A functional schizophrenia-associated genetic variant near the TSNARE1 and ADGRB1 genes.

ABSTRACT: Recent collaborative genome-wide association studies (GWAS) have identified >200 independent loci contributing to risk for schizophrenia (SCZ). The genes closest to these loci have diverse functions, supporting the potential involvement of multiple relevant biological processes, yet there is no direct evidence that individual variants are functional or directly linked to specific genes. Nevertheless, overlap with certain epigenetic marks suggest that most GWAS-implicated variants are regulatory. Based on the strength of association with SCZ and the presence of regulatory epigenetic marks, we chose one such variant near TSNARE1 and ADGRB1, rs4129585, to test for functional potential and assay differences that may drive the pathogenicity of the risk allele. We observed that the variant-conta

SUBMITTER: Wahbeh MH 

PROVIDER: S-EPMC11130735 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature