Lupus Susceptibility Region Containing CDKN1B rs34330 Mechanistically Influences Expression and Function of Multiple Target Genes, Also Linked to Proliferation and Apoptosis.

ABSTRACT:

Objective

In a recent genome-wide association study, a significant genetic association between rs34330 of CDKN1B and risk of systemic lupus erythematosus (SLE) in Han Chinese was identified. This study was undertaken to validate the reported association and elucidate the biochemical mechanisms underlying the effect of the variant.

Methods

We performed an allelic association analysis in patients with SLE, followed by a meta-analysis assessing genome-wide association data across 11 independent cohorts (n = 28,872). In silico bioinformatics analysis and experimental validation in SLE-relevant cell lines were applied to determine the functional consequences of rs34330.

Results

We replicated a genetic association between SLE and rs34330 (meta-analysis P = 5.29 × 10^-22

SUBMITTER: Singh B 

PROVIDER: S-EPMC8589926 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature