rs12328681 (IL1R1): Interleukin-1 Receptor Variant

Key takeaways

• The study data provided does not include direct findings for rs12328681 at the IL1R1 locus.
• The one available study examined early childhood asthma with severe exacerbations in 68,281 individuals (2,866 cases and 65,415 controls).
• Genome-wide significant loci in that study were near FUT2/MAMSTR, GSDMB, CDHR3, HLA-DQA1, and IL33, not at IL1R1.
• No drug response or lifestyle data for rs12328681 can be derived from the supplied materials.

What the research says The one study provided is a large-scale genome-wide association study of early childhood asthma with severe exacerbations (defined as at least one acute hospitalization for asthma before age 6), conducted in a Danish discovery cohort of 68,281 individuals (2,866 cases and 65,415 non-asthmatic controls) and replicated in 918 children from the COPSAC (Copenhagen Prospective Studies on Asthma in Childhood) birth cohorts. The study identified rs281379 near FUT2/MAMSTR as a novel genome-wide significant risk locus for this phenotype (OR 1.18, 95% CI 1.11-1.25), and confirmed previously reported loci near GSDMB (rs7219923, OR 1.65), CDHR3 (rs6967330, OR 1.41), HLA-DQA1 (rs1071630, OR 1.25), and IL33 (rs340933, OR 1.37; rs1342326, OR 1.31). The variant rs12328681 at the IL1R1 locus does not appear among the reported associations in this study.

Reported associations

• Early childhood asthma with severe exacerbations: rs12328681 at IL1R1 was not reported as a significant association in the provided study. The study reported genome-wide significant findings for other loci (FUT2/MAMSTR rs281379 OR 1.18, 95% CI 1.11-1.25; GSDMB rs7219923 OR 1.65, 95% CI 1.56-1.75; CDHR3 rs6967330 OR 1.41, 95% CI 1.32-1.51; HLA-DQA1 rs1071630 OR 1.25, 95% CI 1.18-1.32; IL33 rs340933 OR 1.37, 95% CI 1.26-1.49), none of which correspond to rs12328681.

Evidence quality The provided study is a large, well-powered GWAS with a discovery sample of 68,281 individuals and a replication cohort of 918 children, applying a genome-wide significance threshold of P < 5.0 x 10^-8. Despite the study's scale, rs12328681 at IL1R1 was not reported as a significant or suggestive association. Without a study that directly evaluates rs12328681, no assessment of evidence quality, effect size, or replication status for this specific variant is possible from the provided materials.

Lifestyle considerations No lifestyle considerations on file for this variant.