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Background: Involvement of genetic factors like gene polymorphisms was found to contribute significantly to development and progression of Primary Open Angle Glaucoma (POAG) in the last few decades. Aim of study: The present study was carried out to investigate association of PPAR-γ (rs10865710) and CYP46A1 (rs754203) gene polymorphism with development of POAG in hypertensive North Indians. Patients and methods: Study included 328 individuals, 226 as POAG cases and 102 controls. PPAR-γ and CYP46A1 gene polymorphism was evaluated by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The genotypic and allelic frequency distribution in patients and controls was analyzed by SPSS (version 12.0). Results: In CYP46A1 gene polymorphism, TT genotype and T allele were found to be associated with a significantly decreased risk of POAG whereas the CT, CC genotypes and C allele were associated with an increased risk of POAG in both hypertensive and normotensive individuals. In PPAR-γ gene polymorphism, only GG genotype was nearly associated with POAG in only hypertensive cases. Conclusions: CYP46A1 (rs754203) gene polymorphism was associated with POAG in both hypertensive and normotensive patients whereas, only GG genotype of PPAR-γ (rs10865710) SNP shows significant association with POAG in hypertensive POAG patients.

Purpose: The present study was carried out to investigate the association of fatty acid-binding protein 2 (FABP2) and fat mass and obesity-associated (FTO) gene polymorphism with primary open-angle glaucoma (POAG) cases and controls. Materials And Methods: This study includes 122 POAG cases and 112 controls. FABP2 and FTO gene polymorphisms in cases and controls were evaluated by polymerase chain reaction-restriction fragment length polymorphism method. Results: The mean ages were 49.88 ± 12.34 and 53.74 ± 11.87 years in POAG cases and control groups, respectively. The FABP2 gene AA, AT, TT genotype frequencies were 12.90%, 62.40%, 24.80% in POAG cases and 20.60%, 64.70%, 14.70% in healthy controls, respectively. The frequencies of A and T allele in POAG cases were 44.06% and 55.94% as compared to 52.94% and 47.06% in the controls. The FTO gene AA, AT, TT genotype frequencies were 2.00%, 79.20%, 18.80% in cases and 0%, 75.50%, 24.50% in healthy controls, respectively. The frequencies of A and T allele in POAG cases were 41.58% and 58.42% as compared to 37.75% and 62.25% in the controls. No significant difference in the frequencies of FABP2 and FTO genotype was found between POAG cases and controls. Conclusion: We could not identify the possible association of FABP2 and FTO gene polymorphism with POAG; however, further studies with larger sample size in different population are require to clarify the role of FABP2 and FTO genes in susceptibility to POAG.

Type 2 diabetes mellitus (T2DM) is characterized by hyperglycaemia resulting from the combination of resistance to insulin action, excessive or inappropriate glucagon secretion, and inadequate insu...

Type 2 diabetes mellitus describes a metabolic disorder characterised by prolonged elevated blood glucose that brings a risk of developing microvascular and macrovascular disease. Several factors, such as dysregulation of the Toll-like receptor 4 (TLR-4), are reputed to contribute to the multiple pathophysiological disturbances responsible for impaired glucose homeostasis. We hypothesised that variants rs5030717 and rs5030718 of TLR4 are associated with diabetic nephropathy, hypertension and dyslipidaemia.We recruited 370 diabetics (122 with nephropathy, 119 with hypertension and 129 with dyslipidaemia) and 120 ethnicity matched healthy controls. TLR4 polymorphisms were evaluated using polymerase chain reaction followed by restriction fragment length polymorphism analysis. The genotyping data were compared between cases and controls using chi-square test and logistic regression analysis.Although there was no overall difference in the genotype frequencies of TLR4 rs5030717 in diabetes v controls, the genotype frequencies of diabetic dyslipidaemia cases compared with controls were different (p = 0.001). Overall, the rs5030718 GA and GG genotype frequencies in the entire diabetes cohort were different from those of the controls (p = 0.037), and the frequencies of diabetic nephropathy cases (p = 0.03) and diabetic dyslipidaemia cases were different (p = 0.001) compared with controls. There were no links with diabetic hypertension.TLR4 polymorphisms rs5030717 and rs5030718 may be useful in predicting those type 2 diabetics who are at risk of hypertension, nephropathy and/or dyslipidaemia.

