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1.
DNA repair capacity is essential in maintaining cellular functions and homeostasis. Identification of genetic polymorphisms responsible for reduced DNA repair capacity may allow better cancer prevention. Double strand break repair pathway plays critical roles in maintaining genome stability. Present study was conducted to determine distribution of XRCC3 Exon 7 (C18067T, rs861539) and XRCC7 Intron 8 (G6721T, rs7003908) gene polymorphisms in North Indian population and compare with different populations globally. The genotype assays were performed in 224 normal healthy individuals of similar ethnicity using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Allelic frequencies of wild type were 79% (C) in XRCC3 Exon 7 C > T and 57% (G) in XRCC7 Intron 8 (G > T) 57% (G) observed. On the other hand, the variant allele frequency were 21% (T) in XRCC3 Exon 7 C > T and 43% (T) in XRCC7 Intron 8 G > T respectively. Major differences from other ethnic populations were observed. Our results suggest that frequency in these DNA repair genes exhibit distinctive pattern in India that could be attributed to ethnicity variation. This could assist in high-risk screening of humans exposed to environmental carcinogens and cancer predisposition in different ethnic groups.  相似文献   

2.
The C677T polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene was implicated to be associated with thrombophilia due to its role in catalyzing the formation of 5-methylenetetrahydrofolate, a co-substrate for the conversion of homocysteine to methionine. Several case–control studies were investigated MTHFR C677T polymorphism as risk for recurrent pregnancy loss (RPL). These studies rendered contradictory results, some indicating that the polymorphism is associated with the risk of RPL whereas others concluded there is no association. To shed light on these inconclusive findings, a meta-analysis of all available studies published from Asian population relating the C677T polymorphism to the risk of RPL was conducted. The following electronic databases were searched without language restrictions: PubMed, Google Scholars, Elsevier and Springer Link up to December, 2015. Meta-analysis was performed using MetaAnalyst and Mix version 1.7. Meta-analysis results suggested that MTHFR C677T polymorphism contributed to the increased RPL risk in Asian population using all five genetic models (for T vs. C: OR 1.35, 95 % CI 1.09–1.68, p = 0.009; for TT + CT vs. CC: OR 1.44, 95 % CI 1.14–1.82, p = 0.006; for CT vs. CC: OR 1.39, 95 % CI 1.07–1.8, p = 0.01; for TT vs. CC: OR 1.79, 95 % CI 1.23.2.6, p = 0.007; for TT vs. CT + CC: OR 1.61, 95 % CI 1.02–2.56, p = 0.04). In conclusion, this meta-analysis demonstrates a strong association between the MTHFR C677T variant and RPL in Asian population and raising the importance of the use of folate in its treatment and prevention.  相似文献   

3.
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4.
Adhesion molecules play a key role in cancer progression and tumorigenesis. Genetic polymorphism of adhesion molecules may alter the normal functioning thereby leading to bladder cancer susceptibility. Hence we aimed to evaluate three SNPs of CD166 gene (CD166rs6437585 C/T, CD166rs10511244 C/T, and CD166rs1157 A/G) in bladder cancer patients and normal controls of North Indian population. A total of 270 healthy controls and 240 confirmed bladder cancer patients were recruited for this study. Three SNPs of CD166 gene viz. CD166rs6437585 C/T, CD166rs10511244 C/T, and CD166rs1157 A/G were selected for this study. CD166rs6437585 C/T and CD166rs10511244 C/T were genotyped by Taqman allelic discrimination assay and CD166rs1157 A/G was genotyped by PCR–RFLP. The statistical analysis was done using the SPSS software, version 16.0 (SPSS, Chicago, IL), and p < 0.05 was considered statistically significant. Haplotypic analysis was done by using SNP analyzer version 1.2A. CD166rs6437585 C/T and CD166rs10511244 C/T showed significant association with reduced risk in bladder cancer while CD166rs1157 A/G showed significant high risk along with association at genotypic and allelic levels. Haplotypic analysis showed 1.8-folds risk in CCG combination, whereas CTA and TCG showed significant association with reduced risk. Further stratification on the basis of smoking, tumor grade/stage and BGC therapy revealed no association of these three polymorphic sites of CD166. Our study suggests that CD166rs6437585 C/T and CD166rs10511244 C/T are predictive for the reduced risk of bladder cancer, whereas CD166rs1157 A/G had shown significant association with high risk of bladder cancer in North Indians. This somehow suggests that CD166rs1157 A/G can be used as a marker for risk prediction of bladder cancer.  相似文献   

