Department Of Human Genetics And Molecular Medicine
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Item Role of TLR4 (C1196T) and CD14 (C-260T) Polymorphisms in Development of Ischemic Stroke, Its Subtypes and Hemorrhagic Stroke(Springer New York LLC, 2017) Das, Satrupa; Kaul, & Subhash; Jyothy, Akka; Munshi, AnjanaIn the present study, we evaluated the association of TLR4 and CD14 polymorphisms, i.e. C1196T and C-260T, respectively, with ischemic stroke (n?=?700), its subtypes and hemorrhagic stroke (n?=?300) in a South Indian population from Telangana. The genotypes were determined using PCR?RFLP, and the strength of association between genotypes and stroke was determined by odds ratio with 95% confidence interval (CI) and chi-square analysis. The results revealed a lack of association for TLR4 variant with ischemic stroke and hemorrhagic stroke, although a significant association was observed with the subtypes extracranial large artery (p?=?0.008), other determined aetiology (p?=?0.03) and undetermined aetiology (p?=?0.01). Investigations on the variant of CD14 gene revealed negative association among ischemic stroke patients; however, a significant association was observed for hemorrhagic stroke following dominant and recessive genotypic model (p?=?0.05, p?=?0.02). Among ischemic stroke subtype, a significant association was observed with intracranial large artery, extracranial large artery, other determined aetiology and undetermined aetiology form of stroke (p?Item Interleukin 1ß (+3954, -511 and -31) polymorphism in chronic periodontitis patients from North India(Informa Healthcare, 2015) Amirisetty, Ramesh; Patel, Ritu Prabha; Das, Satrupa; Saraf, Jitendra; Jyothy, Akka; Munshi, AnjanaObjective. Several studies have implicated the role of interleukin-1 in various chronic diseases including periodontitis. The present study was carried out with an aim to evaluate the role of interleukin 1? polymorphisms, namely +3954C/T, -511C/T and -31T/C, in the development of chronic periodontitis. Materials and methods. Twenty-nine chronic periodontitis patients and 31 healthy controls of North Indian origin from Chhattisgarh were recruited for the study. The genotypes for the three variants were determined using the PCR-RFLP technique and the strength of association between genotypes and periodontitis was determined by odds ratio with 95% confidence interval (CI) and chi-square analysis. Results. Analysis for the +3954 allelic and genotypic frequencies of the polymorphism revealed a significant difference in the CT genotype between periodontitits patients and controls (p = 0.03). A significant difference was also observed in the allelic frequencies between the two groups (p = 0.02). For the -511 site, TT genotype revealed a significant association with the disease (p = 0.01). A significant association was also found following the co-dominant model (p = 0.007). However, the -31 polymorphism revealed no significant difference between patients and controls. Conclusions. In conclusion, the present study suggests a strong association of the TT genotype of -511 and CT genotype of +3954 variant of interleukin 1? with chronic periodontitis. However, the -31 variant did not show a significant association with the disease. ? Informa Healthcare.Item GSTM1 and GSTT1 null polymorphism and antioxidant levels in oral submucous fibrosis, leukoplakia and oral cancer patients among a South Indian Population(Elsevier Ltd, 2018) Madhulatha, G.; Das, Satrupa; Venkateswarlu, N.; Pujar, , Akhilesh; Jyothy, Akka; Munshi, AnjanaObjective: We investigated the null polymorphism in GSTM1 and GSTT1 genes and the antioxidant levels in oral submucous fibrosis (OSMF), leukoplakia and oral cancer patients along with healthy controls in a South Indian cohort. Methods: Genotyping was done using multiplex PCR and the antioxidant levels were estimated using biochemical methods Association between genotypes and different diseased states was determined by odds ratio with 95% confidence interval (CI) and chi-square analysis and for antioxidant levels student's t-test was used. Results: The relative risk for GSTM1 and GSTT1 gene polymorphisms was statistically insignificant for the 3 patient groups vs. controls. Comparing the frequency of the null genotypes between the groups of patients only GSTM1 polymorphism revealed a significant difference between OSMF & oral cancer subjects (p = 0.02). Further, analysis of the antioxidant parameters shows ceruloplasmin levels to be significantly elevated between patient groups and controls and among OSMF vs. cancer patients (p < 0.05). Similarly, malondialdehyde and glutathione levels were found to be significantly elevated among cancer and both cancer and leukoplakia subjects respectively in comparison with controls (p < 0.05). Analysis between the patient groups revealed glutathione levels to be significantly elevated between OSMF vs. cancer patients and cancer vs. leukoplakia patients (p < 0.05). Conclusion: In conclusion, this study finds GSTM1 null genotype and antioxidants (ceruloplasmin and glutathione levels) to be significantly higher in oral cancers than in precancerous lesions, and suggesting that they might be associated with the malignant transformation of the oral precancers. ? 