Evidence map›Paper›PMID 41175296›Full record

ArticleIrish journal of medical science2025

Influence of Transcobalamin II (TCN2) and its receptor (CD320) gene polymorphisms on circulating TCN2 and CD320 levels in individuals with vitamin B12 deficiency.

Nurten Bahtiyar, Buket Kucuk Ataman, Birsen Aydemir, Deniz Ahmet Cinemre, Gunes Cihan Cinemre, Cengiz Karacaer, Leyla Afsar, Fatma Behice Serinkan

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Article in Irish journal of medical science, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

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8 authors.

Nurten BahtiyarDepartment of Biophysics, Cerrahpaşa Faculty of Medicine, Istanbul University-Cerrahpaşa, Kocamustafapaşa Street, Istanbul, 34098, Turkey. nurten.bahtiyar@iuc.edu.tr.ORCID http://orcid.org/0000-0003-2420-8415
Buket Kucuk AtamanDepartment of Biophysics, Faculty of Medicine, Sakarya University, Sakarya, Turkey.ORCID http://orcid.org/0009-0006-7641-6362
Birsen AydemirDepartment of Biophysics, Faculty of Medicine, Sakarya University, Sakarya, Turkey.ORCID http://orcid.org/0000-0003-1406-864X
Deniz Ahmet CinemreKenneth P. Dietrich School of Arts and Sciences, University of Pittsburgh, Pitssburgh, PA, USA.ORCID http://orcid.org/0000-0002-5512-6255
Gunes Cihan CinemreKenneth P. Dietrich School of Arts and Sciences, University of Pittsburgh, Pitssburgh, PA, USA.ORCID http://orcid.org/0009-0007-8257-1649
Cengiz KaracaerDepartment of Internal Medicine, Faculty of Medicine, Sakarya University, Sakarya, Turkey.ORCID http://orcid.org/0000-0002-7164-4810
Leyla AfsarDepartment of Medical Biochemistry, Faculty of Medicine, Sakarya University, Sakarya, Turkey.ORCID http://orcid.org/0000-0003-4122-5452
Fatma Behice SerinkanDepartment of Medical Biochemistry, Faculty of Medicine, Sakarya University, Sakarya, Turkey.ORCID http://orcid.org/0000-0002-1972-1575

Funding

Sakarya Üniversitesi 2018-40-01-001
6 · The paper itself

Abstract

backgroundVitamin B12 deficiency is a health concern leading to neurological and hematological disorders with genetic factors. This study investigated the effects of polymorphisms in the Transcobalamin II (TCN2, rs1801198) gene and its receptor CD320 (rs2336573) on serum vitamin B12 levels, circulating TCN2 and CD320 levels, and basic hematological parameters.

methodsPatients with vitamin B12 deficiency and healthy controls were included in the study. Genotyping was performed using the TaqMan SNP method, and serum TCN2 and CD320 concentrations were measured by ELISA. Vitamin B12 and hematological parameters were measured via autoanalyzer.

resultsGenotype and allele frequencies of TCN2 and CD320 polymorphisms did not differ significantly between patients and controls. Among individuals with vitamin B12 deficiency, carriers of the TCN2 CG genotype showed higher mean corpuscular volume (MCV) and lower total iron-binding capacity (TIBC), whereas those with the CC genotype had reduced CD320 levels. Carriers of the CD320 CC genotype showed lower CD320 and TIBC levels compared with controls. In individuals with B12 deficiency and the TCN2 CC genotype, B12 levels were inversely related to MCV and positively correlated with TCN2 and CD320 levels. Likewise, in CD320 CC carriers, CD320 levels showed a positive correlation with both vitamin B12 and TCN2.

conclusionAlthough no direct genetic association with B12 deficiency was identified, observed reductions in TCN2 and CD320 levels, along with alterations in related biochemical parameters, suggest a potential role of these genes in B12 metabolism. More extensive studies are needed to confirm these findings.

Indexed as

Antigens, CDTranscobalaminsVitamin B 12 DeficiencyAdultCase-Control StudiesFemaleGene FrequencyGenotypeHumansMaleMiddle AgedPolymorphism, Single NucleotideReceptors, Cell SurfaceVitamin B 12Antigens, CDCD320 protein, humanReceptors, Cell SurfaceTCN2 protein, humanTranscobalaminsVitamin B 12CD320CD320 (rs2336573)TCN2TCN2 (rs1801198)Vitamin B12 deficiency

Identifiers

PMID41175296

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