Association of apolipoprotein E and myeloperoxidase genotypes to clinical course of familial and sporadic multiple sclerosis
Association of apolipoprotein E and myeloperoxidase genotypes to clinical course of familial and sporadic multiple sclerosis
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载脂蛋白E和髓过氧化物酶基因型与家族性和散发性多发性硬化症临床病程的关联
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发表时间：
2004
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通讯作者：
H. Kwiecinski
中科院分区：
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作者：
B. Zakrzewska;M. Styczyńska;A. Podlecka;R. Samocka;B. Pepłońska;M. Barcikowska;H. Kwiecinski
近年来，载脂蛋白E(ApoE)和髓过氧化物酶(MPO)基因分型在多发性硬化(MS)临床特征中的重要性受到重视。在一大群波兰患者中，我们测试了载脂蛋白E和MPO基因的多态性可能影响疾病进程的假设。对117例MS患者(女性74例，男性43例；散发性99例，家族性18例)进行基因分型，平均EDSS为3.6岁，平均年龄44.1岁，平均病程12.8年，平均起病31.2年。分析ApoE和MPO基因多态性与MS活性的关系，以及MRI表现为复髓(弥漫性脱髓鞘)和脑萎缩的情况。ApoEo4等位基因与病程无关，ApoEO2与MRI脱髓鞘程度无关。所有家族性MS均存在MPO G/G基因型，散发性MS占57%(56/99)。这种基因也与MRI上更明显的脑萎缩有关。MPO G/G亚群的特征是继发性进展性MS患者的比例显著增加(PB-0.05)，EDSS值也较高。根据我们的结果，在波兰MS患者中经常发现MPO G等位基因(96%)，MPO G/G形式更严重的神经组织损伤可以用加速氧化应激的机制来解释。MPO G/G基因可能是影响MS患者残疾进展率的遗传因素之一。
The importance of apolipoprotein E (ApoE) and myeloperoxidase (MPO) genotypes in the clinical characteristics of multiple sclerosis (MS) has been recently emphasized. In a large group of Polish patients we have tested the hypothesis that polymorphism in ApoE and MPO genes may influence the course of the disease. G enotypes were determined in 117 MS patients (74 females and 43 males; 99 sporadic and 18 familial cases) with mean EDSS of 3.6, mean age of 44.1 years, mean duration of the disease 12.8 years and mean onset of MS at 31.2 years, and in 100 healthy controls. The relationship between ApoE and MPO genes’ polymorphism and the MS activity as well as the defect of remyelination (diffuse demyelination) and brain atrophy on MRI were analysed. The ApoE o4 allele was not related to the disease course or the ApoE o2 to the intensity of demyelination on MRI. The genotype MPO G/G was found in all familial MS and in 57% (56/99) of sporadic cases. This genotype was also related to more pronounced brain atrophy on MRI. The MPO G/G subpopulation was characterized by a significantly higher proportion of patients with secondary progressive MS (PB- 0.05) and by a higher value of EDSS. A ccording to our results the MPO G allele is frequently found (in 96% of cases) among Polish patients with MS. More severe nervous tissue damage in the MPO G/G form can be explained by the mechanism of accelerated oxidative stress. It seems that MPO G/G genotype may be one of the genetic factors influencing the progression rate of disability in MS patients.