Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis.

doi:10.1136/jmedgenet-2012-101085

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Article

Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis.

Journal of medical genetics - 1 Jan 2013

Alcina Antonio, Fedetz Maria, Fernández Oscar, Saiz Albert, Izquierdo Guillermo, Lucas Miguel, Leyva Laura, García-León Juan-Antonio, Abad-Grau María Del Mar, Alloza Iraide, Antigüedad Alfredo, Garcia-Barcina María J, Vandenbroeck Koen, Varadé Jezabel, de la Hera Belén, Arroyo Rafael, Comabella Manuel, Montalban Xavier, Petit-Marty Natalia, Navarro Arcadi, Otaegui David, Olascoaga Javier, Blanco Yolanda, Urcelay Elena, Matesanz Fuencisla

Abstract excerpt

BACKGROUND AND AIM: Several studies have highlighted the association of the 12q13.3-12q14.1 region with coeliac disease, type 1 diabetes, rheumatoid arthritis and multiple sclerosis (MS); however, the causal variants underlying diseases are still unclear. The authors sought to identify the functional variant of this region associated with MS. METHODS: Tag-single nucleotide polymorphism (SNP) analysis of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23160276
DOI: 10.1136/jmedgenet-2012-101085
PMCID: PMC3538279

Genes

AVIL
METTL1
TSFM
TSPAN31

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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