Agliardi Cristina, Guerini Franca Rosa, Zanzottera Milena, Rovaris Marco, Caputo Domenico, Clerici Mario
Don C. Gnocchi Foundation, IRCCS, Piazza Morandi, 3, 20121 Milano, Italy.
Don C. Gnocchi Foundation, IRCCS, Piazza Morandi, 3, 20121 Milano, Italy.
J Neurol Sci. 2017 Jun 15;377:31-34. doi: 10.1016/j.jns.2017.03.048. Epub 2017 Mar 29.
Indoleamine 2,3 dioxygenase (IDO)1 and IDO2 are enzymes playing a pivotal role in the metabolism of tryptophan and in immune modulation. IDO2, in particular, was recently suggested to drive B cell-mediated autoimmune diseases. Two functional polymorphisms within the IDO2 gene are described that result in the production of enzymes with suppressed activity; we analyzed these polymorphisms in a cohort of Italian multiple sclerosis patients (MS). R248W (rs10109853) and Y359STOP (rs4503083) IDO2 polymorphisms were analyzed in 1355 Caucasian Italians (675 MS patients and 680 healthy controls) using Allelic discrimination Real-time approach with predesigned TaqMan probes. No significant differences in the distributions of rs10109853 and rs4503083 IDO2 polymorphisms could be observed between MS patients and the control group, even when patients were stratified according to disease phenotype (relapsing remitting - RRMS or primary progressive -PPMS) or sex. Moreover, the analyzed SNPs were not associated with age at onset or disease progression measured by EDSS (expanded disability status scale) and MSSS (multiple sclerosis severity score) scores. IDO2 rs10109853 and rs4503083 polymorphisms are not associated with MS risk, age at onset and disease progression in Italian MS patients.
吲哚胺2,3双加氧酶（IDO）1和IDO2是在色氨酸代谢和免疫调节中起关键作用的酶。特别是，最近有人提出IDO2会引发B细胞介导的自身免疫性疾病。本文描述了IDO2基因内的两种功能性多态性，它们会导致产生活性受到抑制的酶；我们在一组意大利多发性硬化症患者（MS）中分析了这些多态性。使用预先设计的TaqMan探针，通过等位基因鉴别实时方法，在1355名意大利白种人（675名MS患者和680名健康对照）中分析了IDO2基因的R248W（rs10109853）和Y359STOP（rs4503083）多态性。在MS患者和对照组之间，未观察到rs10109853和rs4503083 IDO2多态性分布的显著差异，即使根据疾病表型（复发缓解型 - RRMS或原发进展型 - PPMS）或性别对患者进行分层也是如此。此外，所分析的单核苷酸多态性与通过扩展残疾状态量表（EDSS）和多发性硬化症严重程度评分（MSSS）评分测量的发病年龄或疾病进展无关。IDO2的rs10109853和rs4503083多态性与意大利MS患者的MS风险、发病年龄和疾病进展无关。
