A rare IL2RA haplotype identifies SNP rs61839660 as causal for autoimmunity
A rare IL2RA haplotype identifies SNP rs61839660 as causal for autoimmunity
Abstract IL2RA is associated with multiple autoimmune diseases including type 1 diabetes (T1D). Higher expression of IL2RA mRNA and its protein product CD25 in T lymphocytes is associated with a T1D-protective haplotype. Here we show that a rare variation of this haplotype that loses the protective allele at a single SNP, rs61839660, reduces IL2RA expression and T1D protection, identifying it as the causal factor in disease.
Walker Neil、Cutler Antony J.、Burren Oliver、Rainbow Daniel B.、Pekalski Marcin、Todd John A.、Wallace Chris、Wicker Linda S.
JDRF/Wellcome Trust Diabetes and Inflammation Laboratory, Wellcome Trust/MRC Building, Cambridge Institute for Medical Research, University of Cambridge, Cambridge Biomedical Research Campus||Current address Clinical Informatics, Cambridge University Hospitals NHS Foundation TrustJDRF/Wellcome Trust Diabetes and Inflammation Laboratory, Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, NIHR Oxford Biomedical Research Centre, University of Oxford||JDRF/Wellcome Trust Diabetes and Inflammation Laboratory, Wellcome Trust/MRC Building, Cambridge Institute for Medical Research, University of Cambridge, Cambridge Biomedical Research CampusJDRF/Wellcome Trust Diabetes and Inflammation Laboratory, Wellcome Trust/MRC Building, Cambridge Institute for Medical Research, University of Cambridge, Cambridge Biomedical Research Campus||Department of Medicine, Box 157, Level 4, Cambridge Biomedical Campus, University of CambridgeJDRF/Wellcome Trust Diabetes and Inflammation Laboratory, Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, NIHR Oxford Biomedical Research Centre, University of Oxford||JDRF/Wellcome Trust Diabetes and Inflammation Laboratory, Wellcome Trust/MRC Building, Cambridge Institute for Medical Research, University of Cambridge, Cambridge Biomedical Research CampusJDRF/Wellcome Trust Diabetes and Inflammation Laboratory, Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, NIHR Oxford Biomedical Research Centre, University of Oxford||JDRF/Wellcome Trust Diabetes and Inflammation Laboratory, Wellcome Trust/MRC Building, Cambridge Institute for Medical Research, University of Cambridge, Cambridge Biomedical Research CampusJDRF/Wellcome Trust Diabetes and Inflammation Laboratory, Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, NIHR Oxford Biomedical Research Centre, University of Oxford||JDRF/Wellcome Trust Diabetes and Inflammation Laboratory, Wellcome Trust/MRC Building, Cambridge Institute for Medical Research, University of Cambridge, Cambridge Biomedical Research CampusDepartment of Medicine, Box 157, Level 4, Cambridge Biomedical Campus, University of Cambridge||MRC Biostatistics Unit, University of Cambridge, School of Clinical Medicine, Cambridge Institute of Public Health, Cambridge Biomedical Campus,JDRF/Wellcome Trust Diabetes and Inflammation Laboratory, Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, NIHR Oxford Biomedical Research Centre, University of Oxford||JDRF/Wellcome Trust Diabetes and Inflammation Laboratory, Wellcome Trust/MRC Building, Cambridge Institute for Medical Research, University of Cambridge, Cambridge Biomedical Research Campus
基础医学生物科学研究方法、生物科学研究技术遗传学
Walker Neil,Cutler Antony J.,Burren Oliver,Rainbow Daniel B.,Pekalski Marcin,Todd John A.,Wallace Chris,Wicker Linda S..A rare IL2RA haplotype identifies SNP rs61839660 as causal for autoimmunity[EB/OL].(2025-03-28)[2025-05-05].https://www.biorxiv.org/content/10.1101/108126.点此复制
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