Human Genetics And Molecular Medicine - Research Publications

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    Shared and unique common genetic determinants between pediatric and adult celiac disease
    (BioMed Central Ltd., 2016) Senapati, S.; Sood, A.; Midha, V.; Sood, N.; Sharma, S.; Kumar, L.; Thelma, B.K.
    Background: Based on age of presentation, celiac disease (CD) is categorised as pediatric CD and adult CD. It however remains unclear if these are genetically and/or phenotypically distinct disorders or just different spectrum of the same disease. We therefore explored the common genetic components underlying pediatric and adult CD in a well characterized north Indian cohort. Methods: A retrospective analysis of children (n = 531) and adult (n = 871) patients with CD between January 2001 and December 2010 was done. The database included basic demographic characteristics, clinical presentations, associated diseases and complications, if any. The genotype dataset was acquired for children (n = 217) and adult CD patients (n = 340) and controls (n = 736) using Immunochip. Association analysis was performed using logistic regression model to identify susceptibility genetic variants. Results: The predominant form of CD was classical CD in both pediatric and adult CD groups. There was remarkable similarity between pediatric and adult CD except for quantitative differences between the two groups such as female preponderance, non-classical presentation, co-occurrence of other autoimmune diseases being more common amongst adult CD. Notably, same HLA-DQ2 and -DQ8 haplotypes were established as the major risk factors in both types of CD. In addition, a few suggestively associated (p < 5 ? 10-4) non-HLA markers were identified of which only ANK3 (rs4948256-A; rs10994257-T) was found to be shared and explain risk for ?45 % of CD patients with HLA allele. Discussion: Overall phenotypic similarity between pediatric and adult CD groups can be explained by contribution of same HLA risk alleles. Different non-HLA genes/loci with minor risk seem to play crucial role in disease onset and extra intestinal manifestation of CD. None of the non-HLA risk variants reached genome-wide significance, however most of them were shown to have functional implication to disease pathogenesis. Functional relevance of our findings needs to be investigated to address clinical heterogeneity of CD. Conclusions: This present study is the first comparative study based on common genetic markers to suggest that CD in pediatric age group and in adults are the spectrum of the same disease with novel and shared genetic risk determinants. Follow-up fine mapping studies with larger study cohorts are warranted for further genetic investigation. ? 2016 The Author(s).
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    Ring chromosome 22: A review of the literature and first report from India
    (2012) Mahajan, S.; Kaur, A.; Singh, Jai Roop
    Ring chromosome 22 [r(22)], a rare cytogenetic finding, has been described in nearly 70 cases to date. Cytogenetic investigations were carried out on a 5-year-old male child with microcephaly and intellectual disability. Cytogenetic investigations revealed his karyotype to be 46, XY, r(22). To the best of our knowledge, this is the first report of an r(22) anomaly from India.
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    Association of serum homocysteine and hs-CRP with idiopathic generalised epilepsy and duration of antiepileptic drug therapy
    (Journal of Clinical and Diagnostic Research, 2018) Prasad, D.K.V.; Satyanarayana, U.; Prabhakararao, T.S.; Surya Prabha, T.; Munshi, A.
    Introduction: Several human and experimental studies have revealed that chronic inflammation may play a vital role in neurodegenerative processes including epilepsy. There is accumulating evidence that inflammatory processes affect the pathophysiology of different epilepsy types. Aim: To assess the concentrations of Homocysteine (Hcy) and High Sensitivity C-Reactive Protein (hs-CRP) in Idiopathic Generalised Epilepsy (IGE) patients and their association with IGE and duration of the Anti Epileptic Drugs (AEDs). Materials and Methods: This case-control study consisted of 100 IGE patients (50 tonic?clonic, 15 absence and 35 myoclonic seizures) and equal number of healthy controls. Hcy levels were assayed by Centaur XP using ADVIA centaur Hcy; whereas hs-CRP levels by ELISA method using commercially available kits. Results: The Hcy and hs-CRP levels were significantly increased in both the patient groups (<18 years and >18 years). Significant difference in the levels of Hcy was observed between different epilepsy types of <18 years patients (p=0.01), whereas hs-CRP in >18 years patients (<0.05). Significantly elevated levels of hs-CRP were noticed in non-responders group compared to responders (<0.05). There was a positive correlation between hs-CRP and Hcy (R2=0.44 and p<0.001) and significant difference in the levels of Hcy and hs-CRP was observed in the patient subgroups who were on AEDs for different time periods (?1 year, 1- ?5 years and >5 years) (p=0.002 and p<0.05 respectively) since, AEDs can induce oxidative stress. Conclusion: Hyperhomocysteinaemia (Hyper-Hcy) can induce as well as promote oxidative stress and hence, it can be implicated in neurodegeneration in epilepsy. Elevated levels of hs-CRP in non-responders may be resulted by the contribution of inflammatory pathways in ictogenesis in epileptic tissue, causing intractable epilepsy. ? 2018, Journal of Clinical and Diagnostic Research. All rights reserved.