{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T12:24:53Z","timestamp":1783513493457,"version":"3.55.0"},"reference-count":32,"publisher":"Bioscientifica","issue":"3","content-domain":{"domain":["journals.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2005,6,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Previous studies have suggested an association between alleles of the CYP27B1 (1-\u03b1 hydroxylase) gene and autoimmune conditions. We have examined three single nucleotide polymorphisms (SNPs) that are located in the 5\u2032 region and promoter of the CYP27B1 gene for association in a cohort of Graves\u2019 disease and autoimmune Addison\u2019s disease subjects from the UK. Genomic DNA samples from white patients with autoimmune Addison\u2019s disease (n=104) and healthy controls (n=464) were genotyped by PCR-RFLP analysis for the SNPs at positions \u22121260 and \u22121077 5\u2032 of the coding CYP27B1 sequences. The \u22121260 SNP was also examined in a cohort of patients with Graves\u2019 disease (n=446). \u03c72 testing of contingency tables was used to determine the significance of genotypes and alleles. Haplotype frequencies and linkage disequilibrium measures were estimated using the UNPHASED and HAPLOVIEW packages. Alleles at the three CYP27B1 markers were in tight linkage disequilibrium with each other and all showed association with autoimmune Addison\u2019s disease. The maximum evidence for association was with the \u22121260 C allele (76.0% in Addison\u2019s subjects versus 64.9% in controls; P=0.003; odds ratio 1.71 (5\u201395% confidence intervals, 1.20\u20132.44). A global test of significance for the common \u22121918 T, \u22121260 C and \u22121077 G haplotype was significant in Addison\u2019s subjects compared with controls (P=0.01). In contrast, there was no association of alleles at the \u22121260 SNP with Graves\u2019 disease. We are able to confirm that a CYP27B1 promoter allele is associated with autoimmune Addison\u2019s disease, and extend this finding to include an associated promoter haplotype.<\/jats:p>","DOI":"10.1677\/jme.1.01760","type":"journal-article","created":{"date-parts":[[2005,6,14]],"date-time":"2005-06-14T20:37:48Z","timestamp":1118781468000},"page":"859-863","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-6","source":"Crossref","is-referenced-by-count":38,"title":["A haplotype of the CYP27B1 promoter is associated with autoimmune Addison\u2019s disease but not with Graves\u2019 disease in a UK population"],"prefix":"10.1530","volume":"34","author":[{"given":"C E","family":"Jennings","sequence":"first","affiliation":[{"name":"Institute of Human Genetics, School of Clinical Medical Sciences, University of Newcastle, Newcastle upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C J","family":"Owen","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Clinical Medical Sciences, University of Newcastle, Newcastle upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V","family":"Wilson","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Clinical Medical Sciences, University of Newcastle, Newcastle upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S H S","family":"Pearce","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Clinical Medical Sciences, University of Newcastle, Newcastle upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","published-online":{"date-parts":[[2005,4,11]]},"reference":[{"key":"2026070808100116400_BAN-ETAL-2000","doi-asserted-by":"crossref","unstructured":"Ban\n            Y\n          , Ban Y, Taniyama M, Katagiri T 2000 Vitamin D initiation codon polymorphism in Japanese patients with Graves\u2019 disease. 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