rs10521318 (LINC02132): SLE and IBD Research Locus

Key takeaways

• rs10521318 lies between two long intergenic non-coding RNA genes, LINC02132 and LINC01082, in a region that does not encode proteins.
• Studies on file investigated this locus in the context of systemic lupus erythematosus (SLE) and inflammatory bowel disease (IBD).
• A Korean SLE genome-wide association study (GWAS) identified 11 non-HLA risk loci at genome-wide significance and noted that a substantial portion of heritable SLE risk remains unexplained.
• A large IBD meta-analysis across more than 75,000 cases and controls found that most risk signals fall in non-coding genomic regions.
• Specific association data for rs10521318 are not reported in the available study excerpts; evidence for this variant should be regarded as preliminary.

What the research says A GWAS of 1,174 Korean SLE cases and 4,248 population controls identified 11 regions outside the HLA (Human Leukocyte Antigen, a cluster of immune system genes) at genome-wide significance (P < 5 x 10-8) and replicated 10 previously established SLE risk loci, while noting that a significant proportion of heritable risk for this condition remains unexplained. A meta-analysis combining data from 15 GWAS studies plus an independent validation set of more than 75,000 IBD cases and controls identified 163 genome-wide significant loci, increasing disease variance explained from 8.2% to 13.6% in Crohn's disease (CD) and from 4.1% to 7.5% in ulcerative colitis (UC); 64 of those 163 signals fall near variants known to regulate gene expression (expression quantitative trait loci, or eQTLs). Specific p-values or effect sizes for rs10521318 are not reported in the provided excerpts.

Reported associations

• Systemic lupus erythematosus (SLE): Investigated in a Korean GWAS that identified 11 non-HLA loci at genome-wide significance; specific association statistics for rs10521318 are not reported in the available study excerpt.
• Inflammatory bowel disease (IBD): Investigated in a large multi-cohort meta-analysis that identified 163 genome-wide significant loci across CD and UC; specific statistics for this variant are not reported in the available excerpt.

Evidence quality The Korean SLE study enrolled 1,174 cases and 4,248 controls with replication in an independent cohort of 1,412 cases and 1,163 controls from Korean and Chinese ancestries, applying strict genotyping quality thresholds (call rate >95%, minor allele frequency >1%, and filtering for expected allele frequency distributions). The IBD meta-analysis combined 15 GWAS datasets and an independent validation set totaling more than 75,000 individuals, with statistical inflation reduced from a genomic control factor of 2.00 to 1.23 after correcting for population structure, a level consistent with genuine polygenic signal rather than confounding. Neither provided excerpt reports a genome-wide significant p-value or effect size specifically for rs10521318; the evidence for this variant should be regarded as preliminary and incomplete based on the available sources.

Lifestyle considerations No lifestyle considerations on file for this variant.