5.
Hepatitis B virus (HBV) infection is a worldwide health concern which is associated with significant morbidity and mortality. Both viral and host factors have a significant effect on infection, replication and pathogenesis of HBV. The aim of this study was to investigate the effect of CYP2E1 and CYP1A1 genetic variants on susceptibility to HBV. 143 individuals including 54 chronic HBV patients and 89 healthy controls were enrolled in the genotyping procedure. rs2031920 and rs3813867 at CYP2E1 as well as rs4646421 and rs2198843 at CYP1A1 loci were studied in all subjects using PCR–RFLP (restriction fragment length polymorphism) analysis. Both variants at CYP2E1 locus were monomorphic in all studied subjects. Genotype frequency of rs4646421 was significantly different between chronic HBV patients and healthy blood donors (P = 0.04, OR 4.31; 95% CI 1.04–17.7). Furthermore, individuals carrying at least one C allele (CC or CT genotypes) for rs4646421 seemed to have a decrease risk of hepatitis in comparison with TT genotype (P = 0.039). Our results showed a relationship between rs4646421 TT genotype (rare genotype) and the risk for developing chronic HBV infection (four times higher). Further studies are needed to examine the role of CYP1A1 polymorphism in susceptibility to chronic HBV infection.  相似文献   

6.
Ocimum sanctum Linn. (also known as Tulsi) is a sacred Indian plant, the beneficial role of which, in obesity and diabetes is described traditionally. This is a randomized, parallel group, open label pilot study to investigate the effect of O. sanctum on metabolic and biochemical parameters in thirty overweight/obese subjects, divided into two groups A and B. Group A (n = 16) received one 250 mg capsule of Tulsi (O. sanctum) extract twice daily in empty stomach for 8 weeks and group B (n = 14) received no intervention. Statistically significant improvements in the values of serum triglycerides (p = 0.019); low density lipoprotein (p = 0.001); high density lipoprotein (p = 0.001); very low density lipoprotein (p = 0.019); Body Mass Index, BMI (p = 0.005); plasma insulin (p = 0.021) and insulin resistance (p = 0.049) were observed after 8 weeks in the O. sanctum intervention group. The improvement in HDL-C in the intervention group when compared to the control group was also statistically significant (p = 0.037). There was no significant alteration of the liver enzymes SGOT and SGPT in both the intervention (p = 0.141; p = 0.074) and control arms (p = 0.102; p = 0.055) respectively. These observations clearly indicate the beneficial effects of O. sanctum on various biochemical parameters in young overweight/obese subjects.  相似文献   

7.
Angiotensin-1-converting enzyme (ACE) gene has established substantial attention in the recent years as a candidate gene for hypertension, cardiovascular diseases and type 2 diabetes. The aim of the present study was to investigate the association of ACE (I/D) polymorphism with coronary artery disease (CAD) in a north Indian population. A total of 662 subjects (330 CAD patients and 332 healthy controls) were examined for association of ACE gene (I/D) polymorphism and environmental risk factors. The mean age of the CAD patients and control subjects was 60.53 ± 8.6 years and 56.55 ± 7.7 years, respectively (p = 0.000). Anthropometric and demographic data showed BMI values significantly higher among CAD patients and control subjects (26.98 ± 4.9 vs 24.04 ± 4.7, p = 0.000). We observed pronounced central obesity in both CAD patients and controls, even at the lowest BMI values (<23 kg/m2). Dyslipidemia was highly prevalent in CAD patients compared to control subjects. Genotypic data showed significantly higher frequency of DD genotype in CAD patients than that of control subjects (40 vs 28.3 %). No significant difference was observed in the distribution of ID genotypes between CAD patients and control subjects. Logistic regression analysis of data demonstrate that DD genotype was associated with 1.8 fold increased risk of development of CAD in Asian Indians (OR 1.8; 95 % CI 1.22–2.66; p = 0.003). The frequency of D allele was significantly higher in CAD patients (p = 0.001). No significant difference was observed in the clinical and biochemical characteristics of CAD patients and controls when the data was stratified according to the genotypes of ACE gene. In conclusion, DD genotype of ACE gene may be associated with increased risk of CAD in Asian Indian population.  相似文献   

