{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T23:36:19Z","timestamp":1784158579537,"version":"3.55.0"},"reference-count":20,"publisher":"The Endocrine Society","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2007,8,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Context: A recent large-scale analysis of nonsynonymous coding polymorphisms showed strong evidence that an alanine to threonine amino acid change at codon 946 of the interferon-induced helicase (IFIH1) gene (SNP ID rs1990760) was associated with type 1 diabetes. Previous investigations have also demonstrated that an intronic polymorphism (termed PD1.3; SNP ID rs11568821) in the programmed cell death (PDCD1) gene was associated with systemic lupus erythematosus and rheumatoid arthritis.<\/jats:p>\n               <jats:p>Objective: We sought to replicate these genetic associations in Graves\u2019 disease and autoimmune Addison\u2019s disease patient cohorts.<\/jats:p>\n               <jats:p>Patients and Methods: A total of 602 Graves\u2019 disease subjects, 214 Addison\u2019s disease subjects, and 446 healthy controls were genotyped for the IFIH1 and PDCD1 single-nucleotide polymorphisms using mass spectrometer analysis of primer extension products (Sequenom).<\/jats:p>\n               <jats:p>Results: The alanine-carrying allele at the IFIH1 codon 946 polymorphism was present in 796 of 1204 (66%) Graves\u2019 disease patient alleles compared with 508 of 892 (57%) control subject alleles [odds ratio 1.47 (5\u201395% confidence interval, 1.23\u20131.76); P = 1.9 \u00d7 10\u22125]. In contrast, there was no association of alleles at this marker in autoimmune Addison\u2019s disease. Neither was there evidence for association in either patient cohort at the PD1.3 polymorphism.<\/jats:p>\n               <jats:p>Conclusions: We confirm a significant contribution of the Ala946Thr IFIH1 polymorphism to organ-specific autoimmune diseases, extending the range of conditions associated with this variant to include Graves\u2019 disease. This polymorphism may also contribute to several other autoimmune disorders.<\/jats:p>","DOI":"10.1210\/jc.2007-0173","type":"journal-article","created":{"date-parts":[[2007,5,30]],"date-time":"2007-05-30T01:38:49Z","timestamp":1180489129000},"page":"3338-3341","source":"Crossref","is-referenced-by-count":94,"title":["Genomic Polymorphism at the Interferon-Induced Helicase (IFIH1) Locus Contributes to Graves\u2019 Disease Susceptibility"],"prefix":"10.1210","volume":"92","author":[{"given":"Alison","family":"Sutherland","sequence":"first","affiliation":[{"name":"Institute of Human Genetics (A.S., J.D., C.J.O., H.J.C., S.H.S.P.), Newcastle University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jocelyn","family":"Davies","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics (A.S., J.D., C.J.O., H.J.C., S.H.S.P.), Newcastle University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine J.","family":"Owen","sequence":"additional","affiliation":[{"name":"School of Clinical Medical Sciences (C.J.O., C.W., T.D.C., R.A.J., P.P., P.T.D., R.Q., S.H.S.P.), Newcastle University"},{"name":"Institute of Human Genetics (A.S., J.D., C.J.O., H.J.C., S.H.S.P.), Newcastle University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suresh","family":"Vaikkakara","sequence":"additional","affiliation":[{"name":"Endocrine Unit, Royal Victoria Infirmary (S.V., T.D.C., R.A.J., R.Q., S.H.S.P.), Newcastle upon Tyne NE1 3BZ, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Walker","sequence":"additional","affiliation":[{"name":"School of Clinical Medical Sciences (C.J.O., C.W., T.D.C., R.A.J., P.P., P.T.D., R.Q., S.H.S.P.), Newcastle University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy D.","family":"Cheetham","sequence":"additional","affiliation":[{"name":"Endocrine Unit, Royal Victoria Infirmary (S.V., T.D.C., R.A.J., R.Q., S.H.S.P.), Newcastle upon Tyne NE1 3BZ, United Kingdom"},{"name":"School of Clinical Medical Sciences (C.J.O., C.W., T.D.C., R.A.J., P.P., P.T.D., R.Q., S.H.S.P.), Newcastle University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. Andrew","family":"James","sequence":"additional","affiliation":[{"name":"Endocrine Unit, Royal Victoria Infirmary (S.V., T.D.C., R.A.J., R.Q., S.H.S.P.), Newcastle upon Tyne NE1 3BZ, United Kingdom"},{"name":"School of Clinical Medical Sciences (C.J.O., C.W., T.D.C., R.A.J., P.P., P.T.D., R.Q., S.H.S.P.), Newcastle University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petros","family":"Perros","sequence":"additional","affiliation":[{"name":"Department of Freeman Hospital (P.P.), Newcastle upon Tyne NE1 3BZ, United Kingdom"},{"name":"School of Clinical Medical Sciences (C.J.O., C.W., T.D.C., R.A.J., P.P., P.T.D., R.Q., S.H.S.P.), Newcastle University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter T.","family":"Donaldson","sequence":"additional","affiliation":[{"name":"School of Clinical Medical Sciences (C.J.O., C.W., T.D.C., R.A.J., P.P., P.T.D., R.Q., S.H.S.P.), Newcastle University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather J.","family":"Cordell","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics (A.S., J.D., C.J.O., H.J.C., S.H.S.P.), Newcastle University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Quinton","sequence":"additional","affiliation":[{"name":"Endocrine Unit, Royal Victoria Infirmary (S.V., T.D.C., R.A.J., R.Q., S.H.S.P.), Newcastle upon Tyne NE1 3BZ, United Kingdom"},{"name":"School of Clinical Medical Sciences (C.J.O., C.W., T.D.C., R.A.J., P.P., P.T.D., R.Q., S.H.S.P.), Newcastle University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon H. 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