The A/C transversion at 1166 of the angiotensin II Type 1 Receptor AT1R) gene per se does not characterize any functional diversity but has been associated with expression of the AT1R, consequently molecular variants of the gene may modulate the possible risk of essential hypertension. The present study was performed to determine the genotypic frequency of the A1166C polymorphism of the AT1R gene in essential hypertensive patients with the aim to assess the effect of variants of this polymorphism in hypertension. AT1R gene amplification was performed by PCR and A1166C polymorphism was determined by enzyme digestion methodologies in 224 consecutively enrolled essential hypertensive patients and 257 controls. Suitable descriptive statistics was used for different variables. Results revealed that genotype and allele distribution of the A1166C variant differed significantly in hypertensives and normotensives. Allele frequency at the A1166C position was 61%A and 39%C for control and 52%A and 48%C for patients. Observed frequencies were compatible with HWE expected frequencies in cases as well as in controls. rs5186 was found to be associated with hypertension (95% CI 1.1453-2.7932,: 0.0106). The difference remained statistically significant after the multivariate adjustment ( < 0.05), with C/C variant conferring a risk of 1.74-fold of essential hypertension. This association was confirmed by inter-genotypic variations in the mean systolic and diastolic blood pressure in patients. In conclusion, genetic variation at the AT1R gene influences the risk of hypertension stratification and might serve as a predictive marker for the susceptibility to hypertension among affected families.
Type 2 diabetes is a complex and pleomorphic metabolic disorder arising from a complex interaction between genes and the environment. During the last decade there has been an outpouring of studies providing clues into the genetic architecture underlying type 2 diabetes mellitus. This review provides an overview of the genetics of type 2 diabetes in the context of recent progress in the understanding of the genetic susceptibility of the disease. Approximately 40 variants have been identified so far and the identification of these susceptibility loci for diabetes has introduced novel genes, pathways and mechanisms of diabetes pathogenesis. The genetic loci so far identified account for only a small fraction (approximately 10%) of the overall heritable risk for type 2 diabetes mellitus. Uncovering the missing heritability is essential to the progress of type 2 diabetes genetic studies and to the translation of genetic information into clinical practice. However, it may be a long time before all the susceptibility genes are found. It may take even more time before their roles in different pathways have been elucidated and the mechanisms involved in their interaction with other factors in the disease etiology clarified.
Several lines of experimental and clinical evidence have alluded a pivotal role of renin in blood pressure homeostasis and therefore a relevance of molecular variants of the renin gene and essential hypertension have been speculated. This study was designed to evaluate the pattern, alliance and risk of renin Mbo I (10631A>G; rs2368564) polymorphism at the locus intron 9 for a possible role in modulating essential hypertension in adult population from Gujarat (India). A total of 257 consecutively enrolled essential hypertensive patients and 270 controls were genotyped using polymerase chain reaction-restriction fragment length polymorphism method for the selected marker. Suitable descriptive statistics was used for different variables. Genotypic (x(2) 10.43, p 0.0054) and allelic (x(2) 11.46, p 0.0007) distribution of this SNP displayed significant differences between cases and controls with an increased frequency of the A allele (x(2) 6.275; p 0.0122) and A/A geno-type (x(2) 8.247; p 0.0041) in hypertensive individuals. However, it showed no deviation from Hardy-Weinberg equilibrium in either affected or control group. A significant association was found in the A/A variant of rs2368564 with essential hypertension (p 0.0032), along with a statistically significant increase in odds of hypertension (OR 1.69; CI 1.46-2.28; p 0.02), even after confounding factors were adjusted in multiple logistic regression analysis and is substantiated by inter-genotypic variations in the mean systolic and diastolic blood pressure in patients. In conclusion, renin 10631A>G gene mutation at the ninth intron play critical roles in BP (dys)regulation and can be implicated in an individual's susceptibility for hypertension.
Introduction and Background: Attitude Ethics and communication (AETCOM) teaching learning methodology needs to be innovative, informal and realistic. Internalization and actualization is important for having a long term impact on their interactions with patients, relatives as well as professional interactions with colleagues. Peer Assisted Learning (PAL) is an effective teaching and learning tool used extensively for various curricular components in medical education worldwide. Objective: the purpose of study was to find feasibility of use of PAL as teaching and learning modality to administer AETCOM module in Physiology. Method: After approval from IEC, in this study first year MBBS students practiced peer assisted learning for AETCOM module in Physiology by 5 peer tutors and 45 peer tutees. Teachers role was to facilitate the PAL methodology learning and preparing the Peer tutors for smooth conduct of PAL sessions. Study participants were evaluated using pre-validated five point Likert scale, structured short answer questions for PAL and AETCOM based case scenario and feedback questionnaire. Results: 42 MBBS students participated in the study. It was observed that peer tutees perceived PAL as interesting and innovative method for teaching and learning AETCOM module in Physiology. Open ended assessment showed that they had achieved desired score about understanding of the AETCOM module and PAL methodology. The feedback from facilitators also echoed the same with improvement in team learning behaviour and use of PAL technique not only for AETCOM but also for learning other curricular topics. Conclusion: PAL can be used as novel teaching learning tool for AETCOM module in Physiology.
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