Type 2 diabetes mellitus (T2DM) is growing in an epidemic manner across the world and India has the world’s largest number of diabetic subjects. The present study was carried out to investigate the association of glutathione-S-transferase (GSTM1, GSTT1) and fat mass and obesity associated (FTO) gene polymorphisms with T2DM patients and controls, and its role in increasing the susceptibility to T2DM. A total of 198 subjects (101 T2DM patients and 97 controls) participated in this study. GSTM1, GSTT1 and FTO gene polymorphisms in the patients and controls were evaluated by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). We observed significant association of GSTM1 positive (p = 0.046) and GSTM1 null (p = 0.046) genotypes with T2DM, while no significant association was found with the FTO gene polymorphism in our study. It seems that the GSTM1 gene polymorphism can be a predictive marker for early identification of a population at risk of T2DM. The potential role of GST and FTO gene polymorphisms as a marker of susceptibility to T2DM needs further studies in a larger number of patients.

The present study was carried out to investigate the association of GST and FTO gene polymorphisms with cataract cases and controls.The study included 131 cases and 126 controls. GST and FTO gene polymorphisms were evaluated by PCR-RFLP.The frequency of the GSTM1-positive and GSTT1-positive in cataract cases were 62.13% and 86.40% while in the controls it was 46.39% and 95.87% with odds ratios of 1.9 (95% CI, 1.08-3.32; p value 0.025) and 0.27 (95% CI, 0.09-0.86; p value, 0.019) respectively. There was a statistically significant association between the GSTM1 null genotype and the risk of cataract development with an odds ratio of 0.43 (95% CI, 0.24-0.76; p value, 0.003). Significant differences were obtained in the frequencies of FTO AA and TT genotype (p = 0.023 and 0.023) between cases and controls.The present study suggested that GSTM1, GSTT1 and FTO gene polymorphisms are associated with increased risk for cataract in North Indian populations. Due to the limited sample size, the finding on GST and FTO gene polymorphisms need further investigation.

Background Diabetes mellitus is a metabolic disorder which can affects the body's ability to produce or use of the hormone insulin leads to high blood sugar levels and it may serves as a host of complications. Emerging evidence suggests that common and rare genetic polymorphisms can influence the risk of developing diabetic complications. We attempt to evaluate the association of (rs7903146 and rs290487) variants of TCF7L2 gene with diabetic nephropathy and co-morbidities (hypertension and dyslipidemia) in T2DM. Material & methods A total of 370 cases including 122 T2DM with Nephropathy, 119 T2DM with Hypertension, 129 T2DM with Dyslipidemia and 120 ethnicity matched healthy controls were included in this case-control study. TCF7L2 gene polymorphism was evaluated using polymerase chain reaction followed by restriction fragment length polymorphism analysis. Results Significant difference in TCF7L2 (rs7903146) gene was observed when the genotype frequencies of group 1, 2 and 3 compare with control (p = 0.048, 0.005 and 0.004) whereas, no association of TCF7L2 (rs290487) gene was found with group 1, group 2 and group 3 (p = 0.808, 0.466 and 0.285). Significant difference in TCF7L2 (rs7903146) gene was observed when the genotype frequencies of group 1 and group 3 compare with group 2 (p Conclusion Our findings suggest that TCF7L2 (rs7903146) gene polymorphism might be involved in the pathogenesis of diabetic nephropathy and co-morbidities (hypertension and dyslipidemia) in T2DM.

Type 2 diabetes mellitus (T2DM) is growing in an epidemic manner across the world with an expected doubling of the incidence to millions of affected individuals in the last decades. At present, adequate data are not available regarding the ACE and FABP2 polymorphisms and their susceptibility with T2DM cases in the North Indian population. Thus we conceived the need for further study of ACE (I/D) and FABP2 (Ala54Thr) genes polymorphism and its susceptibility to T2DM in the North Indian population.In this study, a total of 300 subjects (including 190 T2DM cases and 110 controls) participated. ACE and FABP2 gene polymorphisms in the cases and controls were evaluated by polymerase chain reaction and restriction fragment length polymorphism.The frequencies of ACE I/I, I/D and D/D genotypes in T2DM cases and controls were 28.73%, 55.17%, 16.09% and 13.63%, 57.95%, 28.40%, respectively. The frequencies of FABP2 Ala54Ala, Ala54Thr and Thr54Thr in T2DM cases were 18.39%, 66.66%, 14.94% and 22.72%, 61.36%, 15.90% in controls, respectively. ACE I/I genotype was significantly more frequent in cases as compared to controls (p = 0.003, χ(2) = 9.13).It appears that the ACE I/I genotype frequency was significantly higher in the T2DM cases as compared to the controls.

Diabetes is growing as an epidemic, with around 250 million diabetics estimated globally and which is expected to rise up to 380 million in the next 15 years. Differences in the efficacy and toxicity of various antidiabetic drugs have been linked to polymorphisms in various drug metabolizing enzymes. In this study we have investigated the frequency of occurrence of two single nucleotide polymorphisms in the CYP gene (CYP2C8*3 and CYP2C9*2) in type 2 diabetes mellitus (T2DM) patients from North India.

Background Type 2 diabetes mellitus is a multifactorial and polygenic disease, which is considered as a major life threatening problem all over the world. There has been a worldwide effort in the identification of susceptibility genes for type 2 diabetes mellitus and its complications. At present, adequate data is not available dealing with MTHFR (rs1801133) and PPARγ2 (rs1801282) gene polymorphisms and its association with type 2 diabetes mellitus cases among north Indian populations. Thus, we conceived the need for further studies to investigate MTHFR and PPARγ2 gene polymorphisms and their susceptibility to type 2 diabetes mellitus in north Indian population. Materials and methods In this study, a total 175 subjects including 87 type 2 diabetes mellitus cases and 88 controls were enrolled. MTHFR and PPARγ2 gene polymorphisms in the cases and controls were evaluated by polymerase chain reaction and restriction fragment length polymorphism (PCR–RFLP). Results The MTHFR gene CC, CT, TT genotype frequencies obtained were 40%, 43%, and 17% in type 2 diabetes mellitus cases and 56%, 29%, and 15% in healthy controls respectively. The OR for CC was 0.54 (95%CI 0.29–0.98, P = 0.041, χ2 = 4.18, power = 0.98), for CT 1.76 (95%CI 0.94–3.30, P = 0.07, χ2 = 3.2, power = 0.96), and for TT 1.2 (95%CI 0.53–2.70, P = 0.66, χ2 = 0.198, power = 0.76). The PPARγ2 gene GG CG, CC genotype frequencies obtained were 28%, 41%, and 31% in cases and 40%, 39%, and 21% in healthy controls respectively. OR for GG was 0.58 (95%CI 0.30–1.09, P = 0.08, χ2 = 2.9, power = 0.96), for CG 1.12 (95%CI 0.61–2.05, P = 0.71, χ2 = 0.137, power = 0.778), and for CC 1.63 (95%CI 0.82–3.23, P = 0.156, χ2 = 2.01, power = 0.92). Conclusion It might be recommended that MTHFR CC genotype seems to be a good marker for the early identification of population at risk of type 2 diabetes mellitus. While we have detected significant difference in allelic frequencies of PPARγ2 C (Proline) and G (Alanine), but at genotypic level significant difference was not detected in this case–control study. Further study with larger groups may be required to validate the study.

Objectives: This study aimed to examine the association of angiotensin-converting enzyme (ACE) and glutathione S-transferase (GST) gene polymorphisms with body mass index (BMI) in hypertensive North Indians. Methods: This case-control study was carried out between May 2013 and November 2014 at the Era’s Lucknow Medical College & Hospital, Lucknow, India, and included 378 subjects divided into three groups. One group constituted 253 hypertensive individuals (sustained diastolic blood pressure of >90 mmHg and systolic blood pressure of >140 mmHg) who were subcategorised according to normal (

Background: Type 2 diabetes mellitus (T2DM) is growing in an epidemic manner across the world with an expected doubling of the incidence to millions of affected individuals in the last decades. At present, adequate data are not available regarding the ACE and FABP2 polymorphisms and their susceptibility with T2DM cases in the North Indian population. Thus we conceived the need for further study of ACE (I/D) and FABP2 (Ala54Thr) genes polymorphism and its susceptibility to T2DM in the North Indian population. Materials and methods: In this study, a total of 300 subjects (including 190 T2DM cases and 110 controls) participated. ACE and FABP2 gene polymorphisms in the cases and controls were evaluated by polymerase chain reaction and restriction fragment length polymorphism. Results: The frequencies of ACE I/I, I/D and D/D genotypes in T2DM cases and controls were 28.73%, 55.17%, 16.09% and 13.63%, 57.95%, 28.40%, respectively. The frequencies of FABP2 Ala54Ala, Ala54Thr and Thr54Thr in T2DM cases were 18.39%, 66.66%, 14.94% and 22.72%, 61.36%, 15.90% in controls, respectively. ACE I/I genotype was significantly more frequent in cases as compared to controls ( p = 0.003, χ 2 = 9.13). Conclusion: It appears that the ACE I/I genotype frequency was significantly higher in the T2DM cases as compared to the controls.

