Yilmaz Vuslat, Demirbilek Veysi, Gürses Candan, Yentür Sibel P, Uysal Serap, Yapici Zuhal, Yilmaz Gülden, Muncey Aaron, Cokar Ozlem, Onal Emel, Gökyiğit Aysen, Saruhan-Direskeneli Güher
Department of Physiology, Istanbul Medical Faculty, Istanbul, Turkey.
J Neurovirol. 2007 Oct;13(5):410-5. doi: 10.1080/13550280701455383.
Mutated measles virus variants have been claimed as the causing agent for subacute sclerosing panencephalitis (SSPE) developing several years after the recovery from measles infection. However, immune dysfunction may be considered related to a genetic susceptibility to this rare disease. Interleukin (IL)-2 -330 (rs2069 762) and +160 (rs2069 763), IL-12 p40 3' UTR (rs3213113), and interferon (IFN)-gamma +874 (rs2430561) polymorphisms are screened by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and PCR-sequence-specific priming (SSP) methods in 87 SSPE patients and 106 healthy controls (HCs) as candidate genes of susceptibility. The distribution of the IL12B genotypes (rs3213113) showed a trend for a significant difference (P = .053). The frequency of IL12B C allele (P = .04, OR: 1.6) and CC genotype (P = .03, OR: 3.2) were both higher in SSPE patients than in HC. The IL2 -330 genotypes revealed lower frequencies of GG genotype (P = .03, OR: 0.4) as well as G allele (P = .02, OR: 0.6) in SSPE. IL2 -330+160 TG haplotype was more frequent in patients (P = .005, OR: 1.8), whereas GG haplotype was less frequent, compared to controls (P = .02, OR: 0.6). IFNG +874 polymorphism revealed no difference. These findings implicate possible effects of genetic polymorphisms in the susceptibility to SSPE, which need to be confirmed in other populations.
变异的麻疹病毒变种被认为是亚急性硬化性全脑炎(SSPE)的致病因子,该病在麻疹感染康复数年之后出现。然而,免疫功能障碍可能被认为与这种罕见疾病的遗传易感性有关。通过聚合酶链反应-限制性片段长度多态性(PCR-RFLP)和PCR-序列特异性引物(SSP)方法,对87例SSPE患者和106名健康对照者(HCs)进行白细胞介素(IL)-2 -330(rs2069762)和+160(rs2069763)、IL-12 p40 3'非翻译区(rs3213113)以及干扰素(IFN)-γ +874(rs2430561)多态性的筛查,作为易感性的候选基因。IL12B基因型(rs3213113)的分布显示出显著差异的趋势(P = 0.053)。SSPE患者中IL12B C等位基因的频率(P = 0.04,比值比:1.6)和CC基因型的频率(P = 0.03,比值比:3.2)均高于HC。IL2 -330基因型显示SSPE中GG基因型的频率较低(P = 0.03,比值比:0.4)以及G等位基因的频率较低(P = 0.02,比值比:0.6)。与对照组相比,IL2 -330+160 TG单倍型在患者中更常见(P = 0.005,比值比:1.8),而GG单倍型则较少见(P = 0.02,比值比:0.6)。IFNG +874多态性未显示出差异。这些发现表明基因多态性可能对SSPE易感性有影响,这需要在其他人群中得到证实。