rs10167243 (CD207): Atopic Dermatitis Risk Locus
Key takeaways
- rs10167243 sits near CD207 (Langerin), a gene active in Langerhans cells, the immune sentinels of the skin.
- A genome-wide study of over one million people linked this locus to atopic dermatitis (eczema) risk.
- Genetic effects at this locus are stronger in severe eczema cases than in mild ones.
- The alternate allele increases CD207 activity in two skin tissue types and reduces it in the heart left ventricle.
Key takeaways
- rs10167243 sits near CD207 (Langerin), a gene active in Langerhans cells, the immune sentinels of the skin.
- A genome-wide study of over one million people linked this locus to atopic dermatitis (eczema) risk.
- Genetic effects at this locus are stronger in severe eczema cases than in mild ones.
- The alternate allele increases CD207 activity in two skin tissue types and reduces it in the heart left ventricle.
What the research says A genome-wide meta-analysis of atopic dermatitis (AD) identified this locus as one of 77 independent AD-associated loci detected across 37,541 cases and 1,056,519 controls pooled from FinnGen, the Estonian Biobank, the UK Biobank, the EAGLE Consortium, and BioBank Japan. Ten of the 77 associated loci were described as previously unreported, and the full set showed enrichment in immune regulatory processes. Subgroup analyses found that 55 of 79 tested variants showed larger effect estimates for severe AD than for mild AD, and certain risk alleles were linked to younger age at first hospital diagnosis with AD.
Reported associations
- Atopic dermatitis risk: This locus was identified among 77 independent AD-associated loci in a meta-analysis of 37,541 cases and 1,056,519 controls across five major biobanks.
- Severe atopic dermatitis: Effect estimates at this locus were larger for severe AD (defined by treatment intensity received) than for mild AD, based on FinnGen subgroup analysis.
- Age of onset: Risk alleles at the detected loci were associated with younger age at first hospital visit for an AD diagnosis, based on FinnGen subgroup analysis.
- CD207 expression in skin: The alternate allele is associated with increased CD207 expression in sun-exposed lower-leg skin and in non-sun-exposed suprapubic skin GTEx Portal.
- CD207 expression in heart: The alternate allele is associated with reduced CD207 expression in the heart left ventricle GTEx Portal.
Evidence quality The atopic dermatitis association draws on a single large genome-wide meta-analysis of 1,094,060 individuals (37,541 AD cases), providing substantial statistical power and cross-population support from five independent biobanks. No specific odds ratio or beta coefficient for rs10167243 individually was reported in the available study text, so individual risk magnitude cannot be precisely quantified from this entry. The subgroup findings on AD severity and age of onset were derived only from the FinnGen subset and should be considered exploratory pending independent replication in separate cohorts. GTEx v11 data (953 donors) show consistent eQTL effects for CD207 across two skin tissue types (slopes +0.33 and +0.30, both at FDR < 0.05) and in the heart left ventricle (slope -0.38, FDR < 0.05), strengthening the biological plausibility of CD207 as the functional target at this locus, though these expression-level associations reflect mechanism rather than direct indicators of clinical outcome.
Tissue-specific expression effects
- CD207: The alternate allele is associated with increased expression in sun-exposed lower-leg skin and non-sun-exposed suprapubic skin, and with reduced expression in the heart left ventricle GTEx Portal.
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What is CD207 (Langerin) and what does it do?
CD207, also called Langerin, is a protein produced primarily in Langerhans cells, the immune surveillance cells found in the outermost layer of the skin. Its encoding gene sits at the locus containing rs10167243, which has been linked to atopic dermatitis in large-scale genetic research.
Is rs10167243 linked to eczema (atopic dermatitis)?
Yes. A large genome-wide meta-analysis of 37,541 eczema cases and over one million controls identified this locus as one of 77 genetic regions associated with atopic dermatitis risk.
Does rs10167243 affect how severe eczema is, not just whether you get it?
Research suggests genetic effects at this locus are larger in people with severe eczema compared to those with mild disease. This finding comes from a subgroup analysis within one biobank (FinnGen) and should be considered preliminary until independently replicated.
What does rs10167243 do to CD207 gene expression?
Based on GTEx gene expression data, the alternate allele is associated with increased CD207 activity in both sun-exposed and non-sun-exposed skin, and with reduced CD207 activity in the heart left ventricle. These are tissue-level expression associations and do not directly predict disease outcomes.
How strong is the evidence linking rs10167243 to atopic dermatitis?
The association comes from a single genome-wide meta-analysis with over one million participants across five biobanks, providing strong statistical power. No individual odds ratio for this specific variant was reported in the available study text, and the severity subgroup findings have not yet been independently replicated.