Correlation Between Estrogen Receptor α Gene Polymorphism (c454-397T>C) with Serum Estradiol Levels and Known Risk Factors in Patients with Myocardial Infarction.

Myocardial infarction (MI) remains the most common cause of cardiac failure and continuous increasing rate of morbidity and mortality. We aimed to investigate the association of estrogen receptor-α (ESR1) gene polymorphism c454-397T>C with serum estradiol levels and dyslipidemia in 220 patients with MI in the age range of 35-70 years of both the genders. Genotyping study was performed through PCR-RFLP method using PvuII restriction enzyme. Serum estradiol level was estimated using the Access Sensitive Estradiol assay kit. Men patients had 43.2% increased risk for TC heterozygote in co-dominant (OR 10.66) and over-dominant models (OR 8.30), while women patients had 50% increased risk in co-dominant (OR 16.57) and over-dominant (OR 14.04) models. Variant C allele showed 25% increased risk of MI for in men (OR 2.24; CI 1.49-3.36; p = 0.0001), and 24% increased risk in women (OR 3.35; CI 1.95-5.76; p = 0.0001). Men patients had significantly increased serum estradiol levels compared to controls (25.28 ± 5.80 vs 17.04 ± 2.01; p < 0.0001). Significant difference was observed in estradiol levels between men and women patients (25.28 ± 5.80 vs 17.56 ± 3.32; p < 0.0001). Furthermore, significantly increased estradiol level was found in men patients compared to women for TT (25.46 ± 5.91 vs 16.71 ± 4.46; p < 0.0001), and TC genotypes (25.47 ± 5.91 vs 17.70 ± 2.86; p < 0.0001). Significantly increased HDL levels were observed in men patients with TC (43.10 ± 8.18 vs 38.91 ± 7.84; p < 0.01) and CC (47.16 ± 8.09 vs 38.91 ± 7.84; p < 0.001) genotypes compared to TT genotype. These findings suggest that TC heterozygote plays an important role as a genetic risk factor during MI pathogenesis in the South Indian population. Supplementary Information: The online version contains supplementary material available at 10.1007/s12291-022-01104-1.

Association of Angiotensin II Type 1 Receptor (AT1R) Gene Polymorphism with Angiotensin II Serum Levels in Patients with Essential Hypertension.

Essential hypertension (EH) is a multifactorial, polygenic condition, and is one of the most important comorbidities that contributes to stroke, myocardial infarction, cardiac failure, and renal failure. The continuous increasing rate of morbidity and mortality associated with EH presents an unmet need of population-based studies to explore pathophysiology as well as newer strategies for better diagnosis, prognosis and treatment. This study aimed to determine genotype and allele frequencies of A1166C polymorphism of AT1R gene in Indian patients with EH and correlated with serum levels of Angiotensin II. A total of 200 patients with EH and 200 age- and gender-matched control individuals were included in this study from the General Medicine Department Outpatient at Narayana Medical College and Hospital, Nellore, Andhra Pradesh, India. Patients with systolic blood pressure (SBP) ≥ 140 mmHg and/or diastolic blood pressure (DBP) ≥ 90 mmHg were considered as hypertensive. The findings of this study revealed significantly increased risk of C/A heterozygote and allele C in both men and women. Moreover, both men and women patients with EH showed higher serum levels of Angiotensin II with C/A as well as AA genotypes. These findings indicate a significant association of 1166 C/A polymorphism of the AT1R gene with increased risk of hypertension in Indian population.

Status of Vitamin D Receptor Gene Polymorphism and 25-Hydroxy Vitamin D Deficiency with Essential Hypertension.

Essential hypertension (EH) is a multifactorial and complex disease with high rate of incidence and associated co-morbidities. Previous studies do not provide unanimous results for the risk of hypertension and association with Fok I genotype frequency and serum vitamin D levels. Hence, this study was undertaken to determine the status of Fok I vitamin D receptor (VDR) gene polymorphism along with vitamin D levels and blood pressure in patients with EH. Four hundred (200 controls and 200 cases of essential hypertension) participants from general Indian population were enrolled in this study. Peripheral blood samples were collected for genotyping Fok I-VDR gene polymorphism using PCR-RFLP method whereas 25-OH vitamin D levels in serum were quantified using high performance liquid chromatography (HPLC). Significantly reduced 25-OH vitamin D levels were observed in patients with EH (24.04 ± 8.62 vs 50.46 ± 15.46) compared to control subjects (p = 0.0001). Homozygous recessive genotype 'ff' frequency was increased by 8.06 fold (CI: 3.71-17.47, p = 0.0001) in patients with EH compared to dominant 'FF' genotype frequency. In conclusion, recessive 'ff' genotype frequency correlates with reduced serum vitamin D levels and results in significantly increased systolic and diastolic blood pressures leading to predisposition of EH.

Association of dyslipidemia and inflammatory markers in type 2 diabetes mellitus.

Background: The interplay between inflammation and lipids has recently been the focus of research aimed at understanding the development of Type 2 diabetes mellitus and the process of atherogenesis. Inflammatory markers particularly Tumor necrosis factor-α and high sensitive C-reactive protein interfere with lipid homeostasis and activates proinflammatory mechanisms in type-2 Diabetes mellitus. Our aim of the study was to analyze and correlate the inflammatory markers with lipids in Type2 Diabetes mellitus. 50 diabetic subjects and 50 normal healthy controls were recruited from the outpatient department of Narayana Medical college and hospital, Nellore, A.P). Serum TNF-alpha concentration was measured using Sandwich ELISA kit method. commercial enzymatic methods were used in the determination of serum total.cholesterol, HDL cholesterol and Triacylglycerides. LDL cholesterol was estimated using friedewald equation. Turbidimetric immunoassay (QUANTIA CRP- US) is used for ultrasensitive determination of high sensitive C-reactive protein in serum. Results: serum levels of TNF-α and hs-CRP were significantly elevated in type 2 diabetes mellitus and correlated positively with triacylglycerides, total cholesterol and LDL cholesterol but negatively with HDL cholesterol. We conclude from our study that there is a strong association between proathergenic lipid profile and inflammatory markers in Type2Diabetes mellitus and suggests a significant role of the inflammatory markers in the pathogenesis of dyslipidemia in Type2diabetes mellitus.

Tumor necrosis factor–alpha in the development of insulin resistance in type 2 diabetes mellitus.

Obesity and Insulin resistance are very frequent disorders and are described as the dominant risk factors for cardiovascular diseases. Recent research suggests that TNF-alpha, an adipocytokine plays a key role in the development of insulin resistance. Aim of the study was to estimate TNF-alpha levels and to investigate the association of TNF-alpha with the various factors associated with insulin resistance like Body mass index, Waist Hip Ratio, fasting insulin etc. A total of 100 subjects attending out patient department of General Medicine , Narayana Medical College , Nellore were selected for the study.50 patients were diagnosed as type-2 diabetics and 50 subjects were taken as normal healthy controls who attended for a general check-up. Anthropometric and biochemical measurements were analyzed. Serum Insulin and TNF-α were measured using chemiluminescence method and ELISA method respectively. Homeostasis model assessment score was used to gauge the level of insulin resistance. Our Results showed significant elevation in TNF-alpha levels in diabetic subjects and correlations between TNFalpha Body Mass Index and HOMAIR were significant. All correlations were stronger for females compared to males.

Imbalance of oxidants and antioxidant systems in subjects with cirrhosis.

Oxidative stress has been increasingly implicated in the pathogenesis of cirrhosis. Ethanol and various viral infections will increase the production of reactive oxygen species (ROS) in the liver, resulting in an imbalance between oxidants and antioxidants. Thus determination of oxidants along with antioxidants,stated the role of oxidative stress more accurately in the pathogenesis of liver cirrhosis. In the present study we measured the markers of prooxidants, erythrocyte malondialdehyde (MAD), antioxidants that included erythrocyte catalase, reduced glutathione (GSH), glutathione peroxidase (GPx). 30 subjects with age 25-60 years, who were diagnosed as having liver cirrhosis by the department of Gastroenterology, Narayana Medical Hospital were included, 30 normal healthy individuals of the same age were selected as control . The results clearly indicated that the levels of pro oxidants, MDA were high in cirrhotic subjects than in the controls with p value of 0.0001. The levels of antioxidant enzymes GSH, Catalase were low in cirrhosis with p value of 0.0001 (GSH) and 0.067(Catalase). But the mean value of glutathione peroxidase was high in cirrhosis than in controls. This may be due to conterregulation with oxidative stress. Hence this study indicates the role of oxidative stress in liver cirrhosis and it clearly defines the imbalance between oxidants & antioxidants.