Amorim Marcia R, Zanrosso Crisiane Wais, Magalhães Isis Q, Pereira Simone C, Figueiredo Alexandre, Emerenciano Mariana, Pinheiro Vitoria Regia, d'Andréa Maria Lydia, Orioli Ieda M, Koifman Sergio, Pombo-de-Oliveira Maria S
Pediatric Hematology-Oncology Program, Instituto Nacional de Cancer, Rio de Janeiro, Brazil.
Pediatr Hematol Oncol. 2008 Dec;25(8):744-50. doi: 10.1080/08880010802435104.
Down syndrome (DS) is an important risk factor associated with acute leukemia (AL). The presence of polymorphisms that reduce 5,10-methylenetetrahydrofolate reductase (MTHFR) activity has been linked to the multifactorial leukemogenic process. The authors have conducted a study to test whether 677C-->T and/or 1298A-->C polymorphisms of MTHFR would play an additional role in susceptibility of acute myeloid leukemia (AML) in DS children. They also verified whether any polymorphism in the MTHFR gene was associated with the risk of DS. Genetic polymorphisms determination was carried out in 248 samples from healthy individuals as controls and a total of 115 DS children (65 without leukemia and 50 with AML). The present study failed to reveal any association between these polymorphisms and risk of AML in DS children. The data also indicate that MTHFR polymorphisms are not associated with risk of being a DS child.
唐氏综合征（DS）是与急性白血病（AL）相关的一个重要风险因素。降低5,10-亚甲基四氢叶酸还原酶（MTHFR）活性的多态性的存在与多因素白血病发生过程有关。作者进行了一项研究，以测试MTHFR的677C→T和/或1298A→C多态性是否会在DS儿童急性髓系白血病（AML）易感性中发挥额外作用。他们还验证了MTHFR基因中的任何多态性是否与DS风险相关。对来自健康个体作为对照的248个样本以及总共115名DS儿童（65名无白血病和50名患有AML）进行了基因多态性测定。本研究未能揭示这些多态性与DS儿童AML风险之间的任何关联。数据还表明，MTHFR多态性与成为DS儿童的风险无关。
