亚甲基四氢叶酸还原酶（MTHFR）677C>T多态性与维生素B12缺乏之间的关联：一项病例对照研究。

Association between MTHFR 677C>T Polymorphism and Vitamin B12 Deficiency: A Case-control Study.

作者信息

Al-Batayneh Khalid M, Zoubi Mazhar Salim Al, Shehab Murad, Al-Trad Bahaa, Bodoor Khaldon, Khateeb Wesam Al, Aljabali Alaa A A, Hamad Mohammad Al, Eaton Greg

机构信息

Department of Biological Sciences, Faculty of Science, Yarmouk University, Irbid, Jordan.

Department of Basic Medical Sciences, Faculty of Medicine, Yarmouk University, Irbid, Jordan.

出版信息

J Med Biochem. 2018 Apr 1;37(2):141-147. doi: 10.1515/jomb-2017-0051. eCollection 2018 Apr.

DOI:10.1515/jomb-2017-0051

PMID:30581350

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6294092/

Abstract

BACKGROUND

Vitamin B12 (cobalamin) deficiency is a prevalent worldwide health concern. Several factors are associated with vitamin B12 deficiency including lifestyle, genetic predisposition, and malfunctions in the absorption and transport of vitamin B12. In the current case-control study, we aimed at investigating the association between MTHFR polymorphisms and vitamin B12 deficiency in a Jordanian population.

METHODS

Two polymorphic sites of the MTHFR gene (c.677C>T, rs1801133 and c.1286A>C, rs1801131) were analyzed using RFLP and DNA sequencing in a group of vitamin B12 deficient individuals (45 males and 55 females). As a control, 100 matching individuals (age and sex) with vitamin B12 levels > 200 ng/mL were also recruited for this study.

RESULTS

The MTHFR c.677C>T variant was significantly associated with vitamin B12 deficiency in individuals from northern Jordan. The frequency of the homozygous MTHFR c.677C>T genotype was significantly higher in B12 deficient individuals in comparison with the control group (X = 8.397, p = 0.0150). The T allele frequency showed significant association with vitamin B12 deficiency in the study population (OR= 1.684, 95% CI: 1.116 to 2.542, p = 0.017). On the other hand, the MTHFR c.1286A>C variant did not show significant association with vitamin B12 deficiency in the selected population.

CONCLUSIONS

Our results showed a significant association between homozygous MTHFR c.677C>T variant and T allele frequencies and vitamin B12 deficiency in the Jordanian population.

摘要

背景

维生素B12（钴胺素）缺乏是一个全球普遍关注的健康问题。多种因素与维生素B12缺乏有关，包括生活方式、遗传易感性以及维生素B12吸收和运输功能障碍。在当前的病例对照研究中，我们旨在调查约旦人群中甲基四氢叶酸还原酶（MTHFR）基因多态性与维生素B12缺乏之间的关联。

方法

采用限制性片段长度多态性（RFLP）和DNA测序技术，对一组维生素B12缺乏个体（45名男性和55名女性）的MTHFR基因的两个多态性位点（c.677C>T，rs1801133和c.1286A>C，rs1801131）进行分析。作为对照，本研究还招募了100名年龄和性别匹配、维生素B12水平>200 ng/mL的个体。

结果

MTHFR c.677C>T变异与约旦北部个体的维生素B12缺乏显著相关。与对照组相比，维生素B12缺乏个体中MTHFR c.677C>T纯合基因型的频率显著更高（X = 8.397，p = 0.0150）。在研究人群中，T等位基因频率与维生素B12缺乏显著相关（OR= 1.684，95%可信区间：1.116至2.542，p = 0.017）。另一方面，MTHFR c.1286A>C变异在所选人群中与维生素B12缺乏无显著关联。