Expressive

rs11644034 - LINC02132 - LINC01082

Magnitude 2.8 · 2 studies on file

Reported associations

  • Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus - Unknown journal (n.d.) · Unknown authors · PubMed 26502338

    ABSTRACT: Systemic lupus erythematosus (SLE; OMIM 152700) is a genetically complex autoimmune disease characterized by loss of immune tolerance to nuclear and cell surface antigens. Previous genome-wide association studies (GWAS) had modest sample sizes, reducing their scope and reliability. Our study comprised 7,219 cases and 15,991 controls of European ancestry: a new GWAS, meta-analysis with a published GWAS and a replication study. We have mapped 43 susceptibility loci, including 10 novel associations. Assisted by dense genome coverage, imputation provided evidence for missense variants underpinning associations in eight genes. Other likely causal genes were established by examining associated alleles for cis-acting eQTL effects in a range of ex vivo immune cells. We found an over-repr

  • Multi-ancestry and multi-trait genome-wide association meta-analyses inform clinical risk prediction for systemic lupus erythematosus - Unknown journal (n.d.) · Unknown authors · PubMed 36750564

    ABSTRACT: Systemic lupus erythematosus is a heritable autoimmune disease that predominantly affects young women. To improve our understanding of genetic etiology, we conduct multi-ancestry and multi-trait meta-analysis of genome-wide association studies, encompassing 12 systemic lupus erythematosus cohorts from 3 different ancestries and 10 genetically correlated autoimmune diseases, and identify 16 novel loci. We also perform transcriptome-wide association studies, computational drug repurposing analysis, and cell type enrichment analysis. We discover putative drug classes, including a histone deacetylase inhibitor that could be repurposed to treat lupus. We also identify multiple cell types enriched with putative target genes, such as non-classical monocytes and B cells, which may be tar

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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Discuss with your doctor

  • SLE genetic risk and clinical monitoring strategy High

    rs11644034 G allele significantly increases SLE susceptibility; early identification and monitoring of autoimmune manifestations allows timely intervention to prevent organ damage.

Lifestyle

  • Excessive UV and sun exposure Moderate

    Photosensitivity is a major SLE trigger and can precipitate disease flares in genetically susceptible individuals; rs11644034 carriers carry elevated baseline genetic risk.

    Limit direct midday sun exposure (10 AM - 4 PM); use SPF 30+ broad-spectrum sunscreen daily; wear protective clothing (long sleeves, wide-brimmed hats) when outdoors.

Screening

  • SLE autoimmune marker screening High

    rs11644034 G allele carriers have 1.25-fold increased genetic risk of systemic lupus erythematosus via altered IRF8 expression affecting innate and adaptive immunity.

    Baseline testing: ANA, anti-dsDNA antibodies, complement levels (C3/C4). Repeat annually if family history of SLE or symptoms develop (photosensitivity, malar rash, joint pain, constitutional symptoms).