8.
In the present study, we investigated the relationship between an important 27 bp repeat polymorphism in intron 4 of eNOS and numbers of circulating EPCs in presence of cardiovascular disease (CVD) risk factors in a group of healthy human volunteers. The study comprised of 45 healthy subjects (30–50 years). These subjects had various degrees of CVD risk but no history of CVD. The repeat polymorphism of eNOS was detected by polymerase chain reaction and EPC levels were analyzed by flow cytometry. We observed a good association between the intronic 4 mutant a/b genotype and the combined Framingham risk factor score in our subjects (χ2 = 3.2, P = 0.07). EPC numbers in subjects with mutant eNOS a/b genotype were also less than those observed in subjects with normal eNOS b/b genotype (P = 0.06). Interestingly, subjects with eNOS a/b genotype showed a significant inverse correlation between framingham risk score and EPC numbers (R = ?0.57, P < 0.05). The study suggests that the presence of CVD risk factors in subjects with eNOS intron 4 polymorphism results in reduced number of circulating EPCs, which may significantly predispose them to CVD and aberrant endothelial repair.  相似文献   

9.
X-ray repair cross-complementing group 1 (XRCC1) plays a key role in the base excision repair pathway, as a scaffold protein that brings together proteins of the DNA repair complex. Several studies have reported contradictory results for XRCC1 exon 6 C>T (rs1799782) gene polymorphism and cancer risk in Indian population has provided inconsistent results. Therefore, we have performed this meta-analysis to evaluate the relationship between XRCC1 exon 6 C>T gene polymorphism and risk of cancer by published studies. We searched PubMed and Google scholar web databases to cover all studies published on association between XRCC1 exon 6 C>T gene polymorphism and cancer risk. The meta-analysis was carried out and pooled odds ratios (ORs) and 95% confidence intervals (95% CIs) were used to appraise the strength of association. In order to derive a more precise estimation of the association, A total of 3197 confirmed cancer cases and 3819 controls were included from eligible seventeen case-controls studies. Results from overall pooled analysis demonstrated suggested that that variant allele (T vs. C: OR 1.301, 95% CI 1.003–1.688, p = 0.047) was associated with the risk of overall cancer. Other genetic models; heterozygous (TC vs. CC: OR 1.108, 95% CI 0.827–1.485, p = 0.491), homozygous (TT vs. CC: OR 1.479, 95% CI 0.877–2.493, p = 0.142), dominant (TT+TC vs. CC: OR 1.228, 95% CI 0.899–1.677, p = 0.196) and recessive (TT vs. TC+CC: OR 1.436, 95% CI 0.970–2.125, p = 0.071) did not reveal statistical association. Publication bias observation was also considered and none was detected during the analysis. The present meta-analysis suggested that the variant allele T of XRCC1 exon 6 gene polymorphism was associated with the risk of cancer. It is therefore pertinent to confirm this finding in a large sample size to divulge the mechanism of this polymorphism and cancer risk in Indian population.  相似文献   

