MGAT5 and disease severity in progressive multiple sclerosis

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• 作者：Federica Esposito^a ; Jerome Wojcik^b ; Mariaemma Rodegher^a ; Marta Radaelli^a ; Lucia Moiola^a ; Angelo Ghezzi^c ; Ruggero Capra^d ; Paola Brambilla^a ; Melissa Sorosina^a ; Giacomo Giacalone^a ; Vittorio Martinelli^a ; Giancarlo Comi^a ; Hadi Abderrahim^b ; Filippo Martinelli Boneschi^a ; ^{martinelli.filippo@hsr.it}
• 关键词：Primary Progressive Multiple Sclerosis ; Single nucleotide polymorphism ; Disease progression ; MGAT5
• 刊名：Journal of Neuroimmunology
• 出版年：2011
• 出版时间：January 2011
• 年：2011
• 卷：230
• 期：1-2
• 页码：143-147
• 全文大小：376 K

文摘

MGAT5 was demonstrated to be associated to multiple sclerosis (MS) severity. We evaluated its role in progressive MS. We studied 11 SNPs mapping to MGAT5 in an Italian cohort of primary progressive or progressive-relapsing patients. The rs1257169^G allele is associated with lower disease severity (p-value = 0.02). Adding the age of onset as covariate, another SNP, rs539588, is nominally significant. None of the SNPs survived after multiple testing correction. These results, even if suggestive of MGAT5 involvement also in progressive MS severity, require a bigger sample size to confirm and better explore the role of this locus in this rare disease course.