Faculty Opinions recommendation of MTHFR polymorphisms involved in vitamin B12 deficiency associated with atrophic gastritis.

Author(s):  
Pelayo Correa
2009 ◽  
Vol 47 (9-10) ◽  
pp. 645-650 ◽  
Author(s):  
Mariangela Palladino ◽  
Patrizia Chiusolo ◽  
Giovanni Reddiconto ◽  
Sara Marietti ◽  
Daniela De Ritis ◽  
...  

2022 ◽  
Vol 19 ◽  
pp. 10-13
Author(s):  
Mazhar Salim Al Zoubi

Vitamin B12 deficiency is associated with serious health problems such as neurological disorders. In Jordan, few studies have evaluated the level of vitamin B21 in the Jordanian population with different prevalence. Genetic predisposition, lifestyle, environment, socioeconomic status, and geographic have been linked to vitamin B12 deficiency. Polymorphisms in the GIF, MTHFR, and Transcobalamins, have been proposed to be associated with the level of vitamin B12. The aim of the current study was to evaluate the impact of certain polymorphisms in MTHFR, TCN-II and GIF genes on the level of vitamin B12 in the Jordanian population. Polymorphic sites of the MTHFR (c.677 C>T, rs1801133 and c.1286A>C, rs1801131), TCN2-776C>G (Arg259Pro) (rs1801198) and GIF-68 A>G (Q5R) genes were analyzed by RFLP and DNA sequencing in a group of vitamin B12 deficient individuals (n = 100). The control group included 100 matching individuals with a normal level of vitamin B12 (>200 ng/mL). Our results showed a significant association between the homologous variant of the TCN2 gene (G776G) and MTHFR c.677C>T genes and vitamin B12 deficiency. On the other hand, The MTHFR c.1286A>C variant and GIF variants did not show significant association with vitamin B12 deficiency. This study expounds the association of TCN2 and MTHFR polymorphisms with cobalamin levels in a Jordanian population and highlights the necessity of further studies to elucidate the molecular basis and impact of TCN2, GIF, and MTHFR gene polymorphisms on vitamin B12 deficiency and associated disorders.


Author(s):  
Amanda Guariento Muniz Marques ◽  
Menandro Cardoso Abreu ◽  
Joao Batista Macedo Vianna ◽  
Lucas Porto Ferreira ◽  
Sarah Paranhos Campos ◽  
...  

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Amanda M. Woodford ◽  
Rabhea Chaudhry ◽  
Gabriella A. Conte ◽  
Varsha Gupta ◽  
Madhurima Anne

Vitamin B12 is an essential nutrient which plays an important role in neurological function, hematopoiesis, and DNA synthesis. Low levels usually stem from either poor intake or a malabsorptive process. Presently, the most common cause of vitamin B12 deficiency is food-bound cobalamin malabsorption, which occurs when there is impaired release of vitamin B12 from ingested food due to an outstanding factor preventing the release of the nutrient from its transport protein. Such causes include achlorhydria, gastritis, gastrectomy, or the use of PPIs or antacids. A rarer cause is autoimmune chronic atrophic gastritis, resulting in pernicious anemia. In this disease process, there is destruction of parietal cells and thus a reduction in intrinsic factor, which is essential to the absorption of vitamin B12. Deficiency will result in a variety of abnormalities including but not limited to pancytopenia, paresthesias, and neuropsychiatric symptoms. A rare manifestation of vitamin B12 deficiency is hemolytic anemia, which occurs due to intramedullary and extramedullary dysfunction. This case describes a 46-year-old male with no past medical history who presented with chest pain, fatigue, and progressive weakness, found to have hemolytic anemia, ultimately attributed to vitamin B12 deficiency. Antiparietal cell antibodies and intrinsic factor antibodies (IFA) were both negative. Still, the patient underwent an endoscopy with biopsies of the stomach; pathology was consistent with chronic metaplastic atrophic gastritis. The patient improved with intramuscular vitamin B12 supplementation. This case highlights both a rare cause and presentation of vitamin B12 deficiency. Patients with autoimmune chronic atrophic gastritis should have antiparietal cell or intrinsic factor antibodies. Still, seronegative patients have been reported, like this patient. Additionally, hemolytic anemia secondary to vitamin B12 deficiency is uncommon. The presentation will usually mirror that of a thrombotic microangiopathy (TMA), including hemolytic anemia with schistocytes on peripheral blood smear and thrombocytopenia, as it did in this patient. This clinical entity is described as pseudothrombotic microangiopathy and is crucial to identify in order to prevent the initiation of invasive treatment strategies such as plasmapheresis.


