AI Article Synopsis
- Systemic sclerosis (SSc) and systemic lupus erythematosus (SLE) share genetic risk factors, prompting researchers to analyze data from two genome-wide association studies (GWAS) to uncover these connections.
- The study involved a large sample size of 21,109 participants to validate 19 selected SNPs, leading to the identification of KIAA0319L as a novel genetic susceptibility locus for both diseases.
- Additionally, the findings confirmed that the previously known SLE-related loci PXK and JAZF1 are also relevant to SSc, enhancing our understanding of the genetic underpinnings of autoimmune diseases.
Article Abstract
Systemic sclerosis (SSc) and systemic lupus erythematosus (SLE) are two archetypal systemic autoimmune diseases which have been shown to share multiple genetic susceptibility loci. In order to gain insight into the genetic basis of these diseases, we performed a pan-meta-analysis of two genome-wide association studies (GWASs) together with a replication stage including additional SSc and SLE cohorts. This increased the sample size to a total of 21,109 (6835 cases and 14,274 controls). We selected for replication 19 SNPs from the GWAS data. We were able to validate KIAA0319L (P = 3.31 × 10(-11), OR = 1.49) as novel susceptibility loci for SSc and SLE. Furthermore, we also determined that the previously described SLE susceptibility loci PXK (P = 3.27 × 10(-11), OR = 1.20) and JAZF1 (P = 1.11 × 10(-8), OR = 1.13) are shared with SSc. Supporting these new discoveries, we observed that KIAA0319L was overexpressed in peripheral blood cells of SSc and SLE patients compared with healthy controls. With these, we add three (KIAA0319L, PXK and JAZF1) and one (KIAA0319L) new susceptibility loci for SSc and SLE, respectively, increasing significantly the knowledge of the genetic basis of autoimmunity.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3766185 | PMC |
| http://dx.doi.org/10.1093/hmg/ddt248 | DOI Listing |
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