title: Single nucleotide polymorphisms related to vitamin B12 serum levels in autoimmune gastritis patients with or without pernicious anaemia.
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.
  
  
  OBJECTIVE
  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).
  
  
  CONCLUSIONS
  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.
authors: Digestive and Liver Disease Unit, Department of Medical and Surgery Sciences and Translational Medicine, Sant'Andrea Hospital, Sapienza University Rome, Rome, Italy.
authors: Edith
authors: E
authors: Lahner
authors: Advanced Molecular Diagnostics Unit, Sant'Andrea Hospital, Rome, Italy.
authors: Giovanna
authors: G
authors: Gentile
authors: Digestive and Liver Disease Unit, Department of Medical and Surgery Sciences and Translational Medicine, Sant'Andrea Hospital, Sapienza University Rome, Rome, Italy.
authors: Flaminia
authors: F
authors: Purchiaroni
authors: Department of Pathology, Policlinico Umberto I, Medical School, Sapienza University Rome, Rome, Italy.
authors: Barbara
authors: B
authors: Mora
authors: 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.
authors: Maurizio
authors: M
authors: Simmaco
authors: 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.
authors: Bruno
authors: B
authors: Annibale
mesh_terms: D000752:Anemia, Pernicious / Q000097:blood / Q000150:complications* / Q000235:genetics; D001327:Autoimmune Diseases / Q000150:complications* / Q000235:genetics / Q000276:immunology; D004247:DNA / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D005757:Gastritis, Atrophic / Q000150:complications / Q000235:genetics* / Q000276:immunology; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012189:Retrospective Studies; D014805:Vitamin B 12 / Q000097:blood / Q000235:genetics*
chemical_list: D004247:DNA; D014805:Vitamin B 12
keywords: Autoimmune gastritis; Pernicious anaemia; Single nucleotide polymorphisms; Vitamin B(12)