{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T03:37:30Z","timestamp":1787801850668,"version":"build-2784847793"},"reference-count":38,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2008,11,25]],"date-time":"2008-11-25T00:00:00Z","timestamp":1227571200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"National Cancer Institute (Cancer Center Support","award":["CA-21765"],"award-info":[{"award-number":["CA-21765"]}]},{"name":"State of Tennessee"},{"DOI":"10.13039\/100012524","name":"American Lebanese Syrian Associated Charities","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100012524","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2009,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Polymorphisms that reduce the activity of thiopurine<jats:italic>S<\/jats:italic>\u2010methyltransferase (TPMT) cause adverse reactions to conventional doses of thiopurines, routinely used for antileukemic and immunosuppressive treatment. There are more than 20 variant alleles of TPMT that cause decreased enzymatic activity. We studied the most common variant alleles of TPMT and their frequency distribution in a large cohort of multiracial residents in the Russian Federation and compared their frequencies in children with and without malignancy to determine whether<jats:italic>TPMT<\/jats:italic>gene abnormality is associated with hematologic malignancy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Procedure<\/jats:title><jats:p>The<jats:italic>TPMT<\/jats:italic>biochip was used to detect 6<jats:italic>TPMT<\/jats:italic>single nucleotide polymorphisms (SNPs) corresponding to 7 TPMT\u2010deficiency alleles (<jats:italic>TPMT*2<\/jats:italic>,<jats:italic>TPMT*3A<\/jats:italic>,<jats:italic>TPMT*3B<\/jats:italic>,<jats:italic>TPMT*3C<\/jats:italic>,<jats:italic>TPMT*3D<\/jats:italic>,<jats:italic>TPMT*7<\/jats:italic>, and<jats:italic>TPMT*8<\/jats:italic>). We analyzed allele frequencies in the whole cohort, the childhood cancer group, and the non\u2010cancer group. We also characterized disease features and outcome according to the presence of<jats:italic>TPMT<\/jats:italic>SNPs in children with acute lymphoblastic leukemia (ALL).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Fifty\u2010five (5.5%) study participants overall had heterozygous<jats:italic>TPMT<\/jats:italic>genotypes (1 variant and 1 wild\u2010type allele):<jats:italic>TPMT*1\/*3A<\/jats:italic>(n\u2009=\u200945; 4.5%),<jats:italic>TPMT*1\/*3C<\/jats:italic>(n\u2009=\u20098; 0.8%), and<jats:italic>TPMT*1\/*2<\/jats:italic>(n\u2009=\u20092; 0.2%).<jats:italic>TPMT<\/jats:italic>SNPs were more frequent in children with hematologic malignancy than in other participants (7.5% vs. 4.0%,<jats:italic>P<\/jats:italic>\u2009=\u20090.02). We found no significant association between<jats:italic>TPMT<\/jats:italic>SNPs and ALL treatment outcome (median follow\u2010up, 31.3 months).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p><jats:italic>TPMT*3A<\/jats:italic>is the most prevalent variant allele in the Russian Federation. The estimated frequency of variant alleles in the study cohort (5.5%) was similar to that observed in the White populations in the U.S. and Eastern Europe. Pediatr Blood Cancer 2009;52:203\u2013208. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pbc.21837","type":"journal-article","created":{"date-parts":[[2008,11,25]],"date-time":"2008-11-25T15:58:12Z","timestamp":1227628692000},"page":"203-208","source":"Crossref","is-referenced-by-count":21,"title":["<i>TPMT<\/i>genetic variations in populations of the Russian Federation"],"prefix":"10.1002","volume":"52","author":[{"given":"Elena V.","family":"Samochatova","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia V.","family":"Chupova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anastassia","family":"Rudneva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga","family":"Makarova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatyana 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