Association of PBRM1 rs2251219 with major depressive disorder and biochemical variables in a Taiwanese cohort.

Abstract

Background: Genetic studies have identified more than 100 loci linked to major depressive disorder (MDD), underscoring its polygenic characteristics. Although the protein polybromo-1 (PBRM1) rs2251219 polymorphism was reported to be associated with MDD, this has not been corroborated by additional studies. In the present study, the associations between PBRM1 rs2251219, MDD, and key biochemical variables were evaluated in a large Taiwanese cohort.

Methods: Data were collected from 117,679 individuals aged 30 to 90 years who were enrolled in the Taiwan Biobank. MDD diagnoses were based on self-reported data validated through national insurance claims records. Genotyping was conducted with an Axiom Genome-Wide Array, and associations with biochemical variables were analyzed through a general linear model adjusted for age and sex.

Results: A significant association was observed between PBRM1 rs2251219 and MDD risk (p = 0.021 for genotype and p = 0.025 for allele). Individuals with the T allele had a higher MDD risk than C/C genotype carriers did. Biochemical differences were also observed, with T/T carriers with lower body mass index, platelet counts, albumin concentrations, and fasting glucose levels and higher red blood cell counts, hematocrit levels, and uric acid levels.

Conclusion: The PBRM1 rs2251219 polymorphism was associated with both MDD and biochemical measurement variation. These findings support the effects of the PBRM1 rs2251219 polymorphism on blood protein levels and psychiatric traits.