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Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients.


ABSTRACT:

Background

Amyotrophic lateral sclerosis (ALS) is a devastating disease whose complex pathology has been associated with a strong genetic component in the context of both familial and sporadic disease. Herein, we adopted a next-generation sequencing approach to Greek patients suffering from sporadic ALS (together with their healthy counterparts) in order to explore further the genetic basis of sporadic ALS (sALS).

Results

Whole-genome sequencing analysis of Greek sALS patients revealed a positive association between FTO and TBC1D1 gene variants and sALS. Further, linkage disequilibrium analyses were suggestive of a specific disease-associated haplotype for FTO gene variants. Genotyping for these variants was performed in Greek, Sardinian, and Turkish sALS patients. A lack of

SUBMITTER: Mitropoulos K 

PROVIDER: S-EPMC5721583 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature