摘要
目的探讨亚甲基四氢叶酸还原酶（MTHFR）基因单核甘酸多态性与儿童急性淋巴细胞白血病（ALL）发病风险的关系。方法分别收集45例ALL患儿（ALL组）及45名健康儿童（对照组）外周血各2ml，提取基因组DNA，应用聚合酶链反应一限制性片段长度多态性（PCR—RFLP）法，检测MTHFRC677T和A1298C基因型，比较不同基因型对儿童ALL发病风险的影响。采用Logistic回归模型计算比值比（OR）和95％可信区间（95％CI）。结果对照组MTHFR677CC、CT和TT基因型分布频率分别为31．1％（14／45）、51．1％（23／45）和17．7％（8／45），ALL组3种基因型分布频率分别为51．1％（23／45）、40．0％（18／45）和8．9％（4／45），两者比较差异有统计学意义（X2=7．48，P=0．04）；MTHFR677T等位基因在ALL组中的检出率为48．8％（22／45），在对照组中的检出率为69．9％（31／45）；T等位基因携带者发生ALIJ的风险是CC基因型的0．4倍（95％CI 0．21～0．83）。对照组MTHFR1298AA、AC和CC基因型分布频率分别为57．8％、40．0％和2．2％，ALL组3种基因型分布频率分别为18．8％、44．4％和6．8％，两者比较差异无统计学意义（X2=11．23，P=0．23）；MTHFR1298C等位基因在ALL组中的检出率为42-2％（19／45），在对照组中的检出率为51．1％（23／45）；C等位基因的存在并不会提高儿童发生ALL的风险（OR=1．3，95％C10．21～0．83）。结论MTHFR677T等位基因的存在会显著降低儿童发生ALL的风险，而MTHFR1298各基因型与儿童ALL的发生均无明显相关性。
Objective To investigate the relationship between genetic polymorphism of methylenetetrahydrofolate reductase （MTHFR） and the risk of childhood acute lymphocytic leukemia （ALL）. Methods 45 patients with ALL and a cohort of 45 matched healthy children were included, and DNA was extracted from their peripheral blood. PCR-RFLP was used to determine the genotypes of MTHFR C677T and At298C. The adjusted odds tatio （OR） and 95 % confidence interwal （C/） were calculated using unconditional logistic regression model. Results The frequency of MTHFR 677 CC, CT and TF genetypes were 31.1% （14/45）, 51.1% （23/45） and 17.7 % （8/45） in controls and 51.1% （23/45）, 40.0 % （18/45） and 8.9 % （4/45） in ALL, respectively （X2 = 7.48, P = 0.04）. The frequency of MTHFR 677 T allele were 69.9 % （31/45） in controls and 48.8 % （22/45） in ALL. The MTHFR 677 T allele had an decreased risk in ALL compared with CC genety]ae （OR = 0.4, 95 % CI 0.21-0.83）. The frequency of MTHFR 1298 AA, AC and CC genetypes were 57.8 %, 40.0 % and 2.2 % in controls and 18.8 %, 44.4 % and 6.8 % in ALL respectively （X2 = 11.23, P= 0.23）. The frequency of MTHFR 1298 C allele were 51.1% （23/45） in controls and 42.2 % （19/45） in ALL. No significant association between the MTHFR 1298 polymorphism and the risk of ALL （OR = 1.3, 95 % CI 0.21-0.83）. Conclusion MTHFR 677 polymorphism could significantly decrease the risk of developing childhood ALL, whereas MTHFR 1298 don＂ t significantly affect the risk of ALL.
出处
《白血病．淋巴瘤》
CAS
2012年第12期736-738,共3页
Journal of Leukemia & Lymphoma
关键词
白血病
淋巴细胞
急性
亚甲基四氢叶酸还原酶
多态性
单核苷酸
Leukemia, lymphocytic, acute
Methylenetetrahydrofolate reductase
Polymo^33hisms, single nucleotide
