{"data":{"id":"10.6084/m9.figshare.9702947.v5","type":"dois","attributes":{"doi":"10.6084/m9.figshare.9702947.v5","prefix":"10.6084","suffix":"m9.figshare.9702947.v5","identifiers":[],"alternateIdentifiers":[],"creators":[{"name":"Frommer, Lara","nameType":"Personal","givenName":"Lara","familyName":"Frommer","affiliation":[],"nameIdentifiers":[]},{"name":"Flesch, Brigitte","nameType":"Personal","givenName":"Brigitte","familyName":"Flesch","affiliation":[],"nameIdentifiers":[]},{"name":"König, Jochem","nameType":"Personal","givenName":"Jochem","familyName":"König","affiliation":[],"nameIdentifiers":[]},{"name":"Kahaly, George","nameType":"Personal","givenName":"George","familyName":"Kahaly","affiliation":[],"nameIdentifiers":[]}],"titles":[{"title":"JCEM-jc-2019-01933-FROMMER-SUPPLEMENTAL_MATERIAL"}],"publisher":"figshare","container":{},"publicationYear":2019,"subjects":[{"subject":"110306 Endocrinology","subjectScheme":"FOR"},{"subject":"FOS: Clinical medicine","schemeUri":"http://www.oecd.org/science/inno/38235147.pdf","subjectScheme":"Fields of Science and Technology (FOS)"},{"subject":"FOS: Clinical medicine","subjectScheme":"Fields of Science and Technology (FOS)"},{"subject":"110311 Medical Genetics (excl. Cancer Genetics)","subjectScheme":"FOR"},{"subject":"FOS: Basic medicine","schemeUri":"http://www.oecd.org/science/inno/38235147.pdf","subjectScheme":"Fields of Science and Technology (FOS)"},{"subject":"FOS: Basic medicine","subjectScheme":"Fields of Science and Technology (FOS)"},{"subject":"Genetics"},{"subject":"FOS: Biological sciences","schemeUri":"http://www.oecd.org/science/inno/38235147.pdf","subjectScheme":"Fields of Science and Technology (FOS)"},{"subject":"FOS: Biological sciences","subjectScheme":"Fields of Science and Technology (FOS)"},{"subject":"110706 Immunogenetics (incl. Genetic Immunology)","subjectScheme":"FOR"}],"contributors":[],"dates":[{"date":"2019-10-11","dateType":"Created"},{"date":"2019-10-11","dateType":"Updated"},{"date":"2019","dateType":"Issued"}],"language":null,"types":{"ris":"DATA","bibtex":"misc","citeproc":"dataset","schemaOrg":"Dataset","resourceType":"Dataset","resourceTypeGeneral":"Dataset"},"relatedIdentifiers":[{"relationType":"IsIdenticalTo","relatedIdentifier":"10.6084/m9.figshare.9702947","relatedIdentifierType":"DOI"}],"relatedItems":[],"sizes":["803424 Bytes"],"formats":[],"version":null,"rightsList":[{"rights":"Creative Commons Attribution 4.0 International","rightsUri":"https://creativecommons.org/licenses/by/4.0/legalcode","schemeUri":"https://spdx.org/licenses/","rightsIdentifier":"cc-by-4.0","rightsIdentifierScheme":"SPDX"}],"descriptions":[{"description":"\u003cbr\u003e\u003cb\u003eContext\u003c/b\u003e: The structure of the human leucocyte antigen (HLA) peptide-binding clefts strongly contributes to monoglandular and polyglandular autoimmunity (AP). \u003cbr\u003e\u003cb\u003eObjective\u003c/b\u003e: To investigate the impact of amino acid polymorphisms on the peptide binding interactions within HLA class II and its association with AP \u003cbr\u003e\u003cb\u003eDesign: \u003c/b\u003eimmunogenetic study \u003cbr\u003e\u003cb\u003eSetting\u003c/b\u003e: Tertiary referral center for autoimmune endocrine diseases \u003cbr\u003e\u003cb\u003eSubjects\u003c/b\u003e: 587 subjects with AP, autoimmune thyroid disease (AITD), type 1 diabetes (T1D) and healthy unrelated controls were typed for HLA class II. \u003cbr\u003e\u003cb\u003eMethods: \u003c/b\u003eAmino acids within the peptide binding cleft that are encoded by HLA class II exon 2 were listed for all codon positions in all subjects. Overall comparisons between disease and control groups with respect to allele distribution at a given locus were performed by assembling rare alleles applying an exact Freeman Halton contingency table test with Monte-Carlo p values based on 150,000 samples. \u003cbr\u003e\u003cb\u003eResults\u003c/b\u003e: The Montecarlo Exact Fisher Test demonstrated marked differences in all three Loci, \u003ci\u003eDQA1\u003c/i\u003e, \u003ci\u003eDQB1\u003c/i\u003e, \u003ci\u003eDRB1\u003c/i\u003e (p\u0026lt;0.0001) between AP versus both AITD and controls, as well as between AP type II (Addison’s disease as major endocrine component) and AP type III (T1D + AITD). Differences were also noted between AP and T1D pertaining to the \u003ci\u003eDRB1\u003c/i\u003e allele (p\u0026lt;0.041). The following seven amino acid positions DRB1-13, DRB1-26, DRB1-71, DRB1-74, DQA1-47, DQA1-56, and DQB1-57 significantly contributed to AP. Five positions in \u003ci\u003eDQA1\u003c/i\u003e (11, 47, 50, 56, and 69) completely correlated (p\u0026lt;0.0001). \u003cbr\u003e\u003cb\u003eConclusion\u003c/b\u003e: Amino acid polymorphisms within HLA class II exon 2 mediate the AP risk and differentiate between thyroid and polyglandular autoimmunity. \u003cbr\u003e","descriptionType":"Abstract"}],"geoLocations":[],"fundingReferences":[],"xml":"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