2017 Asian AOMS, ASOMP, JSOP, JSOMS, JSOM, and JAMIItem Association of APOE (E2, E3 and E4) gene variants and lipid levels in ischemic stroke, its subtypes and hemorrhagic stroke in a South Indian population(Elsevier Ireland Ltd, 2016) Das, Satrupa; Kaul, Subhash; Jyothy, Akka; Munshi, AnjanaIn the present study we evaluated the association of APOE (E2/E3/E4) polymorphism with ischemic stroke (n = 620), its subtypes and hemorrhagic stroke (n = 250) in a South Indian population from Telangana. The genotypes were determined using PCR-RFLP while lipid levels were measured using commercially available kits. We found significant difference in the genotypic distribution between hemorrhagic stroke patients and controls for certain genetic models [E2/E2 vs. E2/E4; E3/E3 vs. E2/E3; E3/E3 vs. E2/E4; E4/E4 vs. E2/E3; E4/E4 vs.E2/E4 and E3 vs. E4]. However, no significant difference was observed in genotypic distribution between ischemic stroke patients and controls. On analysing the genotypic distribution between ischemic and hemorrhagic stroke patients, statistically significant difference was observed in specific genetic models [E2/E2 vs. E2/E4; E3/E3 vs. E2/E3; E3/E3 vs. E2/E4; E4/E4 vs. E2/E3 and E4/E4 vs. E2/E4]. In ischemic stroke subtypes analysing for alleles E3 vs. E2 and E3 vs. E4, we found significant association with intracranial large artery (p = 0.01), cardioembolic stroke (p = 0.001 and p = 0.0004) and lacunar stroke (p = 0.02). Analysing the association of various genotypes with different lipid levels significant association was observed for VLDL (P = 0.000) and for triglyceride (P = 0.000) levels with E2/E4 and E3/E4 genotypes in ischemic stroke but not in hemorrhagic stroke. In conclusion, our results suggest that APOE polymorphism does seem to play a role in hemorrhagic stroke and also in the development of specific subtypes of ischemic stroke. Further, in ischemic stroke VLDL and triglycerides levels were found to be significantly associated with E2/E4 and E3/E4 genotypes. ? 2016 Elsevier Ireland Ltd.Item CRP Gene (1059G>C) Polymorphism and Its Plasma Levels in Ischemic Stroke and Hemorrhagic Stroke in a South Indian Population(Springer New York LLC, 2014) Das, Satrupa; Roy, Sitara; Kaul, Subhash; Jyothy, Akka; Munshi, AnjanaIn the present study, we evaluated the association of 1059G>C polymorphism in C-reactive protein (CRP) gene with the risk of ischemic and hemorrhagic strokes. We did not find a significant association of this polymorphism with stroke. However, 2?% of mutants were observed in hemorrhagic stroke patients with a 0.01 frequency for the C allele. We also estimated the high-sensitivity C-reactive protein (hsCRP) levels in hemorrhagic stroke and compared the levels with our already published data on ischemic stroke. The hsCRP level in hemorrhagic stroke was found to be significantly elevated in comparison with that in controls (p < 0.001). However, there was no difference in the mean value of hsCRP levels between types of stroke. In conclusion, the G>C polymorphism in the promoter region of the CRP gene is not abundant in the population and cannot be connected with different hsCRP levels and stroke prediction. The CRP level is a useful marker in stroke, but cannot help in differentiating between types of stroke. ? 2014, Springer Science+Business Media New York.Item E-selectin gene (S128R) polymorphism in hemorrhagic stroke: Comparison with ischemic stroke(Elsevier Ireland Ltd, 2014) Das, Satrupa; Roy, Sitara; Kaul, Subhash; Jyothy, Akka; Munshi, AnjanaIncreasing evidence suggests that genetic variation in inflammatory genes plays a pivotal role in pathogenesis of stroke. The aim of the present study was to evaluate the association of E-selectin S128R polymorphism with hemorrhagic stroke and also to evaluate the genotypic and allelic variation with ischemic stroke in a South Indian population from Andhra Pradesh. In this study, we recruited 250 hemorrhagic stroke patients along with 250 age and sex matched controls. The genotypes were determined using PCR-RFLP method and the strength of association between genotypes and hemorrhagic stroke was determined by odds ratio with 95% confidence interval (CI) and chi-square analysis. Allelic and genotypic frequencies of the polymorphism differed significantly between hemorrhagic stroke patients and controls (p < 0.001). Significant association was also found following dominant (p < 0.001) and co-dominant (p < 0.001) models. On comparing the genotypic and allelic frequencies between ischemic and hemorrhagic stroke significant difference was found between the two stroke types (p < 0.001). In conclusion, we found the AC genotype to be a significant risk factor for hemorrhagic stroke and we also found significant differences in AC genotype and C allele among the two stroke types. The genotypic and allelic variation between the ischemic and hemorrhagic stroke, suggests that E-selectin S128R mediated amplification of leukocytes onto endothelial cells, leading to secondary damage of brain cells is more pronounced in hemorrhagic stroke. ? 