Roy Moulik Nirmalya, Parveen Farah, Kumar Archana, Awasthi Shally, Agrawal Suraksha
Division of Pediatric Hematology-Oncology, Department of Pediatrics, King George's Medical University, Lucknow, India.
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.
J Hum Genet. 2014 Jul;59(7):397-404. doi: 10.1038/jhg.2014.44. Epub 2014 Jun 12.
Studies on the association of methylenetetrahydrofolate reductase (MTHFR) genotype in childhood acute lymphoblastic leukemia (ALL) have yielded conflicting results. The present study examines this association in north Indian children with ALL and includes an updated meta-analysis. MTHFR (677 and 1298) genotype of children with ALL and healthy adult controls were done by the PCR-restriction fragment length polymorphism (PCR-RFLP) method and were compared using various models of inheritance. A total of 150 patients and 300 controls were included. The 677T allele was found protective (odds ratio (OR) 0.21, 95% confidence interval (CI) 0.04-0.94), whereas 1298C allele led to an increase in risk (OR 4.44, 95% CI 2.19-8.99) of childhood ALL. Meta-analysis included 31 and 27 studies examining the association of 677 and 1298 genotypes, respectively. The 677 C -> T polymorphism was protective (OR 0.90, 95% CI 0.82-0.99). Protection was more pronounced in folate-sufficient populations as compared with those not covered by folate fortification guidelines. The 1298A->C polymorphism was associated with a marginal increase in risk (OR 1.19, 95% CI 1.01-1.40).
关于亚甲基四氢叶酸还原酶（MTHFR）基因分型与儿童急性淋巴细胞白血病（ALL）之间关联的研究结果相互矛盾。本研究对印度北部患ALL的儿童进行了此项关联研究，并纳入了一项更新的荟萃分析。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法对ALL患儿和健康成人对照的MTHFR（677和1298）基因分型进行检测，并使用各种遗传模型进行比较。共纳入150例患者和300例对照。发现677T等位基因具有保护作用（优势比（OR）0.21，95%置信区间（CI）0.04 - 0.94），而1298C等位基因会增加儿童ALL的发病风险（OR 4.44，95%CI 2.19 - 8.99）。荟萃分析分别纳入了31项和27项研究677和1298基因型关联的研究。677 C→T多态性具有保护作用（OR 0.90，95%CI 0.82 - 0.99）。与未遵循叶酸强化指南的人群相比，这种保护作用在叶酸充足的人群中更为明显。1298A→C多态性与发病风险的轻微增加相关（OR 1.19，95%CI 1.01 - 1.40）。