10.
Atherosclerosis is a pathologic disorder which has an important role in the occurrence of coronary heart disease. It is determined as a focal, inflammatory proliferative response to several types of endothelial damage. Apolipoprotein B which is a requirement in the sustenance of cholesterol homeostasis, and is the major protein component of low density lipoprotein, characterized by multitude polymorphic sites, one of which (12669G>A) is related to the levels of serum lipid profiles, coronary artery disease and/or myocardial infarction. One Common polymorphism which is more important in this process is 12669G>A that is appraised in this research. We recruited 80 patients from the Mousavi hospital, Zanjan, Iran, diagnosed with coronary artery disease by the clinician on the basis of clinical symptoms, echocardiogram result, and angiography. Seventy-seven healthy individuals without any evident symptoms of Coronary stenosis and any past history of the disease were taken as controls from the general population. We carried out PCR using specific primers. Then, we digested PCR product by RFLP. Lipid parameters by biochemical methods and Apolipoprotein B serum level by immunoturbidometry method were done. Genotype frequencies for 12669G>A polymorphism were determined: 55 % R+R+, 45 % R+R? in case group, and 55.8 R+R+, 44.2 % R+R? in controls. The R?R? genotype was not seen. There was no significant relationship between this polymorphism and the risk of Coronary stenosis (P = 0.6). In the present study, higher plasma levels of cholesterol and low density lipoproteins in the subjects with R+R? genotype were found while there was no association between this polymorphism and coronary stenosis with ≥50 % in the Zanjan population.  相似文献   

11.
It is well known that dietary intakes play a pivotal role in pathogenesis of nonalcoholic fatty liver disease (NAFLD)/nonalcoholic steatohepatitis (NASH); however, the role of each component of diet has not yet been elucidated. Our objective was to evaluate the effects of onion consumption on prevention of NAFLD/NASH development. Sprague–Dawley rats were fed either high-fat, high sugar diet (model group), or high-fat, high sugar diet plus 7% onion powder (model + onion), or chow diet ad libitum for 7 weeks. Serum levels of fasting glucose, triglyceride, cholesterol, liver enzymes, insulin, and hepatic tumor necrosis factor-alpha (TNF-α) gene expression were determined. Hepatic histology was examined by H&E stain. Model + onion group had significantly lower hepatic steatosis, ballooning, lobular inflammation, and portal inflammation (p < 0.001), lower hepatic TNF-α gene expression (p < 0.001), lower plasma levels of ALT (p = 0.026), AST (p = 0.041), insulin (p < 0.001), TG (p = 0.041), and glucose (p = 0.009) compared with model group; however, weight gain, food intake, plasma total cholesterol and LDL levels were not significantly different between these two groups. Our data indicate that regular consumption of onion can prevent NAFLD even in the presence of the other risk factors such as obesity, hypercholesterolemia, and high energy, fat, and sugar intakes.  相似文献   

12.
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13.
Musa cavendish, peels has local and traditional use to promote wound healing, hyperglycemia, ulceration etc. The present work investigated the lipid lowering; nephroprotective and glucose lowering properties of ethanolic extract of peels of Musa cavendish (EMC) in alloxan-induced diabetic rats. The EMC 250, 500 and 1000 mg/kg/day and the vehicle were administered orally to alloxan-induced diabetic rats (n = 6) for 3 weeks. Changes in plasma glucose, lipid profile along with kidney function before and after treatment with EMC were recorded. The ethanolic extract of peels of Musa cavendish reduced blood glucose, serum triglyceride, cholesterol, LDL cholesterol and creatinine levels and improvement in body weight, liver glycogen, serum HDL cholesterol, serum albumin and total protein level when compared with untreated rats. Musa cavendish has lipid lowering, nephroprotective and antidiabetic property by regulating glucose uptake in the liver and muscles by restoring the intracellular energy balance.  相似文献   