Hypertension has a multi-factorial background based on genetic and environmental interactive factors. ACE, FABP2 and GST genes have been suggested to be involved in the development of hypertension. However, the results have been inconsistent.The present study was carried out to investigate the association of ACE (rs4646994), FABP2 (rs1799883) and GST (GSTM1 null or positive genotype and GSTT1 null or positive genotype) genes polymorphism with essential HTN cases and controls.This study includes 138 essential hypertension (HTN) patients and 116 age-, sex- and ethnicity-matched control subjects. GST (GSTM1 null or positive genotype and GSTT1 null or positive genotype) genes polymorphisms were evaluated by multiplex PCR, ACE (rs4646994) gene polymorphisms by PCR and FABP2 (rs1799883) gene polymorphisms by PCR-RFLP method.Significant differences were obtained in the frequencies of ACE DD, II genotype (p = 0.006, 0.003), GSTT1 null, GSTM1 positive genotype (p = 0.048, 0.010) and FABP2 Ala54/Ala54 genotype (p = 0.049) between essential HTN cases and controls.It is concluded that ACE (rs 4646994), FABP2 (rs1799883) and GST (GSTM1 null or positive genotype and GSTT1 null or positive genotype) genes polymorphism are associated with HTN. Further investigation with a larger sample size may be required to validate this study.

Background Cataract is the leading cause of bilateral blindness in India. It has been reported that cataract is responsible for 50–80% of the bilaterally blind in the country. Cataract formation is a natural part of the ageing process. At present, adequate data are not available regarding the FABP2 and PPARG2 gene polymorphisms and their susceptibility with cataract cases in the North Indian population. Thus, the present study was carried out to investigate the association of FABP2 and PPARG2 gene polymorphisms with cataract cases and controls. Materials and methods This study includes 130 cataract cases and 118 controls. FABP2 and PPARG2 gene polymorphisms in cases and controls were evaluated by PCR-RFLP. Results Frequencies of Ala54Ala, Ala54Thr and Thr54Thr genotypes in FABP2 gene in cataract cases and controls were 50.76%, 39.23%, 10% and 25.42%, 61.86%, 12.71% respectively. The PPARG2 gene CC, CG, GG genotype frequencies were 11.53%, 87.69% and 0.76% in cases and 21.18%, 39.83% and 38.98% in healthy controls respectively. Significant differences were observed in the frequencies of FABP2 Ala54Ala, Ala54Thr genotype (p, Highlights • The frequency of FABP2 Ala54Ala genotype was significantly higher in cases. • The frequency of Ala54Thr genotype was significantly lower in cases. • The frequency of PPARγ2 CC and GG genotype was considerably lower in cases.

Type 2 diabetes mellitus (T2DM) is a non-autoimmune, complex, heterogeneous and polygenic metabolic disease condition characterized by persistent elevated blood glucose levels (hyperglycemia). India as said to be the diabetic capital of the world is likely to experience the largest increase in T2DM and a greater number of diabetic individuals in the world by the year 2030. Identification of specific genetic variations in a particular ethnic group has a critical role in understanding the risk of developing T2DM in a much efficient way in future. These genetic variations include numerous types of polymorphisms among which single nucleotide polymorphisms (SNPs) is the most frequent. SNPs are basically located within the regulatory elements of several gene sequences. There are scores of genes interacting with various environmental factors affecting various pathways and sometimes even the whole signalling network that cause diseases like T2DM. This review discusses the biomarkers for early risk prediction of T2DM. Such predictions could be used in order to understand the pathogenesis of T2DM and to better diagnostics, treatment, and eventually prevention.

Purpose: Glaucoma is the leading cause of irreversible blindness and the second most common cause of all blindness after cataracts. This study investigates the association of polymorphism in the CYP46A1 and PPARγ2 genes and primary open angle glaucoma (POAG). Materials and Methods: This study evaluated 122 POAG cases (POAG group) and 112 cases of nonglaucomatous patients (control group). Polymorphisms of the CYP46A1 gene and PPARγ2 gene were evaluated with the polymerase chain reaction-restriction fragment length polymorphism method in both groups. Results: The mean ages were 49.88 ± 12.34 years and 53.74 ± 11.87 years for the POAG group and control group, respectively. The CYP46A1 gene CC, CT, TT genotype frequencies were 13.93%, 58.2%, 27.87% in the POAG group and 19.6%, 40.19%, 40.19% in the control group, respectively. The PPARγ2 gene CC, CG, GG genotype frequencies were 16.83%, 54.45%, 28.71% in cases and 3.92%, 28.43%, 67.64% in the control group, respectively. Statistically, significant differences in the frequencies of CYP46A1 CC, CT, TT and PPARγ2 CC, CG, GG (P < 0.05) genotype were found between groups (P < 0.05, all comparisons). Conclusion: Findings of this study suggest that CYP46A1 gene and PPARγ2 gene polymorphisms can be a predictive marker for early identification of population at risk of POAG, although a larger sample size is required to determine the role of these polymorphisms in the pathogenesis and course of POAG.