Genetic Variations in EIF2AK3 are Associated with Neurocognitive Impairment in People Living with HIV.

ABSTRACT: Based on emerging evidence on the role for specific single-nucleotide variants (SNVs) in EIF2AK3 encoding the integrated stress response kinase PERK, in neurodegeneration, we assessed the association of EIF2AK3 SNVs with neurocognitive performance in people with HIV (PWH) using a candidate gene approach. This retrospective study included the CHARTER cohort participants, excluding those with severe neuropsychiatric comorbidities. Genome-wide data previously obtained for 1047 participants and targeted sequencing of 992 participants with available genomic DNA were utilized to interrogate the association of three noncoding and three coding EIF2AK3 SNVs with the continuous global deficit score (GDS) and global neurocognitive impairment (NCI; GDS ≥ 0.5) using univariable and multivariable method

SUBMITTER: Akay-Espinoza C 

PROVIDER: S-EPMC11126443 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature