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Research ArticleOriginal Article
Open Access

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

Fathelrahman M. Hassan, Afnan A. Alsultan, Faisal Alzahrani, Waleed H. Albuali, Dalal K. Bubshait, Elfadil M. Abass, Mudathir A. Elbasheer and Abdulmohsen A. Alkhanbashi
Saudi Medical Journal September 2021, 42 (9) 969-974; DOI: https://doi.org/10.15537/smj.2021.42.9.20210240
Fathelrahman M. Hassan
From the Department of Clinical Laboratory Sciences (Hassan, Alsultan, Alzahrani, Abass, Elbasheer, Alkhanbashi), College of Applied Medical Sciences; and from the Department of Pediatrics (Albuali, Bubshait), College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Kingdom of Saudi Arabia.
MSc, PhD
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  • For correspondence: [email protected]
Afnan A. Alsultan
From the Department of Clinical Laboratory Sciences (Hassan, Alsultan, Alzahrani, Abass, Elbasheer, Alkhanbashi), College of Applied Medical Sciences; and from the Department of Pediatrics (Albuali, Bubshait), College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Kingdom of Saudi Arabia.
MSc, PhD
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Faisal Alzahrani
From the Department of Clinical Laboratory Sciences (Hassan, Alsultan, Alzahrani, Abass, Elbasheer, Alkhanbashi), College of Applied Medical Sciences; and from the Department of Pediatrics (Albuali, Bubshait), College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Kingdom of Saudi Arabia.
MSc, PhD
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Waleed H. Albuali
From the Department of Clinical Laboratory Sciences (Hassan, Alsultan, Alzahrani, Abass, Elbasheer, Alkhanbashi), College of Applied Medical Sciences; and from the Department of Pediatrics (Albuali, Bubshait), College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Kingdom of Saudi Arabia.
BSc, MD
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Dalal K. Bubshait
From the Department of Clinical Laboratory Sciences (Hassan, Alsultan, Alzahrani, Abass, Elbasheer, Alkhanbashi), College of Applied Medical Sciences; and from the Department of Pediatrics (Albuali, Bubshait), College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Kingdom of Saudi Arabia.
BSc, MD
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Elfadil M. Abass
From the Department of Clinical Laboratory Sciences (Hassan, Alsultan, Alzahrani, Abass, Elbasheer, Alkhanbashi), College of Applied Medical Sciences; and from the Department of Pediatrics (Albuali, Bubshait), College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Kingdom of Saudi Arabia.
MSc, MD
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Mudathir A. Elbasheer
From the Department of Clinical Laboratory Sciences (Hassan, Alsultan, Alzahrani, Abass, Elbasheer, Alkhanbashi), College of Applied Medical Sciences; and from the Department of Pediatrics (Albuali, Bubshait), College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Kingdom of Saudi Arabia.
BSc, MSc
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Abdulmohsen A. Alkhanbashi
From the Department of Clinical Laboratory Sciences (Hassan, Alsultan, Alzahrani, Abass, Elbasheer, Alkhanbashi), College of Applied Medical Sciences; and from the Department of Pediatrics (Albuali, Bubshait), College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Kingdom of Saudi Arabia.
BSc
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References

  1. 1.↵
    1. Rajasekhar A,
    2. Zumberg M.
    Consultative hemostasis and thrombosis (Fourth Edition): venous thromboses at unusual sites. Elsevier 2019; 300–337.
  2. 2.↵
    1. Elsayes KM,
    2. Shaaban AM,
    3. Rothan SM,
    4. Javadi S,
    5. Madrazo BL,
    6. Castillo RP, et al.
    A comprehensive approach to hepatic vascular disease. Radiographics 2017; 37: 813–836.
    OpenUrl
  3. 3.↵
    1. De Gottardi A,
    2. Berzigotti A,
    3. Buscarini E,
    4. García Criado A.
    Ultrasonography in liver vascular disease. Ultraschall Med 2018; 39: 382–405.
    OpenUrl
  4. 4.↵
    1. Turco L,
    2. Garcia-Tsao G.
    Portal hypertension: pathogenesis and diagnosis. Clin Liver Dis 2019; 23: 573–587.
    OpenUrl
  5. 5.↵
    1. Gianferante MD,
    2. Wlodarski MW,
    3. Atsidaftos E,
    4. Da Costa L,
    5. Delaporta P,
    6. Farrar JE, et al.
    Genotype-phenotype association and variant characterization in diamond-blackfan anemia caused by pathogenic variants in RPL35A. Haematologica 2021; 106: 1303–1310.
    OpenUrl
  6. 6.↵
    1. Kiniry SJ,
    2. Michel AM,
    3. Baranov PV.
    Computational methods for ribosome profiling data analysis. Wiley Interdiscip Rev RNA 2020; 11: e1577.
    OpenUrl
  7. 7.↵
    1. Girardi T,
    2. Vereecke S,
    3. Sulima SO,
    4. Khan Y,
    5. Fancello L,
    6. Briggs JW, et al.
    The t-cell leukemia-associated ribosomal RPL10 R98S mutation enhances JAK-STAT signaling. Leukemia 2018; 32: 809–819.
    OpenUrlCrossRef
  8. 8.
    1. Rao S,
    2. Cai KQ,
    3. Stadanlick JE,
    4. Greenberg-Kushnir N,
    5. Solanki-Patel N,
    6. Lee SY, et al.
    Ribosomal protein Rpl22 controls the dissemination of t-cell lymphoma. Cancer Res 2016; 76: 3387–3396.
    OpenUrlAbstract/FREE Full Text
  9. 9.
    1. Tzoneva G,
    2. Dieck CL,
    3. Oshima K,
    4. Ambesi-Impiombato A,
    5. Sánchez-Martín M,
    6. Madubata CJ, et al.
    Clonal evolution mechanisms in NT5C2 mutant-relapsed acute lymphoblastic leukaemia. Nature 2018; 553: 511–514.
    OpenUrlCrossRefPubMed
  10. 10.
    1. Mosquera Orgueira A,
    2. Ferreiro Ferro R,
    3. Díaz Arias JÁ,
    4. Aliste Santos C,
    5. Antelo Rodríguez B,
    6. Bao Pérez L, et al.
    Detection of new drivers of frequent B-cell lymphoid neoplasms using an integrated analysis of whole genomes. PLoS One 2021; 16: e0248886.
    OpenUrl
  11. 11.↵
    1. Ljungström V,
    2. Cortese D,
    3. Young E,
    4. Pandzic T,
    5. Mansouri L,
    6. Plevova K, et al.
    Whole-exome sequencing in relapsing chronic lymphocytic leukemia: clinical impact of recurrent RPS15 mutations. Blood 2016; 127: 1007–1016.
    OpenUrl
  12. 12.↵
    1. Chatterjee A,
    2. Rodger EJ,
    3. Eccles MR.
    Epigenetic drivers of tumourigenesis and cancer metastasis. Semin Cancer Biol 2018; 51: 149–159.
    OpenUrlCrossRefPubMed
  13. 13.
    1. Korenjak M,
    2. Zavadil J.
    Experimental identification of cancer driver alterations in the era of pan-cancer genomics. Cancer Sci 2019; 110: 3622–3629.
    OpenUrlCrossRef
  14. 14.
    1. Yang H,
    2. Wei Q,
    3. Zhong X,
    4. Yang H,
    5. Li B.
    Cancer driver gene discovery through an integrative genomics approach in a non-parametric Bayesian framework. Bioinformatics 2017; 33: 483–490.
    OpenUrl
  15. 15.
    1. Ferreira AM,
    2. Tuominen I,
    3. van Dijk-Bos K,
    4. Sanjabi B,
    5. van der Sluis T,
    6. van der Zee AG, et al.
    High frequency of RPL22 mutations in microsatellite-unstable colorectal and endometrial tumors. Hum Mutat 2014; 35: 1442–1445.
    OpenUrlCrossRefPubMed
  16. 16.
    1. Goudarzi KM,
    2. Lindström MS.
    Role of ribosomal protein mutations in tumor development (review). Int J Oncol 2016; 48: 1313–1324.
    OpenUrlCrossRefPubMed
  17. 17.↵
    1. Lim B,
    2. Kim JH,
    3. Kim M,
    4. Kim SY.
    Genomic and epigenomic heterogeneity in molecular subtypes of gastric cancer. World J Gastroenterol 2016; 22: 1190–1201.
    OpenUrl
  18. 18.↵
    1. Fancello L,
    2. Kampen KR,
    3. Hofman IJ,
    4. Verbeeck J,
    5. De Keersmaecker K.
    The ribosomal protein gene RPL5 is a haploinsufficient tumor suppressor in multiple cancer types. Oncotarget 2017; 8: 14462–14478.
