Department of Pharmacy, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, 1678 Dongfang Road, Pudong, Shanghai 200127, China.
Eur J Med Res. 2014 Jan 29;19(1):5. doi: 10.1186/2047-783X-19-5.
The aim of this study was to investigate the relationship between the polymorphisms of the methylenetetrahytrofolate reductase (MTHFR) gene and susceptibility to childhood acute lymphoblastic leukemia (ALL).
A case-control study was conducted among 98 children with ALL and 93 age- and sex- matched non-ALL controls. Genotyping of MTHFR C677T and A1298C polymorphisms was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The odds ratios (ORs) of MTHFR genotypes were used to assess the associations of these polymorphisms with childhood ALL susceptibility.
No significant differences were observed for frequencies of the 677CC, 677CT and 677TT genotypes between patients and controls. Frequencies of the 1298AA, 1298 AC and 1298CC genotypes between the two groups were significantly different. The risk of ALL with the 1298C allele carriers (AC + CC) was elevated by 1.1 times compared with the AA genotype [OR = 2.100; 95% CI (1.149; 3.837); P = 0.015].
The MTHFR A1298C polymorphism is associated with susceptibility to childhood ALL in the Chinese population.
本研究旨在探讨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）易感性的关系。
采用病例对照研究，纳入 98 例 ALL 患儿和 93 例年龄和性别匹配的非 ALL 对照。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法检测 MTHFR C677T 和 A1298C 多态性。采用比值比（OR）评估 MTHFR 基因型与儿童 ALL 易感性的关系。
病例组和对照组之间 677CC、677CT 和 677TT 基因型的频率无显著差异。两组之间 1298AA、1298AC 和 1298CC 基因型的频率存在显著差异。与 AA 基因型相比，携带 1298C 等位基因（AC+CC）的 ALL 发病风险增加了 1.1 倍[OR=2.100；95%可信区间（1.149；3.837）；P=0.015]。
MTHFR A1298C 多态性与中国人群儿童 ALL 的易感性相关。
