Objective: To investigate the effect of polymorphisms in APOE, TREM2 and LINGO1 genes on the cognitive profile of essential tremor(ET) in Tunisian population.

Background: ET is the most common movement disorder. Despite its prevalence, to our knowledge there is no study on genetic aspects of this pathology in Tunisia.

Method: Samples from 110Tunisian ET patients and 158healthy controls were used and the genotyping of  9 polymorphisms in LINGO1, APOE and TREM2 genes was established by Sanger sequencing, PCR-PFLP and PCR-ARMS.

Results: There was no association between APOE and TREM2 exon2 genetic variations and the occurrence of ET. No correlation between APOEe4 allele and cognitive impairment was found in our ET patients. LINGO1 rs13313467 polymorphism increased the risk of ET(p=0.040-OR=1.56[1.01-2.41]). The stratification of patients according to clinical parameters suggested that the three LINGO1 polymorphisms favor the development of cognitive disorders. The binding analysis of these three variants allowed us to determine a single block with significant linkage disequilibrium. The haplotype study has shown that the GCC haplotype was more frequent in patients who developed cognitive disorders, considered as a risk factor of their occurrence(p=0.002) and the ACC haplotype seemed to play a protective role(p=0.002).

Conclusion: Our study showed associations between LINGO1 and the occurrence of ET and cognitive disorders, contrary to APOE and TREM2 genes. It is assumed that the neuronal degeneration would be influenced by the synergistic action of the different mutations on these genes.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/apoe-trem2-and-lingo1-genes-a-possible-implication-in-cognition-in-essential-tremor-in-a-tunisian-population/