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SCN1A rs6732655A/T polymorphism:Diagnostic and therapeutic insights for drug-resistant epilepsy

World Journal of Experimental Medicine 2024年第3期14卷 72-79页

作者： Aroop Viswas Pradeep K Dabla Dharmsheel Shrivastav swapan gupta Manisha Yadav Subhash Yadav Bidhan Chandra Koner Department of Biochemistry Govind Ballabh Pant Institute of Postgraduate Medical Education and ResearchNew Delhi 110002DelhiIndia Department of Neurology Govind Ballabh Pant Institute of Postgraduate Medical Education and ResearchNew Delhi 110002DelhiIndia Multi-disciplinary Research Unit Maulana Azad Medical CollegeNew Delhi 110002DelhiIndia Department of Biotechnology Amity University GwaliorGwalior 474005Madhya PradeshIndia Department of Biochemistry Maulana Azad Medical CollegeNew Delhi 110002DelhiIndia

BACKGROUND A significant subset of individuals with epilepsy fails to respond to currently available antiepileptic drugs,resulting in heightened mortality rates,psychosocial challenges,and a diminished quality of *** factors,particularly within the SCN1A gene,and the pro-inflammatory cytokine response is important in intricating the drug resistance in idiopathic epilepsy *** this extended study,we determined the correlation of rs6732655A/T single nucleotide polymorphism to understand the causative association of SCN1A gene with epilepsy drug resistance and inflammatory *** To find the correlation of SCN1A gene rs6732655A/T polymorphism with the drug-resistant epilepsy and inflammatory *** The study enrolled 100 age and sex-matched patients of both drug-resistant and drug-responsive epilepsy *** analysed the rs6732655A/T polymorphism to study its association and causative role in drug-resistant epilepsy cases using restriction fragment length polymorphism *** diagnostic performance of interleukin(IL)-1β,IL-6,and high mobility group box 1(HMGB1)protein levels was evaluated in conjunction with genotypic outcome receiver operating characteristic *** AT and AA genotypes of rs6732655 SCN1A gene polymorphism were associated with higher risk of drug resistance *** biomarkers IL-6,IL1βand HMGB1 demonstrated diagnostic potential,with cutoff values of 4.63 pg/mL,59.52 pg/mL and 7.99 ng/mL,respectively,offering valuable tools for epilepsy ***,specific genotypes(AA and AT)were found to be linked to the elevated levels of IL-1βand IL-6 and potentially reflecting increased oxidative stress and neuro-inflammation in drug-resistant cases supporting the previous reported outcome of high inflammatory markers response in drug resistance *** SCN1A genotypes AA and AT are linked to higher drug-resistant epilepsy *** findings underscore the potential influence of inflammation

关键词： Epilepsy Drug resistance SCN1A gene Pro-inflammatory cytokines Genetic factors

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Polymorphism of Renalase Gene in Patients of Chronic Kidney Disease

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Open Journal of Nephrology 2012年第4期2卷 136-143页

作者： Ravinder Singh Ahlawat swapan gupta Seema Kapoor Premashish Kar Department of Medicine Maulana Azad Medical College New Delhi India Department of Medicine Nephrology Division Maulana Azad Medical College New Delhi India Department of Pediatrics and Molecular Genetics Maulana Azad Medical College New Delhi India

Introduction: Chronic kidney disease (CKD) is an important public health problem. Early detection and treatment is a key factor for prevention of its complications. Hypertensive nephrosclerosis is a subtype of CKD which has a poor correlation between hypertension and development of nephropathy, implying role of genetic factors or epigenetic factors. The knowledge regarding genetic factors is limited. Renalase is a novel hormone with its gene on chromosome 10, which secretes flavin adenine dinucleotide dependent amine oxidase. Renalase metabolizes circulating catecholamines and modulates blood pressure and cardiac function. Recently, two single nucleotide polymorphisms of renalase gene rs2576178 GG and rs2296545 CC have been linked to essential hypertension. The SNPrs2296545 CC is also shown to be associated with cardiac hypertrophy, dysfunction and ischemia. The association of these two single nucleotide polymorphisms with hypertensive nephrosclerosis has not been investigated. Methods: We designed a case-control study to investigate whether the two known renalase gene polymorphisms rs2576178 and rs2296545 are associated with CKD particularly hypertensive nephrosclerosis. We genotyped these two polymorphisms in 287 subjects from North Indian population (106 CKD cases and 181 controls). Results: Comparison shows that subjects with hypertensive nephrosclerosis had higher frequencies of rs2296545 Callele than the healthy controls (0.63 versus 0.47, p 0.02). The odds ratio for rs2296545 CC genotype in hypertensive nephrosclerosis were 2.55 (95% CI, 1.03 to 6.42;p = 0.02) (CC versus GG) and 2.11(95% CI, 1.01 to 4.42;p = 0.03) (CC versus CG + GG) compared to controls. Conclusion: These findings may provide novel insight into the role of additional genomic regions as susceptibility gene in the pathophysiology of hypertensive nephrosclerosis. Further, to account for geoethnic variation, studies on heterogeneous populations involving a larger sample size are required. The co

关键词： Chronic Kidney Disease (CKD) Hypertension Hypertensive Nephrosclerosis Renalase Single Nucleotide Polymorphisms (SNP) End Stage Renal Disease (ESRD)

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