Homologous G776G Variant of Transcobalamin-II Gene is Linked to Vitamin B12 Deficiency
| العنوان: | Homologous G776G Variant of Transcobalamin-II Gene is Linked to Vitamin B12 Deficiency |
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| المؤلفون: | Alaa A. A. Aljabali, Murad Shehab, Mazhar Salim Al Zoubi, Wesam Al Khateeb, Khalid M. Al-Batayneh, Greg J. Eaton, Emad Hussein, Khaldon Bodoor, Christopher T. Cornelison, Mohammad Al Hamad, Bahaa Al-Trad |
| المصدر: | International Journal for Vitamin and Nutrition Research. 90:151-155 |
| بيانات النشر: | Hogrefe Publishing Group, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | 0301 basic medicine, medicine.medical_specialty, Transcobalamin II, Endocrinology, Diabetes and Metabolism, media_common.quotation_subject, Medicine (miscellaneous), 030105 genetics & heredity, Biology, Cobalamin, 03 medical and health sciences, chemistry.chemical_compound, Transcobalamin, Internal medicine, polycyclic compounds, medicine, Homologous chromosome, Vitamin B12, Internalization, Gene, media_common, 030109 nutrition & dietetics, Nutrition and Dietetics, Metabolic disorder, nutritional and metabolic diseases, General Medicine, medicine.disease, Endocrinology, chemistry |
| الوصف: | Abstract. 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 ( TCN2) 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 TCN2 and GIF 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 TCN2 and GIF polymorphisms. The control group (B12 > 200 mg/mL) included 100 individuals. Our results indicated a significant association between the homologous variant of the TCN2 gene (G776G) and vitamin B12 deficiency, and an intermediate phenotype in heterozygous individuals ( p < 0.001, OR = 5.6, 95% CI = 2.95 to 10.63). The GIF gene, however, showed no correlation between the A68G variant and vitamin B12 deficiency ( p = 0.2). This study expounds the association of TCN2 polymorphism with cobalamin levels in a Jordanian population and highlights the necessity of further studies to elucidate the molecular basis and impact of TCN2 and GIF genes polymorphisms on vitamin B12 deficiency and associated disorders. |
| تدمد: | 1664-2821 0300-9831 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_________::d04877f5f418d41e060ed985917f1890Test https://doi.org/10.1024/0300-9831/a000536Test |
| رقم الانضمام: | edsair.doi...........d04877f5f418d41e060ed985917f1890 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 16642821 03009831 |
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