[亚甲基四氢叶酸还原酶基因的C677T单核苷酸多态性与墨西哥女性乳腺癌]

[C677T-SNP of methylenetetrahydrofolate reductase gene and breast cancer in Mexican women].

作者信息

Calderón-Garcidueñas Ana Laura, Cerda-Flores Ricardo Martín, Castruita-Ávila Ana Lilia, González-Guerrero Juan Francisco, Barrera-Saldaña Hugo Alberto

机构信息

Instituto de Medicina Forense, Universidad Veracruzana, Boca del Río, Veracruz

出版信息

Rev Med Inst Mex Seguro Soc. 2017 Nov-Dec;55(6):720-724.

PMID:29190865

Abstract

BACKGROUND

Low-penetrance susceptibility genes such as 5,10-methylenetetrahydrofolate reductase gene (MTHFR) have been considered in the progression of breast cancer (BC). Cancer is a result of genetic, environmental and epigenetic interactions; therefore, these genes should be studied in environmental context, because the results can vary between populations and even within the same country. The objective was to analyze the allelic and genotypic frequencies of the MTHFR C667T SNP in Mexican Mestizo patients with BC and controls from Northeastern Mexico.

METHODS

243 patients and 118 healthy women were studied. The analysis of the polymorphism was performed with a DNA microarray. Once the frequency of the polymorphism was obtained, Hardy-Weinberg equilibrium test was carried out for the genotypes. Chi square test was used to compare the distribution of frequencies.

RESULTS

The allele frequency in patients was: C = 0.5406; T = 0.4594 and in controls C = 0.5678, T = 0.4322. Genotype in BC patients was: C / C = 29.9%, C / T = 48.3% and T / T = 21.8. The distribution in controls was: C / C = 31.4%, C / T = 50.8%, T / T = 17.8% (chi squared 0.77, p = 0.6801).

CONCLUSIONS

Northeastern Mexican women in this study showed no association between MTFHR C667T SNP and the risk of BC. It seems that the contribution of this polymorphism to BC in Mexico varies depending on various factors, both genetic and environmental.

摘要

背景

低 penetrance 易感性基因，如 5,10 - 亚甲基四氢叶酸还原酶基因（MTHFR），已被纳入乳腺癌（BC）进展的研究。癌症是基因、环境和表观遗传相互作用的结果；因此，这些基因应在环境背景下进行研究，因为不同人群甚至同一国家内的研究结果可能会有所不同。目的是分析墨西哥梅斯蒂索 BC 患者及墨西哥东北部对照人群中 MTHFR C667T 单核苷酸多态性的等位基因和基因型频率。

方法

对 243 例患者和 118 名健康女性进行研究。采用 DNA 微阵列分析多态性。获得多态性频率后，对基因型进行 Hardy - Weinberg 平衡检验。使用卡方检验比较频率分布。

结果

患者的等位基因频率为：C = 0.5406；T = 0.4594，对照人群中 C = 0.5678，T = 0.4322。BC 患者的基因型为：C/C = 29.9%，C/T = 48.3%，T/T = 21.8%。对照人群中的分布为：C/C = 31.4%，C/T = 50.8%，T/T = 17.8%（卡方值 0.77，p = 0.6801）。