14.
The present study was undertaken to evaluate antidiabetic and antioxidant activities of Cassia tora (C. tora) seeds extract against streptozotocin induced diabetes in experimental rats to scientifically validate its use against diabetes. Ethanolic extract of C. tora seeds extract and standard drug (glibenclamide) prepared in aqueous gum acacia (2 %, w/v) suspension and fed orally to streptozotocin induced male adult diabetic rats of Charles Foster strain for 15 days. Biochemical parameters in normal, diabetic control, standard (600 μg/kg bw p.o.) and treated (500 mg/kg bw p.o.) animal groups were quantified and compared. Treatment of streptozotocin induced diabetic rats with ethanolic seeds extract caused significant (p < 0.001) reduction in blood glucose (270–220 mg/dl), total cholesterol (140–104 mg/dl), triglyceride (149–99 mg/dl), phospholipids (100–74 mg/dl), free fatty acid (2.39–2.00 μmol/l), lipid peroxide (9–5.63 nmol MDA/dl) and significantly increased post heparin lipolytic activity (11–14 nmol FFA released/h/l plasma) (p < 0.001). Furthermore, the seeds extract (100–400 μg) when tested for its antioxidant activity in vitro, showed significant (p < 0.001) inhibition in the generation of super oxide anions in enzymic system a (46–37, 33, 23, 21 nmol uric acid formed/min), in enzymic system b (113–91, 77, 60, 51 nmol formazon formed/min), non-enzymic system (324–230, 211, 161, 141 nmol uric acid formed/min) and hydroxyl radicals in enzymic system (544–501, 411, 319, 291 nmol 2,3-dihydroxybenzoate formed/h) and non-enzymic system (28–21, 17, 14, 12). The results of the present study demonstrated antidiabetic, antidyslipidemic and antioxidant activities of C. tora seeds which could help in prevention of diabeticdyslipidemia and related complications.  相似文献   

15.
Dependence on alcohol, nicotine and duration of alcohol consumption are known to alter thyroid function tests. This study was conducted to assess the effect of interaction between the duration of alcohol consumption and alcohol dependence on TFT. The subjects consisted of 38 male patients with alcohol dependent syndrome co morbid with nicotine dependent syndrome, 33 male patients with alcohol dependent syndrome and 30 male normal healthy volunteers. Liver function tests, haematological parameters and thyroid function tests were assayed. Two way multivariate ANOVA was used to assess the interaction effect by SPSS 21 package. Multivariate analysis of combined TFT levels revealed no significant (P = .078) difference amongst groups based on alcohol dependence, significant difference (P = .001) amongst groups based on duration of alcohol consumption and no significant (P = .604) interaction effect between duration of alcohol consumption and alcohol dependence. Tests of between subject effects for individual TFT revealed significant (P = .014) difference in T3 between groups based on alcohol dependence, significant difference in the levels of fT4 (P = .001), T3 (P = .07) and T4 (P < .001) between groups based on duration of alcohol consumption was observed. Interaction between the effect of duration of alcohol consumption and alcohol dependence for individual TFT did not reveal any significance. fT4, TSH and T4 levels were significantly low in persons consuming alcohol for more than 20 years. TSH levels were significantly low in ADS compared to controls. Significant decrease in the levels of thyroid hormones was observed as the duration of alcohol consumption increased.  相似文献   

16.
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17.
The dopamine receptor-D4 and the dopamine transporter have been investigated for their role in attention deficit hyperactivity disorder (ADHD) in children. Reports of their genetic association with ADHD have shown mixed results. The aim of the study was to evaluate the association of variable number tandem repeats (VNTRs) of the DRD4 and DAT1 genes with ADHD in children. A pilot 1:1 case control study, with 44 clinically confirmed ADHD cases and 44 age/gender matched healthy controls, was conducted at a tertiary care centre in Mumbai. Variable number tandem repeats of DRD4 exon 3, DAT1 intron 8 and 3′UTR were genotyped by PCR-AGE. Several allele repeats of the genes were observed in the screened subjects. Statistical significance was observed for the 10R/10R genotype of the DAT1 3′UTR VNTR between cases and controls.  相似文献   

