叶酸代谢途径中的多态性与儿童急性白血病发生风险
Polymorphisms involved in folate metabolism pathways and the risk of the development of childhood acute leukemia.
作者信息
Silva Rafaela Maria Seabra, Fontes Alide Caroline Lima, Silva Karina Alves, Sant'Ana Thalita Araújo, Ramos Flávio José da Costa, Marques-Salles Terezinha de Jesus, Pombo-de-Oliveira Maria S, Muniz Maria Tereza Cartaxo
机构信息
Departamento de Genética, Universidade Federal de Pernambuco, Recife, Brazil.
出版信息
Genet Test Mol Biomarkers. 2013 Feb;17(2):147-52. doi: 10.1089/gtmb.2012.0174.
OBJECTIVE
Polymorphisms that reduce the activity of reduced folate carrier (RFC) and methylenetetrahydrofolate reductase (MTHFR) and double (2R2R) or triple (3R3R) 28-bp tandem repeats in the promoter region of thymidylate synthase (TS) have been associated with the risk of childhood acute leukemia (AL). A case-control genotyping study was conducted in Brazilian children with the aim of investigating RFC, MTHFR, and TS polymorphisms as risk factors.
METHODS
The polymerase chain reaction-restriction fragment length polymorphism method was employed in 177 AL cases and 390 controls.
RESULTS
The presence of the mutant 1298C, also RFC 80A, was linked to a decreased risk of developing acute lymphoid leukemia (ALL) (odds ratio (OR)=0.46, 95% confidence interval (CI)=0.30-071 and OR=0.51, 95% CI=0.28-0.0.93, respectively).
CONCLUSIONS
The genotype 677 CT was associated with increased risk of developing ALL (OR=1.6, 95% CI=1.1-2.7). Further epidemiological study is needed to unravel the role of complex multiple gene-environment interactions in leukemogenesis.
目的
降低还原型叶酸载体（RFC）和亚甲基四氢叶酸还原酶（MTHFR）活性的多态性，以及胸苷酸合成酶（TS）启动子区域的双（2R2R）或三（3R3R）28碱基对串联重复序列，已被证实与儿童急性白血病（AL）的发病风险相关。本研究在巴西儿童中开展了一项病例对照基因分型研究，旨在探究RFC、MTHFR和TS基因多态性作为危险因素的情况。
方法
对177例AL患儿和390例对照采用聚合酶链反应-限制性片段长度多态性方法。
结果
突变型1298C（即RFC 80A）的存在与急性淋巴细胞白血病（ALL）发病风险降低相关（比值比（OR）分别为0.46，95%置信区间（CI）=0.30 - 0.71；OR = 0.51，95% CI = 0.28 - 0.93）。
结论
基因型677 CT与ALL发病风险增加相关（OR = 1.6，95% CI = 1.1 - 2.7）。需要进一步开展流行病学研究，以阐明复杂的多基因-环境相互作用在白血病发生中的作用。
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