2014 Elsevier Ireland Ltd.Item MTHFR Gene (C677T) Polymorphism in Ischemic Stroke, its Subtypes and Hemorrhagic Stroke in a South Indian Population(2015) Das, Satrupa; Roy, Sitara; Kaul, Subhash; Jyothy, Akka; Munshi, AnjanaItem Association of ACE gene I/D polymorphism and ACE levels with hemorrhagic stroke: comparison with ischemic stroke(Springer-Verlag Italia s.r.l., 2015) Das, Satrupa; Roy, Sitara; Sharma,Vandana; Kaul, Subhash; Jyothy, Akka; Munshi, AnjanaIn the present study, we investigated the association of insertion/deletion polymorphism of ACE gene with genetic predisposition to hemorrhagic stroke and also determined the mean ACE activity levels in ischemic and hemorrhagic stroke patients. Two hundred hemorrhagic stroke, 200 ischemic stroke patients and 200 gender and age matched controls were recruited for the study. We found statistically significant difference in the genotypic distribution between hemorrhagic patients and controls for dominant, co-dominant and recessive models. Significant difference was observed in the allelic frequencies between hemorrhagic patients and controls. Multiple logistic regression analysis confirmed these findings [adjusted OR for DD genotype was 2.46 (95?% CI 1.43?4.21) and p?=?0.001] and [adjusted OR for ID genotype was 5.45 (95?% CI 2.6?10.4) and p?=?0.001]. We have already established the association of this polymorphism in ischemic stroke patients. Comparing hemorrhagic with ischemic stroke, we found a significant difference in genotypic distribution between the two [for II vs. DD, ?2?=?4.75; p?=?0.03, OR?=?0.5 (95?% CI 0.27?0.93) and for DD vs. ID, ?2?=?5.1; p?=?0.02, OR?=?1.8 (95?% CI 1.1?3.3)]. Our results indicate that DD genotype and D allele are important risk factors for the development of stroke. Individuals harboring DD genotype of ACE I/D polymorphism are more predisposed to hemorrhagic stroke than ischemic stroke. Further, the mean ACE activity level was found to be significantly higher in hemorrhagic and ischemic stroke in comparison with controls, but there was no significant difference in the levels found between the two types of stroke. ? 2014, Springer-Verlag Italia.Item Association of -1382A>G CCL11 gene variant with ischemic stroke, its subtypes and hemorrhagic stroke in a South Indian population(Medknow Publications, 2014) Roy, Sitara; Das, Satrupa; Munshi, Anjana; Kaul, Subhash; Jyothy, AkkaConclusion: The results of the present study show that the GG genotype is a significant risk factor for ischemic as well as hemorrhagic stroke. Further, the frequency of the GG genotype was observed to be higher in hemorrhagic stroke patients in comparison with ischemic stroke. Evaluating the association with ischemic stroke subtypes, a significant association was observed with intracranial large artery atherosclerosis and lacunar stroke.Background: CCL11 (Eotaxin-1) is an important inflammatory cytokine belonging to the CC family of chemokines associated with a number of infection or inflammation-related diseases such as atherosclerosis and stroke. We investigated the association of CCL11 gene polymorphism rs4795895-1382A>G with ischemic and hemorrhagic stroke.Materials and Methods: Six hundred and twenty ischemic stroke patients, 620 age- and sex-matched healthy controls, and 220 hemorrhagic stroke patients, 220 age- and sex-matched healthy controls were included in the present study. The CCL11 gene polymorphism rs4795895-1382A>G was determined using PCR-RFLP technique.Results: We found a statistically significant difference in the genotypic distribution between ischemic stroke patients and controls (For GG vs. AA, ?2= 7.604; P < 0.001, Odds ratio = 2.793; 95% CI = 1.308-5.9). For GG vs. AA + AG, ?2= 44.8, P < 0.001, Odds ratio = 2.382 (95% CI = 1.842-3.081). A significant difference was observed in the frequency of G and A alleles in patients and controls (For G vs. A, ?2= 43.26; P < 0.001, Odds ratio = 2.127; 95% CI = 1.693-2.672). Statistically significant difference was observed in the genotypic distribution between hemorrhagic stroke patients and controls (For GG vs. AG, ?2= 26.78; P = 0.001, Odds ratio = 3.5; 95% CI = 2.162-5.824). A significant difference was observed in the frequency of G and A alleles in patients and controls (For G vs. A, ?2= 41.98; P = 0.001, Odds ratio = 4.1; 95% CI = 2.61-6.44).Item Computer aided identification of sodium channel blockers in the clinical treatment of epilepsy using molecular docking tools(2015) Shaheen, Uzma; Jyothy, Akka; Hinore, Jitendra Singh; Girdhar, Amandeep; Bandaru, Srinivas; Sumithnath, Tharaparambil Gangadharan; Nayarisseri, Anuraj; Munshi, Anjana