2017 ◽  
Vol 8 (4) ◽  
pp. 16-20 ◽  
Author(s):  
K. Ravi ◽  
Jacob Joseph ◽  
David Mathew Thomas

Background: Vitamin B12 deficiency is a common, often overlooked medical problem in adult  population. Diagnosis of vitamin B12 deficiency is incomplete without the evaluation of underlying cause. In majority of the cases Vitamin B12 deficiency is attributed to malnutrition. H. pylori infection plays an important role in the development of atrophic gastritis and related malabsorption. Hence it is suggested that there may be a relationship between h. pylori infection and vitamin B12 deficiency.Aims and Objective: To evaluate correlation of helicobacter pylori infection and blood levels of vitamin B12.Materials and Methods: A total of 120 patients with deficient serum vitamin B12 levels were evaluated. Upper GI Endoscopy was performed and gastric biopsies were obtained for Histopathological examination and histological evidence of H. pylori infection.Results: Tissue biopsy revealed chronic atrophic gastritis in 65 patients and chronic antral gastritis in 39 patients. H. pylori infection by histology was positive in 68 patients. There was significant correlation between atrophic gastritis and H. pylori as well as between H. pylori and B12 deficiency.Conclusion: H.pylori has an effect on gastric mucosa, which influences the absorption of vitamin B12. Thus individuals with B12 deficiency must be subjected for diagnostic evaluation of H.pylori infection and appropriate therapy must be initiatedAsian Journal of Medical Sciences Vol.8(4) 2017 16-20


2018 ◽  
Vol 37 (2) ◽  
pp. 141-147 ◽  
Author(s):  
Khalid M. Al-Batayneh ◽  
Mazhar Salim Al Zoubi ◽  
Murad Shehab ◽  
Bahaa Al-Trad ◽  
Khaldon Bodoor ◽  
...  

SummaryBackground: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 (X2= 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.


2015 ◽  
Vol 15 (3) ◽  
pp. e420-423 ◽  
Author(s):  
Kawther El-Shafie ◽  
Nafisa Samir ◽  
Ritu Lakhtakia ◽  
Robin Davidson ◽  
Ahmed Al-Waili ◽  
...  

Author(s):  
R. Aine ◽  
E. Kahar ◽  
K. Aitokari ◽  
J. Salminen ◽  
C. Eklund ◽  
...  

Objective: Atrophic gastritis (AG) is associated with severe clinical sequels, including malabsorption of vitamin-B12, calcium, iron, magnesium, and zinc, with potential to develop irreversible neurological complications (e.g. dementia). To assess the prevalence of AG and its clinical sequels by serum biomarker testing and B12-vitamin measurement in elderly people in Estonia and Finland. Methods: In total, 209 residents of assisted-housing facilities (mean age 82 years) were screened by GastroPanel (Biohit Oyj, Finland) and active B12-vitamin test, the results linked with their medical history. Results: Study subjects in Tampere (n=106) and Tartu (n=103) differed in many characteristics of their medical history, including previously diagnosed B12-vitamin deficiency (p=0.006). Data requested for GastroPanel testing disclosed significantly less use of PPI medication and B12-vitamin supplementation in Tartu (p=0.0001). GastroPanel diagnostic profile (5 categories) was significantly different (p=0.0001), most markedly the HP-prevalence (all cases) (52.4%% vs 24.5%). AG in Finland (12.3%) and Estonia (15.6%) was not different (p=0.494), but manifest B12-vitamin deficiency was more common in Tartu (23.3% vs. 3.8%)(p=0.0001). Of all known complications of AG, only i) the diagnosed vitamin B12 deficiency (OR=3.5), and ii) diagnosed pernicious anaemia (OR=9.4) were significantly associated with AG. Conclusions: In Estonia, the majority (92%) of B12-vitamin deficient cases remained undiagnosed as compared to Finland (23.5%). To prevent irreversible complications, early diagnosis and adequate supplementation of vitamin B12 deficiency is essential. This is best done by detecting the subjects at risk (AG patients) by targeted GastroPanel screening, even years before the development of protean clinical manifestations.


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