Bahari Gholamreza, Hashemi Mohammad, Naderi Majid, Taheri Mohsen
Cellular and Molecular Research Center, Zahedan University of Medical Sciences, Zahedan, Iran; Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran.
Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran.
Int J Hematol Oncol Stem Cell Res. 2016 Jul 1;10(3):130-7.
The present study was aimed to examine the possible association between methylene tetrahydrofolate reductase (MTHFR) gene polymorphisms and childhood acute lymphoblastic leukemia (ALL) in a sample of Iranian population.
A total of 220 subjects including 100 children diagnosed with ALL and 120 healthy children participated in the case-control study. The single nucleotide polymorphisms (SNPs) of MTHFR were determined by ARMS-PCR or PCR-RFLP method.
Our investigation revealed that rs13306561 both TC and TC + CC genotypes decreased the risk of ALL compared to TT genotype (OR=0.32, 95%CI=0.15-0.68, p=0.002 and OR=0.35, 95%CI=0.17-0.70, p=0.003, respectively). In addition, the rs13306561 C allele decreased the risk of ALL in comparison with T allele (OR=0.42, 95% CI=0.22-0.78, P=0.005). MTHFR rs1801131 (A1298C) polymorphism showed that the AC heterozygous genotype decreased the risk of ALL in comparison with AA homozygous genotype (OR=0.43, 95%CI=0.21-0.90, p=0.037). Neither the overall Chi-square comparison of cases and control subjects (𝜒2=5.54, p=0.063) nor the logistic regression analysis showed significant association between C677T polymorphism and ALL (OR=1.25, 95% CI=0.69-2.23, p=0.552; CT vs. CC).
The current investigation findings showed that MTHFR rs1801131 and rs13306561 polymorphisms decreased the risk of ALL in the population which has been studied. Further studies with larger sample sizes and different ethnicities are required to validate our findings.
本研究旨在探讨伊朗人群样本中亚甲基四氢叶酸还原酶（MTHFR）基因多态性与儿童急性淋巴细胞白血病（ALL）之间可能存在的关联。
共有220名受试者参与了这项病例对照研究，其中包括100名被诊断为ALL的儿童和120名健康儿童。采用扩增阻滞突变系统聚合酶链反应（ARMS-PCR）或聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法测定MTHFR的单核苷酸多态性（SNP）。
我们的调查显示，与TT基因型相比，rs13306561的TC和TC + CC基因型均降低了ALL的发病风险（OR分别为0.32，95%CI为0.15 - 0.68，p = 0.002；OR为0.35，95%CI为0.17 - 0.70，p = 0.003）。此外，与T等位基因相比，rs13306561的C等位基因降低了ALL的发病风险（OR = 0.42，95%CI为0.22 - 0.78，P = 0.005）。MTHFR rs1801131（A1298C）多态性显示，与AA纯合基因型相比，AC杂合基因型降低了ALL的发病风险（OR = 0.43，95%CI为0.21 - 0.90，p = 0.037）。病例组与对照组的总体卡方检验（χ2 = 5.54，p = 0.063）以及逻辑回归分析均未显示C677T多态性与ALL之间存在显著关联（OR = 1.25，95%CI为0.69 - 2.23，p = 0.552；CT与CC相比）。
目前的调查结果表明，MTHFR rs1801131和rs13306561多态性降低了所研究人群中ALL的发病风险。需要进行更大样本量和不同种族的进一步研究来验证我们的发现。
