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Sex influences eQTL effects of SLE and Sjogren's syndrome-associated genetic polymorphisms.


ABSTRACT:

Background

Systemic lupus erythematosus (SLE) and primary Sjögren's syndrome (pSS) are autoimmune disorders characterized by autoantibodies, dysregulated B cells, and notably high female-to-male incidence ratios. Genome-wide association studies have identified several susceptibility SNPs for both diseases. Many SNPs in the genome are expression quantitative trait loci (eQTLs), with context-dependent effects. Assuming that sex is a biological context, we investigated whether SLE/pSS SNPs act as eQTLs in B cells and used a disease-targeted approach to understand if they display sex-specific effects.

Methods

We used genome-wide genotype and gene expression data from primary B cells from 125 males and 162 females. The MatrixEQTL R package was used to identify eQTLs within a geno

SUBMITTER: Linden M 

PROVIDER: S-EPMC5657123 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature