An Association study TRANSFERIN (TF) gene polymorphism with Iron Deficiency Anaemia

Iron-deficiency anemia (IDA) is the most common type of anemia, caused by inadequate iron availability for hemoglobin production due to the lack of dietary iron or insufficient uptake of iron. Transferrin (TF) exerts a crucial function in the maintenance of systematic iron homeostasis. The expression of the TF gene is controlled by transcriptional mechanism, although little is known about its influence on IDA. Hence, the aim of the current investigation was to determine the functional polymorphism (rs3811647) of TF gene in iron deficiency anemia. TF (Transferin) gene SNP rs3811647 create restriction site for HinII. The PCR products when digested by restriction enzyme and wild type allele 250 bp segment which were generated by PCR but the mutant allele shows 180 and 70 bp segments. The product sizes are Wild type homozygote, 250 bp; mutant homozygote, 180 and 70 bp; and heterozygote, 250, 160, and 70 bp respectively.        Overall distribution of TF (Transferin) genotypes was significantly different in healthy control group as compared to disease group (χ²=13.01, P=0.0015**). HC group showed an decrease frequency of mutant ‘GG’ genotype as compared to Patients of Anaemia (1.11% vs. 4.37%). An odds ratio of 0.4584 in Anemia group respectively for ‘AA’ genotype indicated a protective effect of this type genotype in our population whereas an odds ratio of 4.072 for Mutant GG Anaemia patients group respectively indicated a positive association of this wild type genotype with the disease, heterozygous is also significantly different but may be not protective because of odds ratio of 0.7094. allele ‘A’ was found to be in significantly low frequency in disease group as compared to HC group thus allele ‘G’ was present in significantly low frequency in the healthy control group (χ² =12.07 P= 0.0005***). G allele shows an odds ratio of 0.5065 which indicates its protective association. The pattern of genotype and allele distribution in disease and control group suggested a significant association of TF (Transferin) gene SNP rs3811647 to Anaemia in our tribal population.