Single nucleotide polymorphisms related to vitamin B12 serum levels in autoimmune gastritis patients with or without pernicious anaemia

Edith Lahner; Giovanna Gentile; Flaminia Purchiaroni; Barbara Mora; Maurizio Simmaco; Bruno Annibale

doi:10.1016/j.dld.2015.01.147

Single nucleotide polymorphisms related to vitamin B12 serum levels in autoimmune gastritis patients with or without pernicious anaemia

Dig Liver Dis. 2015 Apr;47(4):285-90. doi: 10.1016/j.dld.2015.01.147. Epub 2015 Jan 22.

Authors

Edith Lahner¹, Giovanna Gentile², Flaminia Purchiaroni¹, Barbara Mora³, Maurizio Simmaco⁴, Bruno Annibale⁵

Affiliations

¹ Digestive and Liver Disease Unit, Department of Medical and Surgery Sciences and Translational Medicine, Sant'Andrea Hospital, Sapienza University Rome, Rome, Italy.
² Advanced Molecular Diagnostics Unit, Sant'Andrea Hospital, Rome, Italy.
³ Department of Pathology, Policlinico Umberto I, Medical School, Sapienza University Rome, Rome, Italy.
⁴ Advanced Molecular Diagnostics Unit, Sant'Andrea Hospital, Rome, Italy; Department of Neuroscience, Mental Health and Sense Organs, Faculty of Medicine and Psychology, Sapienza University Rome, Rome, Italy.
⁵ Digestive and Liver Disease Unit, Department of Medical and Surgery Sciences and Translational Medicine, Sant'Andrea Hospital, Sapienza University Rome, Rome, Italy. Electronic address: bruno.annibale@uniroma1.it.

PMID: 25681243
DOI: 10.1016/j.dld.2015.01.147

Abstract

Background: Autoimmune gastritis may present as pernicious anaemia arising from vitamin B12 malabsorption, but also with iron deficiency anaemia due to iron malabsorption. These different clinical presentations might have a genetic basis. Single nucleotide polymorphisms associated with vitamin B12 levels have not been investigated in autoimmune gastritis.

Aims: To determine the frequency of single nucleotide polymorphisms related to vitamin B12 levels in autoimmune gastritis patients, with or without pernicious anaemia, compared to healthy controls.

Methods: 14 single nucleotide polymorphisms associated with vitamin B12 levels were selected from literature. 83 autoimmune gastritis patients (43 with and 40 without pernicious anaemia) and 173 controls were enrolled. Genomic DNA was extracted from peripheral blood leukocytes. Genotyping was performed using Sequenom MALDI-TOF mass spectrometry iPLEX platform.

Results: TCN2 (rs9606756) GG genotype, related with lower vitamin B12 levels, was found in 3 (3.6%) autoimmune gastritis patients (2 with pernicious anaemia), but in none of controls (p = 0.02). FUT6 (rs3760776) AA genotype was present in four (4.8%) autoimmune gastritis patients (all pernicious anaemia) and three (1.7%) controls (p = 0.007).

Conclusion: A genetic variant of TCN2 (rs9606756) related to lower vitamin B12 levels was more frequent in pernicious anaemia patients compared to controls, showing the plausibility of genetic factors determining the possible clinical manifestation of autoimmune gastritis.

Keywords: Autoimmune gastritis; Pernicious anaemia; Single nucleotide polymorphisms; Vitamin B(12).

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Anemia, Pernicious / blood
Anemia, Pernicious / complications*
Anemia, Pernicious / genetics
Autoimmune Diseases / complications*
Autoimmune Diseases / genetics
Autoimmune Diseases / immunology
DNA / genetics*
Female
Follow-Up Studies
Gastritis, Atrophic / complications
Gastritis, Atrophic / genetics*
Gastritis, Atrophic / immunology
Genotype
Humans
Male
Middle Aged
Polymorphism, Single Nucleotide*
Retrospective Studies
Vitamin B 12 / blood
Vitamin B 12 / genetics*

Substances

DNA
Vitamin B 12