{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,14]],"date-time":"2023-10-14T08:15:02Z","timestamp":1697271302313},"reference-count":25,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2006,7,6]],"date-time":"2006-07-06T00:00:00Z","timestamp":1152144000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2006,9]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p><jats:bold>Objective\u2002<\/jats:bold> The protein\u2010tyrosine\u2010phosphate nonreceptor 22 gene (<jats:italic>PTPN22<\/jats:italic>) has recently been identified as a susceptibility locus for a number of autoimmune diseases including Graves\u2019 disease (GD). PTPN21 is another member of the PTPN family and its gene <jats:italic>PTPN21<\/jats:italic> maps to the first reported region of genetic linkage to GD, GD\u22121, on chromosome 14q31. The aim of this study was to determine whether <jats:italic>PTPN21<\/jats:italic> is acting as a GD susceptibility locus in UK Caucasian subjects.<\/jats:p><jats:p><jats:bold>Design\u2002<\/jats:bold> A case control association study of seven Tag single nucleotide polymorphisms (SNPs) (rs1469602, rs8007288, rs1998670, rs11622270, rs2274736, rs2295136 and rs366476) selected to predict 51 un\u2010genotyped polymorphisms present within PTPN21.<\/jats:p><jats:p><jats:bold>Patients\u2002<\/jats:bold> Unrelated Caucasian patients of UK origin with GD and ethnically and gender matched control subjects with no family history of autoimmune disease were recruited. In total, DNA was obtained from 768\u00a0GD patients and 768 control subjects.<\/jats:p><jats:p><jats:bold>Results\u2002<\/jats:bold> No association of any of the seven Tag SNPs was detected with GD. Preliminary evidence of association of rs2274736 was found with younger age of GD onset (0\u201330\u00a0years) (O<jats:italic>R<\/jats:italic>\u00a0=\u00a01. 48 [95% CI\u00a0=\u00a01\u00b711\u20131\u00b797]). No other correlations with clinical phenotype or previously established susceptibility loci were detected.<\/jats:p><jats:p><jats:bold>Conclusions\u2002<\/jats:bold> Using a Tag SNP approach we screened <jats:italic>PTPN21<\/jats:italic> as a susceptibility locus for GD and found no evidence for association with disease. Preliminary evidence for association of rs2274736 with younger age of GD onset requires replication in similar sized data sets to exclude a false positive result. Methods such as the Tag SNP approach significantly reduce the amount of genotyping required when screening candidate loci, including those within regions of chromosomal linkage.<\/jats:p>","DOI":"10.1111\/j.1365-2265.2006.02608.x","type":"journal-article","created":{"date-parts":[[2006,7,7]],"date-time":"2006-07-07T13:07:04Z","timestamp":1152277624000},"page":"380-384","source":"Crossref","is-referenced-by-count":3,"title":["Use of Tag single nucleotide polymorphisms (SNPs) to screen <i>PTPN21<\/i>: no association with Graves\u2019 disease"],"prefix":"10.1111","volume":"65","author":[{"given":"A. A.","family":"Zeitlin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. M.","family":"Heward","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O. J.","family":"Brand","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P. R.","family":"Newby","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. A.","family":"Franklyn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. C. L.","family":"Gough","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. J.","family":"Simmonds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,7,6]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1323"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1086\/422827"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1086\/468189"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.2337\/diabetes.53.11.3020"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2004-1108"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1017\/S1462399405009981"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M007772200"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0952-7915(02)00345-X"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.91.22.10606"},{"key":"e_1_2_6_11_2","doi-asserted-by":"crossref","first-page":"23857","DOI":"10.1016\/S0021-9258(19)51014-6","article-title":"B\u2010cell antigen receptor stimulation activates the human Bruton's tyrosine kinase, which is deficient in X\u2010linked agammaglobulinemia","volume":"269","author":"De Weers M.","year":"1994","journal-title":"Journal of Biological Chemistry"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0952-7915(00)00221-1"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/1074-7613(95)90026-8"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.91.16.7477"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.84.12.4656"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1086\/378588"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-1634"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bth457"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrg1522"},{"key":"e_1_2_6_20_2","first-page":"106","volume-title":"Detection of Immune\u2010Associated Genetic Markers of Human Disease","author":"Matthews J.D.","year":"1984"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1086\/426947"},{"key":"e_1_2_6_22_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature01621"},{"key":"e_1_2_6_23_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201485"},{"key":"e_1_2_6_24_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-0686"},{"key":"e_1_2_6_25_2","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2156-7-22"},{"key":"e_1_2_6_26_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2005.02279.x"}],"container-title":["Clinical Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1365-2265.2006.02608.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1365-2265.2006.02608.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,13]],"date-time":"2023-10-13T22:54:11Z","timestamp":1697237651000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1365-2265.2006.02608.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,7,6]]},"references-count":25,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2006,9]]}},"alternative-id":["10.1111\/j.1365-2265.2006.02608.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1365-2265.2006.02608.x","archive":["Portico"],"relation":{},"ISSN":["0300-0664","1365-2265"],"issn-type":[{"value":"0300-0664","type":"print"},{"value":"1365-2265","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,7,6]]}}}