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Polymorphic estrogen receptor binding site causes Cd2-dependent sex bias in the susceptibility to autoimmune diseases
Karolinska Institute, Solna, Sweden.
Karolinska Institute, Solna, Sweden; Southern Medical University, Guangzhou, China.ORCID iD: 0000-0001-7790-8197
Number of Authors: 102021 (English)In: Nature Communications, E-ISSN 2041-1723, Vol. 12, no 1, article id 5565Article in journal (Refereed) Published
Abstract [en]

Complex autoimmune diseases are sexually dimorphic. An interplay between predisposing genetics and sex-related factors probably controls the sex discrepancy in the immune response, but the underlying mechanisms are unclear. Here we positionally identify a polymorphic estrogen receptor binding site that regulates Cd2 expression, leading to female-specific differences in T cell-dependent mouse models of autoimmunity. Female mice with reduced Cd2 expression have impaired autoreactive T cell responses. T cells lacking Cd2 costimulation upregulate inhibitory Lag-3. These findings help explain sexual dimorphism in human autoimmunity, as we find that CD2 polymorphisms are associated with rheumatoid arthritis and 17-β-estradiol-regulation of CD2 is conserved in human T cells. Hormonal regulation of CD2 might have implications for CD2-targeted therapy, as anti-Cd2 treatment more potently affects T cells in female mice. These results demonstrate the relevance of sex-genotype interactions, providing strong evidence for CD2 as a sex-sensitive predisposing factor in autoimmunity.

Place, publisher, year, edition, pages
2021. Vol. 12, no 1, article id 5565
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Medical Genetics
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URN: urn:nbn:se:hh:diva-48318DOI: 10.1038/s41467-021-25828-5PubMedID: 34552089OAI: oai:DiVA.org:hh-48318DiVA, id: diva2:1702424
Available from: 2022-10-10 Created: 2022-10-10 Last updated: 2023-03-28Bibliographically approved

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Nandakumar, Kutty Selva

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CiteExportLink to record
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