Arg4810Lys Mutation in RNF213 among Eastern Indian Non-MMD Ischemic Stroke Patients: A Genotype-Phenotype Correlation
Sadhukan, D.; Mitra, P.; Mishra, S.; Roy, A.; Podder, G.; Ray, B. K.; Biswas, A.; Hui, S. P.; Banerjee, T. K.; Biswas, A.
Show abstract
IntroductionRNF213 mutations have been reported mostly in Moyamoya Disease (MMD) with varying frequencies across different ethnicities. However, its prevalence in non-MMD adult-onset Ischemic Stroke is still not well explored. Aims & ObjectivesThis present study thus aims to screen the most common RNF213 variant (Arg4810Lys, among East Asians) in the Eastern Indian non-MMD Ischemic Stroke patients and correlate it with long-term progression and prognosis of the patients. The subjects were analysed for this variant using PCR-RFLP and confirmed using Sanger sequencing method. Result & ConclusionWe have identified Arg4810Lys variant among eleven young-onset familial Ischemic Stroke patients in heterozygous manner. A positive correlation of the variant with positive family history (P = 0.001), earlier age-at-onset (P = 0.002), history of recurrent stroke (P = 0.015) was observed. However, the carriers showed better cognitive performances in memory (P = 0.042) and executive function (P = 0.004). Therefore, we can conclude that Arg4810Lys/RNF213 - a pathogenic variant for young-onset familial Ischemic Stroke with higher incidence of recurrent events unlike in MMD cases, have no additional impact on cognition among Eastern Indians.
Matching journals
The top 7 journals account for 50% of the predicted probability mass.
Similar papers in this journal
- Coagulation abnormalities in children with uncorrected congenital heart defects seen at a teaching hospital in a developing country 95%
- Short report: Targeted analysis of whole exome sequencing data in Indian cryptogenic stroke patients 95%
- Prevalence and determinants of peripheral arterial disease in children with nephrotic syndrome 95%
Similar papers in this journal
- Association of non-HDL-C/apoB ratio with long-term mortality in the general population: a cohort study 92%
- Association of inferior division MCA stroke location with populations with atrial fibrillation incidence 92%
- Analysis of serum trace elements, macro-minerals, antioxidants, malondialdehyde and immunoglobulins in seborrheic dermatitis patients: A case-control investigation 92%
Similar papers in this journal
- Influence of Factor V Leiden mutation and Protein C/S deficiencies on preeclampsia among Sudanese women 95%
- Impact of Losartan on Portal hypertension and Liver Cirrhosis: A Systematic Review 94%
- Factors Associated with Delayed Hospital Arrival after Stroke Onset: An Observational Study in Thanh Hoa Province, Vietnam 94%
Similar papers in this journal
- Induction of p73, Δ133p53, Δ160p53, pAKT leads to neuroprotection via DNA repair by 5-LOX inhibition 92%
- MAP Kinase and mammalian target of rapamycin are main pathways of gallbladder carcinogenesis: Results from bioinformatic analysis of Next Generation Sequencing data from a hospital-based cohort. 92%
- A Rapid and Low-Cost protocol for the detection of B.1.1.7 lineage of SARS-CoV-2 by using SYBR Green-Based RT-qPCR 92%
Similar papers in this journal
- Extensive In Silico Analysis of the Functional and Structural Consequences of SNPs in Human ARX Gene 93%
- Finding Consensus miRNAs Silencing KLF1 Expression as A Promising Therapeutic Option of Sickle Cell Anemia 93%
- A Multiple Peptides Vaccine against nCOVID-19 Designed from the Nucleocapsid phosphoprotein (N) and Spike Glycoprotein (S) via the Immunoinformatics Approach 91%
"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.