    OpenUrlCrossRefPubMed
  19. 19.↵
    1. Abdol Razak NB,
    2. Jones G,
    3. Bhandari M,
    4. Berndt MC,
    5. Metharom P.
    Cancer-associated thrombosis: an overview of mechanisms, risk factors, and treatment. Cancers (Basel) 2018; 10: 380.
  20. 20.↵
    1. Ramlee MK,
    2. Wang J,
    3. Cheung AMS,
    4. Li S.
    Using a fluorescent PCR-capillary gel electrophoresis technique to genotype CRISPR/Cas9-mediated knockout mutants in a high-throughput format. J Vis Exp 2017; 55586.
  21. 21.↵
    1. Lappalainen T,
    2. Scott AJ,
    3. Brandt M,
    4. Hall IM.
    Genomic analysis in the age of human genome sequencing. Cell 2019; 177: 70–84.
    OpenUrlCrossRefPubMed
  22. 22.↵
    1. Yilmaz F,
    2. Null M,
    3. Astling D,
    4. Yu HC,
    5. Cole J,
    6. Santorico SA, et al.
    Genome-wide copy number variations in a large cohort of bantu African children. BMC Med Genomics 2021; 14: 129.
    OpenUrl
  23. 23.↵
    1. Petibon C,
    2. Malik Ghulam M,
    3. Catala M,
    4. Abou Elela S.
    Regulation of ribosomal protein genes: an ordered anarchy. Wiley Interdiscip Rev RNA 2021; 12: e1632.
    OpenUrl
  24. 24.↵
    1. Cao P,
    2. Yang A,
    3. Wang R,
    4. Xia X,
    5. Zhai Y,
    6. Li Y, et al.
    Germline duplication of SNORA18L5 increases risk for HBV-related hepatocellular carcinoma by altering localization of ribosomal proteins and decreasing levels of p53. Gastroenterology 2018; 155: 542–556.
    OpenUrl
  25. 25.↵
    1. Sulima SO,
    2. Kampen KR,
    3. Vereecke S,
    4. Pepe D,
    5. Fancello L,
    6. Verbeeck J, et al.
    Ribosomal lesions promote oncogenic mutagenesis. Cancer Res 2019; 79: 320–327.
    OpenUrlAbstract/FREE Full Text
  26. 26.↵
    1. Fancello L,
    2. Kampen KR,
    3. Hofman IJ,
    4. Verbeeck J,
    5. De Keersmaecker K.
    The ribosomal protein gene RPL5 is a haploinsufficient tumor suppressor in multiple cancer types. Oncotarget 2017; 8: 14462–14478.
    OpenUrlCrossRefPubMed
  27. 27.↵
    1. Hofman IJF,
    2. Patchett S,
    3. van Duin M,
    4. Geerdens E,
    5. Verbeeck J,
    6. Michaux L, et al.
    Low frequency mutations in ribosomal proteins RPL10 and RPL5 in multiple myeloma. Haematologica 2017; 102: e317–e320.
    OpenUrlFREE Full Text
  28. 28.↵
    1. Polymenis M.
    Ribosomal proteins: mutant phenotypes by the numbers and associated gene expression changes. Open Biol 2020; 10: 200114.
    OpenUrl
  29. 29.↵
    1. Ljungström V,
    2. Cortese D,
    3. Young E,
    4. Pandzic T,
    5. Mansouri L,
    6. Plevova K, et al.
    Whole-exome sequencing in relapsing chronic lymphocytic leukemia: clinical impact of recurrent RPS15 mutations. Blood 2016; 127: 1007–1016.
    OpenUrl
  30. 30.
    1. Nassar KW,
    2. Tan AC.
    The mutational landscape of mucosal melanoma. Semin Cancer Biol 2020; 61: 139–148.
    OpenUrl
  31. 31.↵
    1. Fancello L,
    2. Kampen KR,
    3. Hofman IJ,
    4. Verbeeck J,
    5. De Keersmaecker K.
    The ribosomal protein gene RPL5 is a haploinsufficient tumor suppressor in multiple cancer types. Oncotarget 2017; 8: 14462–14478.
    OpenUrlCrossRefPubMed
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Identification of RPL5 gene variants and the risk of hepatic vein thrombosis in Saudi patients
Fathelrahman M. Hassan, Afnan A. Alsultan, Faisal Alzahrani, Waleed H. Albuali, Dalal K. Bubshait, Elfadil M. Abass, Mudathir A. Elbasheer, Abdulmohsen A. Alkhanbashi
Saudi Medical Journal Sep 2021, 42 (9) 969-974; DOI: 10.15537/smj.2021.42.9.20210240

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Identification of RPL5 gene variants and the risk of hepatic vein thrombosis in Saudi patients
Fathelrahman M. Hassan, Afnan A. Alsultan, Faisal Alzahrani, Waleed H. Albuali, Dalal K. Bubshait, Elfadil M. Abass, Mudathir A. Elbasheer, Abdulmohsen A. Alkhanbashi
Saudi Medical Journal Sep 2021, 42 (9) 969-974; DOI: 10.15537/smj.2021.42.9.20210240
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Keywords

  • RPL5 Gene
  • risk
  • liver
  • hepatic vein thrombosis
  • Saudi Arabia

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