巴西儿童中MTHFR A1298C基因多态性与急性髓系白血病风险增加之间的关联。
Association between the MTHFR A1298C polymorphism and increased risk of acute myeloid leukemia in Brazilian children.
作者信息
da Costa Ramos Flavio Jose, Cartaxo Muniz Maria Tereza, Silva Vanessa Cavalcante, Araújo Marcela, Leite Ednalva Pereira, Freitas Elizabete Malaquias, Zanrosso Crisiane Wais, Hatagima Ana, de Mello Maricilda Palandi, Yunes Jose Andrés, Marques-Salles Terezinha de Jesus, Santos Neide, Brandalise Silvia R, Pombo-De-Oliveira Maria S
机构信息
Departamento de Genética, Universidade Federal de Pernambuco, Recife, Pernambuco, Brazil.
出版信息
Leuk Lymphoma. 2006 Oct;47(10):2070-5. doi: 10.1080/10428190600800132.
Methylenetetrahydrofolate reductase (MTHFR) is an essential enzyme in the metabolism of folate. The presence of polymorphisms that reduce the activity of MTHFR has been linked to the multifactor process of development of acute leukemia. A case control study was conducted on Brazilian children in different regions of the country with the aim of investigating the role of MTHFR C677T and A1298C polymorphisms as risk factors in the development of acute myeloid leukemia (AML). We used the polymerase chain reaction restriction fragment length polymorphism method to genotyping 182 AML and 315 healthy individuals. The genotype 677 CT was associated with decreased risk [odds ratio (OR), 0.37; confidence interval (CI) 95%, 0.14 - 0.92], whereas 1298 AC genotype was linked with an increased risk [OR, 2.90; CI 95%, 1.26 - 6.71] of developing AML in non-white children. Further epidemiological study is needed to unravel the complex multiple gene-environment interactions in the role of the AML leukemogenesis.
亚甲基四氢叶酸还原酶（MTHFR）是叶酸代谢中的一种关键酶。降低MTHFR活性的多态性的存在与急性白血病发生的多因素过程有关。对巴西不同地区的儿童进行了一项病例对照研究，目的是调查MTHFR C677T和A1298C多态性作为急性髓系白血病（AML）发生风险因素的作用。我们采用聚合酶链反应限制性片段长度多态性方法对182例AML患者和315名健康个体进行基因分型。677 CT基因型与风险降低相关[比值比（OR），0.37；95%置信区间（CI），0.14 - 0.92]，而1298 AC基因型与非白人儿童发生AML的风险增加相关[OR，2.90；CI 95%，1.26 - 6.71]。需要进一步的流行病学研究来阐明AML白血病发生过程中复杂的多基因-环境相互作用。
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