{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T21:20:13Z","timestamp":1791062413892,"version":"4.1.0"},"reference-count":40,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,6,14]],"date-time":"2013-06-14T00:00:00Z","timestamp":1371168000000},"content-version":"vor","delay-in-days":164,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Clinical Pharma"],"published-print":{"date-parts":[[2013,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>The authors have analyzed single nucleotide polymorphisms in the thiopurine S\u2010methyltransferase (<jats:italic>TPMT<\/jats:italic>) gene in the context of efficacy and toxicity of azathioprine (AZA) to determine possible genotype\u2010phenotype correlations between <jats:italic>TPMT<\/jats:italic> allelic variants and response to AZA treatment in 76 Italian patients with myasthenia gravis. They confirm known intronic and exonic <jats:italic>TPMT<\/jats:italic> polymorphisms that do not correlate with AZA responses and demonstrate a novel intronic polymorphism in a patient intolerant to AZA. Most importantly, they show that of the 22 AZA\u2010intolerant patients, all 5 who carried mutations of the intolerance\u2010linked haplotype <jats:italic>TPMT<\/jats:italic>*3A also carried the intronic T140+114A (rs3931660), all 3 mutations being part of a new haplotype designated <jats:italic>TMPT<\/jats:italic>*3E. <jats:italic>TPMT<\/jats:italic>*3E was not observed in unresponsive or responsive patients. The association of <jats:italic>TPMT*<\/jats:italic>3E with AZA intolerance and its frequency must be ascertained in larger, ethnically different cohorts. Nevertheless, in view of the highly significant association (<jats:italic>Psim<\/jats:italic> = 0.0026) between <jats:italic>TPMT<\/jats:italic>*3E and AZA intolerance in the study, this new haplotype should be taken into consideration in pharmacogenetic profiling for AZA.<\/jats:p><\/jats:sec>","DOI":"10.1177\/0091270011435989","type":"journal-article","created":{"date-parts":[[2012,2,5]],"date-time":"2012-02-05T01:32:23Z","timestamp":1328405543000},"page":"67-74","source":"Crossref","is-referenced-by-count":20,"title":["A New Thiopurine S\u2010Methyltransferase Haplotype Associated With Intolerance to Azathioprine"],"prefix":"10.1002","volume":"53","author":[{"given":"Lara","family":"Colleoni","sequence":"first","affiliation":[{"name":"Neurology IV Foundation IRCCS Neurological Institute \u201cCarlo Besta,\u201d  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dimos","family":"Kapetis","sequence":"additional","affiliation":[{"name":"Neurology IV 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