{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T15:09:31Z","timestamp":1772204971414,"version":"3.50.1"},"reference-count":56,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,5,8]],"date-time":"2021-05-08T00:00:00Z","timestamp":1620432000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,5,8]],"date-time":"2021-05-08T00:00:00Z","timestamp":1620432000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Endocrine"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Purpose<\/jats:title>\n                <jats:p>Genetically predisposed individuals may develop several autoimmune diseases\u2014autoimmune polyendocrine syndromes (APS). APS types 2\u20134, are complex disorders, which combine various organ-specific autoimmune conditions. Recent reports support the considerable role of the <jats:italic>BACH2<\/jats:italic> gene in immune cell differentiation and shifting the T-cell balance towards regulatory T-cells. <jats:italic>BACH2<\/jats:italic> polymorphisms are associated with autoimmune disorders, including Addison\u2019s disease (AD), Graves\u2019 disease (GD), and probably type 1 diabetes (T1D). Our study was aimed to investigate the <jats:italic>BACH2<\/jats:italic> variant, rs3757247, in endocrine autoimmunity in the Polish population.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>The analysis comprised 346 individuals with APS, 387 with T1D only, and 568 controls. Genotyping was performed using TaqMan chemistry.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>APS type 2 was found in 219 individuals, type 3 in 102, and type 4 in 25 subjects. Overall, AD was diagnosed in 244 subjects, Hashimoto\u2019s thyroiditis\u2014in 238, T1D\u2014in 127, GD\u2014in 58, vitiligo and chronic gastritis each in 40 patients, celiac disease\u2014in 28, premature menopause in 18, and alopecia in 4 patients. Minor T allele at rs3757247 was found in 56.4% APS vs. 44.1% control alleles (OR 1.59; 95%CI: 1.30\u20131.95, <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.0001). The distribution of genotypes revealed excess TT homozygotes in the APS cohort (33.2 vs. 20.1% in controls, <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.0001). The frequencies of rs3757247 alleles and genotypes in T1D patients did not present significant differences vs. controls (<jats:italic>p<\/jats:italic>-values\u2009&gt;\u20090.05).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>These results provide evidence of the association between <jats:italic>BACH2<\/jats:italic> polymorphism and polyglandular autoimmunity. Since carriers of rs3757247 display increased risk for additional autoimmune conditions, this variant could identify individuals prone to develop APS.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s12020-021-02743-9","type":"journal-article","created":{"date-parts":[[2021,5,8]],"date-time":"2021-05-08T18:02:42Z","timestamp":1620496962000},"page":"72-79","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Polymorphism in BACH2 gene is a marker of polyglandular autoimmunity"],"prefix":"10.1007","volume":"74","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2865-7074","authenticated-orcid":false,"given":"Marta","family":"Fichna","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Magdalena","family":"\u017burawek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bartosz","family":"S\u0142omi\u0144ski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Sumi\u0144ska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agata","family":"Czarnywojtek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia","family":"Rozwadowska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piotr","family":"Fichna","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ma\u0142gorzata","family":"My\u015bliwiec","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marek","family":"Rucha\u0142a","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,5,8]]},"reference":[{"key":"2743_CR1","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1006\/clin.1997.4412","volume":"84","author":"DL Jacobson","year":"1997","unstructured":"D.L. 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