18.
Systemic Lupus Erythematosus is an autoimmune disease with female preponderance. Anemia is found in 50% of Systemic Lupus Erythematosus patients. This is a cross sectional case control study with 30 female Systemic Lupus Erythematosus patients having inflammation associated anemia (Hemoglobin < 10.0 gm/dl) and 30 age matched controls with the aim to measure serum hepcidin and ferritin levels, correlate and study their role as homeostatic regulators of iron metabolism and utility as markers. Serum transferrin, ferritin, iron, total iron binding capacity, hsCRP, liver enzymes and renal parameters were analyzed by using automated analyser. Hepcidin levels were estimated by Sandwich-ELISA method. There was significant decrease in Iron (p < 0.0001), Iron Binding capacity (p < 0.0001), Transferrin (p < 0.0001) in patients, and a significant increase in inflammatory markers: hs-CRP (p < 0.0001), ESR (p < 0.0001) compared to controls. Significant increase in both Hepcidin (p < 0.0001) and Ferritin (p < 0.0001) was observed in patients with significant positive correlation (r = 0.711) with each other. Additionally, ferritin and hepcidin significantly positively correlated with hs-CRP and ESR (r = 0.526, 0.735); (r = 0.427, 0.742) respectively. Negative correlation with hemoglobin, iron, total iron binding capacity and transferrin with hepcidin (r = ? 0.80, ? 0.307, ? 0.553, ? 0.584) and ferritin (r = ?0.722, ? 0.22, ? 0.654, ? 0.728) was observed respectively. On ROC analysis both hepcidin and ferritin has sensitivity of 96.7%, specificity of 100% at cut-off values of 110 and 49 respectively. AUC of hepcidin was 0.993 and ferritin was 0.978. We have established a positive linear correlation between Hepcidin and Ferritin levels in disease activity and the changes correlated with the inflammatory state and anemia in patients, making them important mediators and potential markers of inflammation associated anemia.  相似文献   

19.
Cardiovascular disease, as the leading cause of patient death with chronic kidney disease, could be predicted by carotid atherosclerosis. The aim of the present study was to evaluate a possible relationship between serum soluble tumor necrosis factor-like weak inducer of apoptosis (sTWEAK) and Vitamin D levels with mean right/left carotid intima-media thickness (cIMT), in the hemodialysis (HD) patients. In this cross-sectional study, serums were obtained from 50 stable chronic HD patients and 39 healthy controls. The serum levels of sTWEAK, Vitamin D, intact parathyroid hormone (iPTH) in both groups, and cIMT were determined in HD patients by standard methods. Serum levels of sTWEAK were higher [808.8 (521.6–5032.4) pg/ml vs. 664.4 (487.4–2955.8) pg/ml (p = 0.006)] and Vitamin D levels were lower [13.4 (2.5–153) ng/ml vs. 27.8 (18.4–59.0) ng/ml (p = 0.001)] in the hemodialysis patients than in the healthy control. No important correlation was found between sTWEAK Vitamin D levels (r = 0.010/p = 0.946), and mean right(r = ?0.194/p = 0.178) and left (r = 0.061/p = 0.673) cIMT in the HD patients. Our study shows that sTWEAK levels are elevated in HD patients. This elevation has no association with the cIMT.  相似文献   

20.
Pathogenesis of coronary artery disease (CAD) is multi-factorial and several conventional risk factors have been ascribed; LDL-C being one of the important risk factor. However Indian population studies with established CAD often show LDL levels within normal range in patients with proven CAD. We hypothesized that Small dense low density lipoprotein (sdLDL) being more atherogenic might correlate more strongly to the occurrence and severity of CAD. The aim of the study was to evaluate the association between serum small dense LDL level and angiographically documented coronary artery disease. This is a cross sectional case control study in which sdLDL were measured in 126 patients with CAD and in 64 patients without CAD. Total cholesterol, HDL Cholesterol, LDL cholesterol and triglycerides were measured by standard methods along with other traditional risk factors. Direct quantitative measurement of sdLDL was done by enzymatic analysis. Mean sdLDL level was higher in patients with coronary stenosis than patients without coronary stenosis (16.3 ± 6.8 vs. 10.1 ± 5.7 mg/dL respectively, (p < 0.001). There was significant correlation between mean sdLDL and severity of CAD as assessed by syntax score with mean sdLDL level in low, intermediate and high syntax score being 15.0 ± 5.8, 20.1 ± 6.7 and 22.7 ± 7.3 mg/dL respectively (p value <0.001). A cut off value of 10.02 mg/dL was associated with presence of CAD (95 % CI 0.82–0.93, p < 0.001) using ROC curve. In conclusion Indian patients with established CAD have higher sdLDL levels compared to individuals without CAD despite having comparable LDL levels.  相似文献   

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