28 research outputs found

    Polymorphisms of MTHFR and MTR genes are not related to susceptibility to childhood ALL in north India

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    Background:Acute lymphoblastic leukemia (ALL) is the most worldwide common type of childhood cancer. Methylenetetrahydrofolate reductase (MTHFR) and 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR) participate in folate pathways and are known as critical factors for DNA integrity as well as DNA hypomethylation. The aim of this work is to investigate frequency of MTHFR (677C→T and 1298A→C) and MTR (2756A→G) polymorphisms and their interaction with respect to possible effect on risk of childhood ALL among North Indian population. Procedure: A case control study from has been conducted on bone marrow and peripheral blood samples from 125 ALL patients and 100 sex-age matched healthy controls using PCR-RFLP method. Results: No statistically significant differences were observed for different genotypes between patients and controls (p>0.05). Significant difference for the risk of ALL in individuals having genotype of MTHFR 677TT (OR=0.61, 95% CI=0.21–1.77) and MTHFR 1298CC (OR=0.56, 95% CI=0.18–1.68) was not observed. The correlation of SNP of MTR gene and risk of ALL was not observed, too. Conclusions: The differences in distribution of possible combined genotypes of MTHFR (677C→T, 1298A→C) and MTR (2756A→G) between ALL patients and controls were statistically insignificant

    Aberrant promoter hypermethylation of selected apoptotic genes in childhood acute lymphoblastic leukemia among north indian population

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    Promoter hypermethylation mediates gene silencing in many neoplasms. Acute leukemia has been reported to harbor multiple genes aberrantly silenced by hypermethylation. Aim: In present study, we investigated the prevalence of hypermethylation of caspase-8 (CASP8), TMS1 and DAPK genes in correlation with clinicopathological factors in childhood acute lymphoblastic leukemia (ALL). Materials and Methods: A case-control study has been conducted based on bone marrow and peripheral blood samples from 125 ALL patients and 100 sex-age matched healthy controls. Methylation specific polymerase chain reaction (PCR) and bisulfite sequencing PCR was performed to analyze the methylation status of these genes. Reverse transcription PCR and real time PCR was carried out to determine changes in the mRNA expression level of the genes due to hypermethylation. Results: Hypermethylation of the 5´CpG islands of the CASP8, TMS1 and DAPK gene promoters was found in 3.2, 6.4, and 13.6% of 125 childhood ALL samples from north Indian population, respectively. There were significant differences in pattern of hypermethylation of TMS1 (p = 0.045) and DAPK (p < 0.001) between patients and healthy controls. Down-regulation of mRNA expression was found in cases in which CASP8, TMS1 and DAPK were hypermethylated. Conclusions: The present study indicated the impact of hypermethylation-mediated inactivation of CASP8, TMS1 and DAPK genes, which is associated with risk of childhood ALL. This abnormality occurs in leukemogenesis and it may be used as a biomarker and for predicting the prognosis of ALL

    Genome-Wide Association Study for Type 2 Diabetes in Indians Identifies a New Susceptibility Locus at 2q21

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    Indians undergoing socioeconomic and lifestyle transitions will be maximally affected by epidemic of type 2 diabetes (T2D). We conducted a two-stage genome-wide association study of T2D in 12,535 Indians, a less explored but high-risk group. We identified a new type 2 diabetes–associated locus at 2q21, with the lead signal being rs6723108 (odds ratio 1.31; P = 3.32 3 1029 ). Imputation analysis refined the signal to rs998451 (odds ratio 1.56; P = 6.3 3 10212) within TMEM163 that encodes a probable vesicular transporter in nerve terminals. TMEM163 variants also showed association with decreased fasting plasma insulin and homeostatic model assessment of insulin resistance, indicating a plausible effect through impaired insulin secretion. The 2q21 region also harbors RAB3GAP1 and ACMSD; those are involved in neurologic disorders. Forty-nine of 56 previously reported signals showed consistency in direction with similar effect sizes in Indians and previous studies, and 25 of them were also associated (P , 0.05). Known loci and the newly identified 2q21 locus altogether explained 7.65% variance in the risk of T2D in Indians. Our study suggests that common susceptibility variants for T2D are largely the same across populations, but also reveals a population-specific locus and provides further insights into genetic architecture and etiology of T2D

