Investigation of transcobalamin ii gene polymorphisms in vitamin b12 deficiency

In recent studies, vitamin B12 deficiency is commonly seen in the community. Vitamin B12 deficiency maybe caused by many factors like genetic factors. Vitamin B12 deficiency cause many health problems. Dietary vitamin B12 is bound to the body compartments by binding with various proteins. The aim of this study is to investigate the effect of transcobalamin II gene (rs1801198) and transcobalamin II receptor gene (rs2336573) variants as a risk factor for vitamin B12 which play a role in the transport of vitamin B12 in the body. Our study was carried out in two groups of 94 individuals with vitamin B12 deficiency and 119 individuals with normal vitamin B12. rs1801198 and rs 2336573 variant analyzes were performed on Real Time-PCR. The mean age and gender distribution of both groups were similar. rs1801198 genotype and allele distributions in the group with vitamin B12 deficiency: CC 26.60 %, CG 57.45 %, GG 15.95 % ; C allele 55.32 % and G allele 44.68% ; In the group with normal vitamin B12: CC 34.45 %, CG 48.74 %, GG 16.81 %; The C allele was 58.82 % and the G allele was 41.18 %. genotype and allele distributions of rs2336573 in the group with vitamin B12 deficiency: CC 92.62%, CT 5.32%, TT 1.06%; C allele 96.28% and T allele 3.72%; In the group with normal vitamin B12: CC 94.12%, CT 5.04%, TT 0.84%; The C allele was 96.64 % and the T allele was 3.36 %. Genotypes and allele distributions of rs1801198 and rs2336573 were not statistically found as significant. However, when the same genotypes of the groups were compared, serum B12 levels were seen as significantly decreased in the group with vitamin B12 deficiency. As a result of this study, it was determined that rs rs1801198 and rs2336573 variants do not pose a risk to individuals in our study. However, it was found that the same genotypes may be related to vitamin B12 deficiency due to differences in vitamin B12 levels. Further studies are needed to investigate the molecular mechanisms of vitamin B12.