<i>OSBPL11</i> is an African-specific locus associated with 25-hydroxyvitamin D concentrations and cardiometabolic health.

ABSTRACT: Vitamin D deficiency is prevalent in Africa, but its genetic determinants are understudied. We report a genome-wide analysis of 25-hydroxyvitamin D (25(OH)D) concentrations in 3670 children from five countries across Africa with replication in four diaspora African ancestry populations (n=21,610). We identify a previously unreported locus at genome-wide significance in West African populations: OSBPL11 (Oxysterol Binding Protein Like 11, lead variant, rs2979356, p=8.01 × 10^-9). In vitro and molecular docking assays showed that OSBPL11 is a vitamin D binding protein likely involved in the intracellular binding of vitamin D metabolites. OSBPL11 knockdown mice have increased fat, reduced triglycerides and improved glucose tolerance, and rs2979356 was associated

SUBMITTER: Mogire RM 

PROVIDER: S-EPMC12148284 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature