiatry, Riyadh Military Hospital, Riyadh, Saudi Arabia.
Arch Med Sci. 2015 Aug 12;11(4):869-76. doi: 10.5114/aoms.2015.53308. Epub 2015 Aug 11.
Apolipoprotein E (APOE) genotypes influence the phenotype of several neurodegenerative disorders including Alzheimer's and Parkinson disease and may affect schizophrenia pathogenesis. This study was undertaken to determine the association between APOE gene polymorphisms and schizophrenia in the Saudi population.
APOE allele and genotype frequencies were studied in 380 Saudi subjects including schizophrenia patients and matched controls using polymerase chain reaction (PCR) and reverse-hybridization techniques.
The frequencies of the APOE allele ε2 and genotypes ε2/ε3 and ε2/ε4 were significantly higher in the schizophrenia patients as compared to controls, suggesting that the ε2 allele and its heterozygous genotypes may increase the susceptibility to schizophrenia. In contrast, the frequencies of the ε3 allele and ε3/ε3 genotype were lower in patients as compared to controls, suggesting a protective effect of APOE ε3 for schizophrenia. This study indicated that APOE ε4 was differentially associated with schizophrenia depending on the symptoms as the frequency of the ε4 allele was significantly higher in schizophrenia patients with positive symptoms. By contrast, no significant association between APOE ε4 and schizophrenia patients with negative symptoms was observed. Genotypes ε2/ε2 and ε4/ε4 were absent in patients and controls. Moreover, the age of onset was significantly lower in patients with the APOE ε2/ε3 genotype. There was no significant difference in the frequencies of APOE alleles and genotypes between male and female schizophrenia patients.
The results of this study clearly show that APOE alleles and genotypes are associated with risk of developing schizophrenia and early age of onset in Saudis.
载脂蛋白E（APOE）基因分型会影响包括阿尔茨海默病和帕金森病在内的多种神经退行性疾病的表型，并且可能影响精神分裂症的发病机制。本研究旨在确定沙特人群中APOE基因多态性与精神分裂症之间的关联。
采用聚合酶链反应（PCR）和反向杂交技术，对380名沙特受试者（包括精神分裂症患者和匹配的对照组）的APOE等位基因和基因型频率进行了研究。
与对照组相比，精神分裂症患者中APOE等位基因ε2以及基因型ε2/ε3和ε2/ε4的频率显著更高，这表明ε2等位基因及其杂合基因型可能会增加患精神分裂症的易感性。相比之下，患者中ε3等位基因和ε3/ε3基因型的频率低于对照组，这表明APOE ε3对精神分裂症具有保护作用。本研究表明，APOE ε4与精神分裂症的关联因症状而异，因为在有阳性症状的精神分裂症患者中，ε4等位基因的频率显著更高。相比之下，未观察到APOE ε4与有阴性症状的精神分裂症患者之间存在显著关联。患者和对照组中均不存在ε2/ε2和ε4/ε4基因型。此外，具有APOE ε2/ε3基因型的患者发病年龄显著更低。男性和女性精神分裂症患者之间的APOE等位基因和基因型频率没有显著差异。
本研究结果清楚地表明，APOE等位基因和基因型与沙特人患精神分裂症的风险以及发病年龄早有关。
