Association between Vitamin D Receptor Gene Polymorphism (Fok 1), Vitamin D Status and Autoimmune Thyroiditis.

Autoimmune thyroiditis gradually destroys the thyroid gland leading to hypothyroidism and may even lead to papillary thyroid carcinoma. Deficiency of Vitamin D has been linked to development of autoimmunity. Single nucleotide polymorphisms of the Vitamin D receptor gene have associated with autoimmune diseases in several studies. In this hospital based non interventional cross-sectional study Vitamin D receptor gene was studied for FokI (rs2228570) polymorphism from purified DNA in forty-eight adult cases and fifty age and sex matched healthy controls. This study was conducted in the department of Biochemistry, Calcutta National Medical College, Kolkata, West Bengal, India from January 2021 to July 2022. Their DNA was isolated using phenol chloroform method and were analysed for the related single nucleotide polymorphism by restriction digestion using appropriate restriction enzymes after amplification by PCR. Differences in allele frequencies between two groups were estimated by chi square and odds ratio test. Any potential association between the vitamin D anti TPO antibody and thyroid hormone status with polymorphic variations were assessed by post hoc ANOVA among the three genotypes. The distribution of FF genotype was significantly higher among the case group (Χ²=10.2788, p=0.006). The odds ratio for the allele F was significantly higher in case group for a range of 1.97 to 5.94 for 95 percent confidence interval (Χ²=13.9678, p=<0.001). The genotype FF group had significantly lowest Vitamin D (p=0.008) and highest Anti TPO ab (p=0.031) compared to Ff and ff genotypes. Thus, significant association was revealed between the VDR gene Fok1(rs2228570) polymorphism and autoimmune thyroiditis with the predominance of FF genotype being a strong susceptibility factor for autoimmune thyroiditis and Vitamin D deficiency in the studied population of Eastern India.

Association of Serum Vitamin D Level with its Receptor Gene Polymorphism BSML in Beta Thalassemia Major Patients from East India.

Background Vitamin D deficiency is commonly identified in beta thalassemia major patients, related to iron accumulation.Vitamin D mediates its action upon binding to vitamin D receptor (VDR), a classical nuclear receptor. Several single nucleotide gene polymorphisms has been identified in VDR gene among which Bsml is commonly studied for its association with bone mineralisation and osteoporosis. Objective To explore the association between the Vitamin D Receptor Polymorphism (BsmI) and serum levels of Vitamin D, ionised Calcium, alkaline phosphatase in patients with beta thalassemia major. Method VDR gene was studied for Bsml polymorphisms from purified DNA in thirty six beta thalassemic patients (cases) - fourteen male and twenty two females, and thirty three controls after amplification by PCR followed by restriction digestion using appropriate restriction enzymes. Allelic differences between two groups were assessed by chi square and odds ratio test. Any potential link between the polymorphic variations and vitamin D status were assessed by post hoc ANOVA with bonferroni correction among the three genotypes. Result The distribution of BB genotype was significantly higher among the case groups (thalassemic group, χ2 = 9.77, p= 0.008). The odds ratio for the allele B was significantly higher in thalassemia group for a range of 1.97 to 5.94 for 95 percent cofidence interval (χ2 =10.4, p=0.0013). Serum Vitamin D, ionised Calcium were significantly low (p < 0.001) and Alkaline phosphatase (p < 0.001), was significantly high in thalassemics (cases). The genotype BB group had significantly low Vitamin D (p=0.001) and ionised Calcium (p < .001) compared to Bb and bb. The bb genotype had the highest levels of Vitamin D and ionised Calcium among the three genotypes. Conclusion The thalassemic patients are prone to Vitamin D deficiency and the superimposed predominance of BB genotype in them may be a risk factor for osteoporosis and cardiac dysfunction. Moreover, the study indicated genotype bb to have a probable protective role against Vitamin D deficiency in beta thalassemic patients.

Assessment of Variations in Oxidative Stress in Newborns from Caesarian and Normal Delivery Based on Apgar Score.

Fetal distress seems to be strongly related to fetal hypoxia, which is known to cause derangement of the balance between pro-oxidant and anti-oxidant factors by depleting the antioxidant reserve and increasing oxidative stress. Reduced Apgar score signify the fetal distress in postpartum period. The current study explores the severity of oxidative stress and nitrosative stress markers along with the antioxidant status in the cord blood of the newborns with low Apgar score (Group 1), fairly low Apgar score (Group 2) and normal Apgar score (Group 3) in both categories born by Cesarean section (CS) and Normal delivery (ND). Cord blood was collected from eighty full terms, mature neonates of both sexes; forty born via ND and 40 delivered by CS. Apgar scores were recorded and they were grouped based on the different levels of the score. Methemoglobin (HbM), RBC glucose-6-phosphate dehydrogenase (G6PD), RBC reduced glutathione (GSH) were measured as markers of oxidative stress, whereas serum nitrate and nitrite levels were assayed as markers of nitrosative stress. The data obtained were analyzed for the level of significance between study variables. One way ANOVA revealed statistically significant difference between the means of HbM (1.48±0.52, 1.03±0.4 and 0.69±0.31 for Group 1, 2 and 3 respectively, p<0.001), RBC G6PD (15.62±1.99, 18.16±2.47, 21.93±3.91) RBC GSH (7.7±1.55, 10.75±2.31, 16±6.10), serum nitrate (63.18±17.14, 49.29±14.39, 40.86±8.83) serum nitrite (4.89±1.8, 4.64±1.04, 3.69±0.72) between the three groups of ND neonates. The results were almost similar in CS neonates (HbM - 2.17±0.95, 1.45±0.62, 0.8±0.3; G6PD - 12.54±2.31, 14.31±2.17, 18.1±3.13; GSH - 7.6±2.23, 9±2.11, 12.78±2.83) except serum nitrate and nitrite where no significant difference was found between means among the different Apgar groups. The results suggest that lowest Apgar score ND neonates are exposed to highest oxidative, nitrosative stress and have the poorest antioxidant defense. The CS neonates have the similar fate except the insignificant difference between the nitrosative stresses among the three Apgar score groups signifying that they are better protected against the nitrosative stress than their ND counterparts.