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希腊队列中基因等位基因对儿童多发性硬化症的影响。

allele impact on pediatric multiple sclerosis in a Hellenic cohort.

作者信息

Gontika Maria, Skarlis Charalampos, Artemiadis Artemios, Pons Roser, Mastroyianni Sotiria, Vartzelis George, Theodorou Virginia, Kilindireas Konstantinos, Stefanis Leonidas, Dalakas Marinos, Chrousos George, Anagnostouli Maria

机构信息

Immunogenetics Laboratory, First Department of Neurology, Medical School,National and Kapodistrian University of Athens, NKUA, Aeginition Hospital, Athens, Greece.

Immunogenetics Laboratory, First Department of Neurology, Medical School, National and Kapodistrian University of Athens, NKUA, Aeginition Hospital, Athens, Greece.

出版信息

Mult Scler J Exp Transl Clin. 2020 Feb 24;6(1):2055217320908046. doi: 10.1177/2055217320908046. eCollection 2020 Jan-Mar.

Abstract

BACKGROUND

Pediatric-onset multiple sclerosis (POMS) is considered a complex disease entity with many genetic and environmental factors implicated in its pathogenesis. Linkage studies in Caucasian adult populations consistently demonstrate the major histocompatibility complex and its (human leukocyte antigen) polymorphisms as the genetic locus most strongly linked to MS.

OBJECTIVE

To investigate the frequencies and possible clinical and imaging correlations of alleles in a Hellenic POMS sample.

METHODS

Fifty POMS patients fulfilling the IPMSSG (International Pediatric Multiple Sclerosis Study Group) criteria were enrolled using 144 adult-onset MS (AOMS) patients and 246 healthy controls for comparisons. genotyping was performed with standard low-resolution sequence-specific oligonucleotide (SSO) techniques. Clinical and imaging correlations with specific alleles were also examined.

RESULTS

The genotype was significantly higher in POMS patients compared to both the AOMS population (26% vs. 12.5%,  = 0.042) and the general population (26% vs. 12.6%,  = 0.004). -positive POMS patients had significantly more relapses (6.9 ± 4.9 vs. 4.2 ± 4.4,  = 0.005) and more thoracic spinal cord lesions than negative patients (61.5% vs. 27%,  = 0.043).

CONCLUSION

In our Hellenic population, allele confers increased risk for POMS and it is also correlated with possibly increased disease activity, expanding the existing knowledge on associations and POMS.

摘要

背景

儿童期多发性硬化症(POMS)被认为是一种复杂的疾病实体,其发病机制涉及许多遗传和环境因素。对白种人成年人群的连锁研究一致表明,主要组织相容性复合体及其(人类白细胞抗原)多态性是与多发性硬化症联系最紧密的基因位点。

目的

研究希腊POMS样本中 等位基因的频率以及可能的临床和影像学相关性。

方法

纳入50例符合国际儿童多发性硬化症研究组(IPMSSG)标准的POMS患者,并与144例成年期多发性硬化症(AOMS)患者和246例健康对照进行比较。采用标准的低分辨率序列特异性寡核苷酸(SSO)技术进行 基因分型。还检查了与特定 等位基因的临床和影像学相关性。

结果

与AOMS人群(26%对12.5%, = 0.042)和普通人群(26%对12.6%, = 0.004)相比,POMS患者中 基因型显著更高。携带 的POMS患者复发次数明显更多(6.9 ± 4.9对4.2 ± 4.4, = 0.005),且胸段脊髓病变比未携带 的患者更多(61.5%对27%, = 0.043)。

结论

在我们的希腊人群中, 等位基因增加了POMS的发病风险,并且可能与疾病活动增加相关,拓展了关于 关联和POMS的现有知识。

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allele impact on pediatric multiple sclerosis in a Hellenic cohort.希腊队列中基因等位基因对儿童多发性硬化症的影响。
Mult Scler J Exp Transl Clin. 2020 Feb 24;6(1):2055217320908046. doi: 10.1177/2055217320908046. eCollection 2020 Jan-Mar.

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