Decreased SMG7 expression associates with lupus-risk variants and elevated antinuclear antibody production.

ABSTRACT:

Objectives

Following up the systemic lupus erythematosus (SLE) genome-wide association studies (GWAS) identification of NMNAT2 at rs2022013, we fine-mapped its 150 kb flanking regions containing NMNAT2 and SMG7 in a 15 292 case-control multi-ancestry population and tested functions of identified variants.

Methods

We performed genotyping using custom array, imputation by IMPUTE 2.1.2 and allele specific functions using quantitative real-time PCR and luciferase reporter transfections. SLE peripheral blood mononuclear cells (PBMCs) were cultured with small interfering RNAs to measure antinuclear antibody (ANA) and cyto/chemokine levels in supernatants using ELISA.

Results

We confirmed association at NMNAT2 in European American (EA) and Amerindian/Hispanic ancestries, and

SUBMITTER: Deng Y 

PROVIDER: S-EPMC4949149 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature