{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,25]],"date-time":"2025-07-25T10:05:47Z","timestamp":1753437947365,"version":"3.37.3"},"reference-count":33,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2023,1,11]],"date-time":"2023-01-11T00:00:00Z","timestamp":1673395200000},"content-version":"vor","delay-in-days":1,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,1,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Autoimmune Addison's disease (AAD) arises from a complex interplay between multiple genetic susceptibility polymorphisms and environmental factors. The first genome wide association study (GWAS) with patients from Scandinavian Addison's registries has identified association signals at four novel loci in the genes LPP, SH2B3, SIGLEC5, and UBASH3A.<\/jats:p>\n               <jats:p>To verify these novel risk loci, we performed a case\u2013control association study in our independent cohort of 420 patients with AAD from the across the UK.<\/jats:p>\n               <jats:p>We report significant association of alleles of the LPP and UBASH3A genes [odds ratio (95% confidence intervals), 1.46 (1.21-1.75)and 1.40 (1.16-1.68), respectively] with AAD in our UK cohort. In addition, we report nominal association of AAD with SH2B3 [OR 1.18 (1.02-1.35)].<\/jats:p>\n               <jats:p>We confirm that variants at the LPP and UBASH3A loci confer susceptibility to AAD in a UK population. Further studies with larger patient cohorts are required to robustly confirm the association of SH2B3 and SIGLEC5\/SPACA6 alleles.<\/jats:p>","DOI":"10.1093\/ejendo\/lvac010","type":"journal-article","created":{"date-parts":[[2023,1,11]],"date-time":"2023-01-11T18:06:52Z","timestamp":1673460412000},"page":"K1-K4","source":"Crossref","is-referenced-by-count":4,"title":["Replication of association at the LPP and UBASH3A loci in a UK autoimmune Addison's disease cohort"],"prefix":"10.1093","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7169-2356","authenticated-orcid":false,"given":"Sophie","family":"Howarth","sequence":"first","affiliation":[{"name":"Translational and Clinical Research Institute, Newcastle University , Newcastle-upon-Tyne, NE1 7RU , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georgina","family":"Sneddon","sequence":"additional","affiliation":[{"name":"Translational and Clinical Research Institute, Newcastle University , Newcastle-upon-Tyne, NE1 7RU , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathleen R","family":"Allinson","sequence":"additional","affiliation":[{"name":"Translational and Clinical Research Institute, Newcastle University , Newcastle-upon-Tyne, NE1 7RU , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salman","family":"Razvi","sequence":"additional","affiliation":[{"name":"Translational and Clinical Research Institute, Newcastle University , Newcastle-upon-Tyne, NE1 7RU , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna L","family":"Mitchell","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, The Newcastle upon Tyne Hospitals NHS Foundation Trust , Newcastle upon Tyne, NE1 4LP , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8384-8063","authenticated-orcid":false,"given":"Simon H S","family":"Pearce","sequence":"additional","affiliation":[{"name":"Translational and Clinical Research Institute, Newcastle University , Newcastle-upon-Tyne, NE1 7RU , UK"},{"name":"Department of Endocrinology, The Newcastle upon Tyne Hospitals NHS Foundation Trust , Newcastle upon Tyne, NE1 4LP , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2023,1,11]]},"reference":[{"key":"2023072118280081200_lvac010-B1","doi-asserted-by":"crossref","first-page":"1407","DOI":"10.1007\/s40618-019-01079-6","article-title":"Epidemiology, pathogenesis, and diagnosis of Addison's disease in adults","volume":"42(12)","author":"Betterle","year":"2019","journal-title":"J Endocrinol Invest."},{"key":"2023072118280081200_lvac010-B2","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1016\/S0140-6736(21)00136-7","article-title":"Adrenal 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