Epistatic interaction between PKD2 and ABCG2 influences the pathogenesis of hyperuricemia and gout.

ABSTRACT:

Background

Genetic background affects serum urate concentration and gout risk, especially regarding these variants in the urate-transporter gene ABCG2. However, the role of epistasis between PKD2 and ABCG2 on the pathogenesis of gout is poorly understood. Here we assess this epistatic interaction in the progression from elevated serum urate to gout.

Results

We identified two epistatic interaction pairs (rs2728121: rs1481012 and rs2728121: rs2231137) were associated with urate levels in 4914 Chinese individuals (P_int = 0.018 and 0.004, respectively). Using subgroup analysis for gender and BMI, we found the degree of associations was varied by gender and BMI. The SNP pair rs2728121:rs1481012 influenced urate levels in females and overweight subjects (P_int

SUBMITTER: Dong Z 

PROVIDER: S-EPMC6986014 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature