Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation.

Andlauer, TF, Buck, D, Antony, G, Bayas, A, Bechmann, L, Berthele, A, Chan, A, Gasperi, C, Gold, R, Graetz, C
et al (show 74 more authors) (2016) Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation. Sci Adv, 2 (6). e1501678 - ?. ISSN 2375-2548

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We conducted a genome-wide association study (GWAS) on multiple sclerosis (MS) susceptibility in German cohorts with 4888 cases and 10,395 controls. In addition to associations within the major histocompatibility complex (MHC) region, 15 non-MHC loci reached genome-wide significance. Four of these loci are novel MS susceptibility loci. They map to the genes L3MBTL3, MAZ, ERG, and SHMT1. The lead variant at SHMT1 was replicated in an independent Sardinian cohort. Products of the genes L3MBTL3, MAZ, and ERG play important roles in immune cell regulation. SHMT1 encodes a serine hydroxymethyltransferase catalyzing the transfer of a carbon unit to the folate cycle. This reaction is required for regulation of methylation homeostasis, which is important for establishment and maintenance of epigenetic signatures. Our GWAS approach in a defined population with limited genetic substructure detected associations not found in larger, more heterogeneous cohorts, thus providing new clues regarding MS pathogenesis.

Item Type: Article
Uncontrolled Keywords: DLEU1, DNA methylation, ERG, L3MBTL3, MAZ, Multiple sclerosis, SHMT1, genome-wide association study
Depositing User: Symplectic Admin
Date Deposited: 01 Sep 2016 14:49
Last Modified: 19 Jan 2023 07:30
DOI: 10.1126/sciadv.1501678
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