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

Overview

Journal J Med Biochem

Specialty Biochemistry

Date 2018 Dec 25

PMID 30581350

Citations 13

Authors

Khalid M Al-Batayneh

Mazhar Salim Al Zoubi

Murad Shehab

Bahaa Al-Trad

Khaldon Bodoor

Wesam Al Khateeb

Alaa A A Aljabali

Mohammad Al Hamad

Greg Eaton

Affiliations

Soon will be listed here.

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.

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