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

Overview of attention for article published in Human Genomics, December 2017
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Title
Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients
Published in
Human Genomics, December 2017
DOI 10.1186/s40246-017-0126-2
Pubmed ID
Authors

Konstantinos Mitropoulos, Eleni Merkouri Papadima, Georgia Xiromerisiou, Angeliki Balasopoulou, Kyriaki Charalampidou, Vasiliki Galani, Krystallia-Vassiliki Zafeiri, Efthymios Dardiotis, Styliani Ralli, Georgia Deretzi, Anne John, Kyriaki Kydonopoulou, Elpida Papadopoulou, Alba di Pardo, Fulya Akcimen, Annalisa Loizedda, Valerija Dobričić, Ivana Novaković, Vladimir S. Kostić, Clint Mizzi, Brock A. Peters, Nazli Basak, Sandro Orrù, Evangelos Kiskinis, David N. Cooper, Spyridon Gerou, Radoje Drmanac, Marina Bartsakoulia, Evangelia-Eirini Tsermpini, Georgios M. Hadjigeorgiou, Bassam R. Ali, Theodora Katsila, George P. Patrinos

Abstract

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). 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 association between FTO and TBC1D1 variants and sALS in patients of Sardinian and Turkish descent may suggest a founder effect in the Greek population. FTO was found to be highly expressed in motor neurons, while in silico analyses predicted an impact on FTO and TBC1D1 mRNA splicing for the genomic variants in question. To our knowledge, this is the first study to present a possible association between FTO gene variants and the genetic etiology of sALS. In addition, the next-generation sequencing-based genomics approach coupled with the two-step validation strategy described herein has the potential to be applied to other types of human complex genetic disorders in order to identify variants of clinical significance.

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Mendeley readers

The data shown below were compiled from readership statistics for 34 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 34 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 7 21%
Student > Ph. D. Student 5 15%
Student > Master 5 15%
Student > Bachelor 4 12%
Librarian 2 6%
Other 4 12%
Unknown 7 21%
Readers by discipline Count As %
Neuroscience 7 21%
Biochemistry, Genetics and Molecular Biology 6 18%
Nursing and Health Professions 4 12%
Medicine and Dentistry 4 12%
Pharmacology, Toxicology and Pharmaceutical Science 2 6%
Other 4 12%
Unknown 7 21%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 19 July 2018.
All research outputs
#17,885,685
of 20,168,546 outputs
Outputs from Human Genomics
#373
of 404 outputs
Outputs of similar age
#255,056
of 294,300 outputs
Outputs of similar age from Human Genomics
#1
of 1 outputs
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