scholarly journals Impact of the myosin heavy chain 9 gene single nucleotide polymorphism on inflammatory bowel disease

Author(s):  
eman badr ◽  
Ahmed Ezz El-Arab Abd Al-Aliem ◽  
Elsayed Ibrahem El-Shayeb ◽  
Ahmed Megahed Ahmed Taman ◽  
Abd El-naser Abd El-atty Gadallah

Abstract Background To date, the cause of inflammatory bowel disease (IBD) remains a mystery. A balance between cell proliferation and apoptosis maintains intestinal tissue homeostasis. Dissociation-induced myosin-actin contraction results in stem cell apoptosis. This study aiming to evaluate the influence of the myosin heavy chain 9 (MYH9) gene single nucleotide polymorphism (SNP) on inflammatory bowel disease. Subjects and methods: The study carried on eighty patients with IBD and seventy controls. All participants subjected to history taking, thorough physical examination examination, colonoscopy and laboratory investigations. Genotyping performed for rs3752462 and rs4821480 by SNP assay real-time PCR methods. Results On analyzing rs4821480, The TG and GG genotypes have significant increased distribution among the IBD patients as compared to the controls with 5.3 fold increase in the risk of IBD and higher prevalence of GG genotype in patients with low hemoglobin level and higher BMI. While on analyzing rs3753462 CT and TT genotypes were significantly more frequent in the in the IBD patients as compared to the controls with 4.6 fold increase in the risk of IBD. Conclusion The allele G of rs4821480 and T of rs3753462 of MYH9 gene associated with more susceptibility to IBD.

2021 ◽  
Vol 28 ◽  
pp. 101113
Author(s):  
Ahmed Ezz El-Arab Abd Al-Aliem ◽  
Eman A.E. Badr ◽  
Elsayed Ibrahem El-Shayeb ◽  
Ahmed Megahed Ahmed Taman ◽  
Abd El-naser Abd El-atty Gadallah

2008 ◽  
Vol 134 (4) ◽  
pp. A-459
Author(s):  
Stephan L. Haas ◽  
Andreas Ruether ◽  
Manfred V. Singer ◽  
Stefan Schreiber ◽  
Ulrich Böcker

2020 ◽  
Vol 14 (5) ◽  
pp. 646-653
Author(s):  
Christopher J Cardinale ◽  
Michael E March ◽  
Xiang Lin ◽  
Yichuan Liu ◽  
Lynn A Spruce ◽  
...  

Abstract Background and Aims Among the >240 genetic loci described to date which confer susceptibility to inflammatory bowel disease, a small subset have been fine-mapped to an individual, non-coding single nucleotide polymorphism [SNP]. To illustrate a model mechanism by which a presumed-causal non-coding SNP can function, we analysed rs1887428, located in the promoter region of the Janus kinase 2 [JAK2] gene. Methods We utilized comparative affinity purification-mass spectrometry, DNA–protein binding assays, CRISPR/Cas9 genome editing, transcriptome sequencing and methylome quantitative trait locus methods to characterize the role of this SNP. Results We determined that the risk allele of rs1887428 is bound by the transcription factor [TF] RBPJ, while the protective allele is bound by the homeobox TF CUX1. While rs188748 only has a very modest influence on JAK2 expression, this effect was amplified downstream through the expression of pathway member STAT5B and epigenetic modification of the JAK2 locus. Conclusion Despite the absence of a consensus TF-binding motif or expression quantitative trait locus, we have used improved methods to characterize a putatively causal SNP to yield insight into inflammatory bowel disease mechanisms. Podcast This article has an associated podcast which can be accessed at https://academic.oup.com/ecco-jcc/pages/podcast


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