Identification of RPL5 gene variants and the risk of hepatic vein thrombosis in Saudi patients

Objectives: To identify ribosome protein L5 gene variants and the risk of hepatic vein thrombosis in Saudi patients. Methods: A case-control study was conducted during the period of May 2018 to September 2019. Sixty-five patient cases of hepatic vein thrombosis (HVT) were chosen, and 50 healthy individuals of the same ages and both gender were set as a control group. The genotype of the gene RPL5 was determined by PCR please provide abbreviation in full and capillary electrophoresis. Sanger sequencing for genetically screened variants was applied for the RPL5 gene. Results: Alleles A at variant rs182018447 and T allele at variant rs559377519 were strongly corelated (p=0.009 and p=0.037, respectively) with the risk of HVT. The genotype frequencies of the RPL5 gene, the A/A genotypes at rs182018447 and T/T at rs559377519 were associated with HVT (p=0.000 and p=0.004; respectively) and an increase in risk for HVT among these patients. Please rephrase the highlighted text without using the word respectively. Conclusion: Our findings indicate that the 5 genetic novel variants examined in the RPL5 gene were associated with a risk of HVT in all our Saudi cases. Additionally, the A/A at rs182018447 and T/T at rs559377519 genotypes were substantially susceptible to HVT in all these patients.

[1]  J. D. Díaz Arias,et al.  Detection of new drivers of frequent B-cell lymphoid neoplasms using an integrated analysis of whole genomes , 2021, PloS one.

[2]  Stephanie A. Santorico,et al.  Genome-wide copy number variations in a large cohort of bantu African children , 2020, bioRxiv.

[3]  S. Abou Elela,et al.  Regulation of ribosomal protein genes: An ordered anarchy , 2020, Wiley interdisciplinary reviews. RNA.

[4]  M. Polymenis.  Ribosomal proteins: mutant phenotypes by the numbers and associated gene expression changes , 2020, Open Biology.

[5]  S. Savage,et al.  Genotype-phenotype association and variant characterization in Diamond Blackfan anemia caused by pathogenic variants in RPL35A , 2020, Haematologica.

[6]  A. Tan,et al.  The Mutational Landscape of Mucosal Melanoma. , 2020, Seminars in cancer biology.

[7]  Audrey M. Michel,et al.  Computational methods for ribosome profiling data analysis , 2019, Wiley interdisciplinary reviews. RNA.

[8]  G. Garcia‐Tsao,et al.  Portal Hypertension: Pathogenesis and Diagnosis. , 2019, Clinics in liver disease.

[9]  J. Zavadil,et al.  Experimental identification of cancer driver alterations in the era of pan‐cancer genomics , 2019, Cancer science.

[10]  Ira M. Hall,et al.  Genomic Analysis in the Age of Human Genome Sequencing , 2019, Cell.

[11]  Sergey O Sulima,et al.  Ribosomal Lesions Promote Oncogenic Mutagenesis. , 2018, Cancer research.

[12]  P. Metharom,et al.  Cancer-Associated Thrombosis: An Overview of Mechanisms, Risk Factors, and Treatment , 2018, Cancers.

[13]  A. de Gottardi,et al.  Ultrasonography in Liver Vascular Disease , 2018, Ultraschall in der Medizin - European Journal of Ultrasound.

[14]  Weihua Jia,et al.  Germline Duplication of SNORA18L5 Increases Risk for HBV-related Hepatocellular Carcinoma by Altering Localization of Ribosomal Proteins and Decreasing Levels of p53. , 2018, Gastroenterology.

[15]  M. Loh,et al.  Clonal evolution mechanisms in NT5C2 mutant relapsed acute lymphoblastic leukemia , 2017, Nature.

[16]  Euan J. Rodger,et al.  Epigenetic drivers of tumourigenesis and cancer metastasis. , 2017, Seminars in cancer biology.

[17]  J. Meijerink,et al.  The T-cell leukemia associated ribosomal RPL10 R98S mutation enhances JAK-STAT signaling , 2017, Leukemia.

[18]  Arlen W. Johnson,et al.  Low frequency mutations in ribosomal proteins RPL10 and RPL5 in multiple myeloma , 2017, Haematologica.

[19]  A. Shaaban,et al.  A Comprehensive Approach to Hepatic Vascular Disease. , 2017, Radiographics : a review publication of the Radiological Society of North America, Inc.

[20]  Muhammad Khairul Ramlee,et al.  Using a Fluorescent PCR-capillary Gel Electrophoresis Technique to Genotype CRISPR/Cas9-mediated Knockout Mutants in a High-throughput Format. , 2017, Journal of visualized experiments : JoVE.

[21]  Laura Fancello,et al.  The ribosomal protein gene RPL5 is a haploinsufficient tumor suppressor in multiple cancer types , 2017, Oncotarget.

[22]  Hai Yang,et al.  Cancer driver gene discovery through an integrative genomics approach in a non‐parametric Bayesian framework , 2016, Bioinform..

[23]  J. Testa,et al.  Ribosomal Protein Rpl22 Controls the Dissemination of T-cell Lymphoma. , 2016, Cancer research.

[24]  K. Stamatopoulos,et al.  Whole-exome sequencing in relapsing chronic lymphocytic leukemia: clinical impact of recurrent RPS15 mutations. , 2016, Blood.

[25]  M. Lindström,et al.  Role of ribosomal protein mutations in tumor development (Review) , 2016, International journal of oncology.

[26]  Mirang Kim,et al.  Genomic and epigenomic heterogeneity in molecular subtypes of gastric cancer. , 2016, World journal of gastroenterology.

[27]  K. Stamatopoulos,et al.  Whole-exome sequencing in relapsing chronic lymphocytic leukemia : clinical impact of recurrent RPS 15 mutations , 2016 .

[28]  L. Aaltonen,et al.  High Frequency of RPL22 Mutations in Microsatellite‐Unstable Colorectal and Endometrial Tumors , 2014, Human mutation.