    Letter To Editor - Mutational spectrum of thalassemias in India

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    Posterior urethral valves in patients with down syndrome

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    Not Available

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    A data center is a facility that centralizes an organization’s IT operations and equipment, and where it stores, manages, and disseminates its data. Data centers house a network’s most critical systems and are vital to the continuity of daily operations. Consequentially, the security and reliability of data centers and their information is a top priority for organizations. It consists of servers and storage equipment that run application software, process, store data and content. The data center environment is controlled in terms of temperature and humidity, both to ensure the performance and the operational integrity of the systems within. Facilities will generally include power supplies, backup power, chillers, cabling, fire and water detection systems, security controls etc.Not AvailableNIA

    ABERRANT PROMOTER HYPERMETHYLATION OF SELECTED APOPTOTIC GENES IN CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA AMONG NORTH INDIAN POPULATION

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    Promoter hypermethylation mediates gene silencing in many neoplasms. Acute leukemia has been reported to harbor multiple genes aberrantly silenced by hypermethylation. Aim: In present study, we investigated the prevalence of hypermethylation of caspase-8 (CASP8), TMS1 and DAPK genes in correlation with clinicopathological factors in childhood acute lymphoblastic leukemia (ALL). Materials and Methods: A case-control study has been conducted based on bone marrow and peripheral blood samples from 125 ALL patients and 100 sex-age matched healthy controls. Methylation specific polymerase chain reaction (PCR) and bisulfite sequencing PCR was performed to analyze the methylation status of these genes. Reverse transcription PCR and real time PCR was carried out to determine changes in the mRNA expression level of the genes due to hypermethylation. Results: Hypermethylation of the 5´CpG islands of the CASP8, TMS1 and DAPK gene promoters was found in 3.2, 6.4, and 13.6% of 125 childhood ALL samples from north Indian population, respectively. There were significant differences in pattern of hypermethylation of TMS1 (p = 0.045) and DAPK (p < 0.001) between patients and healthy controls. Down-regulation of mRNA expression was found in cases in which CASP8, TMS1 and DAPK were hypermethylated. Conclusions: The present study indicated the impact of hypermethylation-mediated inactivation of CASP8, TMS1 and DAPK genes, which is associated with risk of childhood ALL. This abnormality occurs in leukemogenesis and it may be used as a biomarker and for predicting the prognosis of ALL

    Not Available

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    Not AvailableUnder Cereal System Initiative for South Asia (CSISA), data on farmer’s current crop production practices called Landscape Diagnostic Survey (LDS) have been collected through Open Data Kit (ODK), an Android based digital data collection tool. LDS has so far been deployed in eight Indian states covering more than 100 districts for detailed diagnosis of current production practices and yields. These data are aggregated and stored at ICAR Data Centre of ICAR-Indian Agricultural Statistics Research Institute (IASRI). There were altogether 14491 data points including data from rice, wheat and maize crops. With these data, a dashboard has been created for showcasing information which can be used for further analysis. The dashboard is linked with Krishi Vigyan Kendra Knowledge Network or KVK Portal (ICAR-IASRI 2016) and hosted at https://kvk.icar.gov.in/CSISA.aspx. A number of reports, graphics and map views have been developed and integrated into this dashboard. In this chapter, the dashboard based on the production practices survey data of rice crop (number of data points = 6824) is discussed. This dashboard has been developed using ASP.NET framework 3.5 (Walther, 2011). For database designing and development, Microsoft SQL Server 2012 (LeBlanc, 2013) has been used.Not Availabl

    Congenital dyserythropoietic anemia type I

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