An update on vitamin B12-related gene polymorphisms and B12 status

Surendran, S., Adaikalakoteswari, A. ORCID: 0000-0003-2974-3388, Saravanan, P., Shatwaan, I.A., Lovegrove, J.A. and Vimaleswaran, K.S., 2018. An update on vitamin B12-related gene polymorphisms and B12 status. Genes & Nutrition, 13: 2. ISSN 1555-8932

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Background: Vitamin B12 is an essential micronutrient in humans needed for health maintenance. Deficiency of vitamin B12 has been linked to dietary, environmental and genetic factors. Evidence for the genetic basis of vitamin B12 status is poorly understood. However, advancements in genomic techniques have increased the knowledge-base of the genetics of vitamin B12 status. Based on the candidate gene and genome-wide association (GWA) studies, associations between genetic loci in several genes involved in vitamin B12 metabolism have been identified.

Objective: The objective of this literature review was to identify and discuss reports of associations between single-nucleotide polymorphisms (SNPs) in vitamin B12 pathway genes and their influence on the circulating levels of vitamin B12.

Methods: Relevant articles were obtained through a literature search on PubMed through to May 2017. An article was included if it examined an association of a SNP with serum or plasma vitamin B12 concentration. Beta coefficients and odds ratios were used to describe the strength of an association, and a P < 0.05 was considered as statistically significant. Two reviewers independently evaluated the eligibility for the inclusion criteria and extracted the data.

Results: From 23 studies which fulfilled the selection criteria, 16 studies identified SNPs that showed statistically significant associations with vitamin B12 concentrations. Fifty-nine vitamin B12-related gene polymorphisms associated with vitamin B12 status were identified in total, from the following populations: African American, Brazilian, Canadian, Chinese, Danish, English, European ancestry, Icelandic, Indian, Italian, Latino, Northern Irish, Portuguese and residents of the USA.

Conclusion: Overall, the data analyzed suggests that ethnic-specific associations are involved in the genetic determination of vitamin B12 concentrations. However, despite recent success in genetic studies, the majority of identified genes that could explain variation in vitamin B12 concentrations were from Caucasian populations. Further research utilizing larger sample sizes of non-Caucasian populations is necessary in order to better understand these ethnic-specific associations.

Item Type: Journal article
Publication Title: Genes & Nutrition
Creators: Surendran, S., Adaikalakoteswari, A., Saravanan, P., Shatwaan, I.A., Lovegrove, J.A. and Vimaleswaran, K.S.
Publisher: BioMed Central
Date: 2018
Volume: 13
ISSN: 1555-8932
Rights: © The Author(s). 2018. Open Access - This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (, which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated.
Divisions: Schools > School of Science and Technology
Record created by: Linda Sullivan
Date Added: 29 Mar 2018 08:12
Last Modified: 29 Mar 2018 08:12

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