Homologous G776G Variant of Transcobalamin-II Gene is Linked to Vitamin B12 Deficiency
Vitamin B12 (Cobalamin) deficiency, due to improper internalization of cobalamin, is a metabolic disorder prevalent in impoverished and elderly populations and is associated with megaloblastic anemia and dementia. It has been suggested that mutations in transcobalamin II ( ) or gastric intrinsic fac...
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Published in | International journal for vitamin and nutrition research Vol. 90; no. 1-2; p. 151 |
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Main Authors | , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
Switzerland
01.01.2020
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Subjects | |
Online Access | Get more information |
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Summary: | Vitamin B12 (Cobalamin) deficiency, due to improper internalization of cobalamin, is a metabolic disorder prevalent in impoverished and elderly populations and is associated with megaloblastic anemia and dementia. It has been suggested that mutations in transcobalamin II (
) or gastric intrinsic factor (GIF) proteins can alter their binding efficiency to cobalamin or reduce the ability of their receptors to internalize them. In this case-control study, the correlation between vitamin B12 deficiency and alternative alleles of
and
was investigated in a Jordanian population. One hundred individuals with vitamin B12 deficiency (B12 < 200 mg/mL) were enrolled in our study to evaluate the
and
polymorphisms. The control group (B12 > 200 mg/mL) included 100 individuals. Our results indicated a significant association between the homologous variant of the
gene (G776G) and vitamin B12 deficiency, and an intermediate phenotype in heterozygous individuals (
< 0.001, OR = 5.6, 95% CI = 2.95 to 10.63). The
gene, however, showed no correlation between the A68G variant and vitamin B12 deficiency (
= 0.2). This study expounds the association of
polymorphism with cobalamin levels in a Jordanian population and highlights the necessity of further studies to elucidate the molecular basis and impact of
and
genes polymorphisms on vitamin B12 deficiency and associated disorders. |
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ISSN: | 0300-9831 |
DOI: | 10.1024/0300-9831/a000536 |