Whole-exome sequencing study of opioid dependence offers novel insights into the contributions of exome variants.

ABSTRACT: Opioid dependence (OD) is epidemic in the United States and it is associated with a variety of adverse health effects. Its estimated heritability is ~50% in twin studies, and recent genome-wide association studies have identified more than a dozen common risk variants. However, there are no published studies of rare OD risk variants. In this study, we analyzed whole-exome sequencing data from the Yale-Penn cohort, comprising 2100 participants of European ancestry (EUR; 1321 OD cases) and 1790 of African ancestry (AFR; 864 cases). A novel low-frequency variant (rs746301110) in the RUVBL2 gene was identified in EUR (p = 6.59 × 10^-10). Suggestive associations (p < 1 × 10^-5; not passing the Bonferroni correction) were observed in TMCO3 in EUR, in NEIL2 and CFAP44 in AFR,

SUBMITTER: Wang L 

PROVIDER: S-EPMC12500996 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature