亚甲基四氢叶酸还原酶基因多态性与慢性髓性白血病的关联

[Association between methylene-tetrahydrofolate reductase gene polymorphisms and chronic myeloid leukemia].

作者信息

Dorgham Samia, Aberkane Meriem, Boughrara Wefa, Antar Soltan Badra, Mehalhal Nemra, Touhami Hadj, Sidimansour Noureddine, Merad Boudia Nadia, Louhibi Lotfi, Boudjema Abdallah

机构信息

Université des sciences et de la technologie d'Oran, Mohamed-Boudiaf (USTO-MB), Laboratoire de génétique moléculaire et cellulaire, BO 1505 El-Mnaouer, 31000 Oran, Algérie.

Université des sciences et de la technologie d'Oran, Mohamed-Boudiaf (USTO-MB), Laboratoire de génétique moléculaire et cellulaire, BO 1505 El-Mnaouer, 31000 Oran, Algérie, Établissement hospitalier universitaire d'Oran, Service de biologie moléculaire et cytogénétique, Oran, Algérie.

出版信息

Bull Cancer. 2014 Sep;101(9):803-7. doi: 10.1684/bdc.2014.1953.

DOI:10.1684/bdc.2014.1953

PMID:25036376

Abstract

Methylene-tetrahydrofolate reductase (MTHFR) is a key enzyme of folate metabolism. Few studies were reported about its relationship with chronic myeloid leukemia (CML). We conducted a case-control study analyzing the prevalence of the polymorphisms MTHFR C677T and MTHFR A1298C in Algerians CML patients. Using TaqMan(®) allelic discrimination assay, we investigate MTHFR C677T and A1298C polymorphism distribution in 90 cases of CML and 100 healthy subjects. The frequencies of 677T alleles and genotypes 677TT and 677CT were significantly higher in cases than in control (P = 1E-6; OR = 6.77 [4.22-10.86]) and (P = 1E-6; OR = 10.38 [4.56-23.6]) respectively. Also, the frequencies of 1298C alleles and genotypes 1298CC and 1298AC were higher in cases (P = 9 E-6; OR = 2.65 [1.71-4.10]) and (P = 0.008; OR = 2.22 [1.21-4.06]) respectively. We report also the higher significance of the haplotype 677T/1298A and 677T/1298C in cases (P = 0.007; OR = 2.57 [1.26-5.24]) and (P = 5 E-6, OR = 6.91 [2.7646-17.2899]) respectively. Our results demonstrate that 677T and 1298C alleles are both associated with an increased risk of CML in Algeria.

摘要

亚甲基四氢叶酸还原酶（MTHFR）是叶酸代谢的关键酶。关于其与慢性髓性白血病（CML）关系的研究报道较少。我们开展了一项病例对照研究，分析阿尔及利亚CML患者中MTHFR C677T和MTHFR A1298C多态性的患病率。使用TaqMan®等位基因鉴别分析，我们调查了90例CML患者和100名健康受试者中MTHFR C677T和A1298C多态性分布。病例组中677T等位基因以及677TT和677CT基因型的频率显著高于对照组（P = 1E - 6；OR = 6.77 [4.22 - 10.86]）和（P = 1E - 6；OR = 10.38 [4.56 - 23.6]）。同样，病例组中1298C等位基因以及1298CC和1298AC基因型的频率也更高（P = 9E - 6；OR = 2.65 [1.71 - 4.10]）和（P = 0.008；OR = 2.22 [1.21 - 4.06]）。我们还报告了病例组中677T/1298A和677T/1298C单倍型的更高显著性（P = 0.007；OR = 2.57 [1.26 - 5.24]）和（P = 5E - 6，OR = 6.91 [2.7646 - 17.2899]）。我们的结果表明，在阿尔及利亚，677T和1298C等位基因均与CML风险增加相关。