A multi-step genomic approach prioritized TBKBP1 gene as relevant for multiple sclerosis susceptibility.

ABSTRACT:

Background

Over 200 genetic loci have been associated with multiple sclerosis (MS) explaining ~ 50% of its heritability, suggesting that additional mechanisms may account for the "missing heritability" phenomenon.

Objective

To analyze a large cohort of Italian individuals to identify markers associated with MS with potential functional impact in the disease.

Methods

We studied 2571 MS and 3234 healthy controls (HC) of continental Italian origin. Discovery phase included a genome wide association study (1727 MS, 2258 HC), with SNPs selected according to their association in the Italian cohort only or in a meta-analysis of signals with a cohort of European ancestry (4088 MS, 7144 HC). Top associated loci were then tested in two Italian cohorts through array-based genoty

SUBMITTER: Sorosina M 

PROVIDER: S-EPMC9294010 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature