CDKN2B-AS1 gene rs4977574 polymorphism in the severity of coronary artery disease in the Kazakh population

Askhat Myngbay 1 * , Serik Alibekov 2 *
More Detail
1 Science and Innovation Centre, Astana, Kazakhstan
2 Department for Science and Gerontology, Medical Centre Hospital of the President’s Affairs Administration of the Republic of Kazakhstan, Astana, Kazakhstan
* Corresponding Author
J CLIN MED KAZ, Volume 20, Issue 6, pp. 23-25. https://doi.org/10.23950/jcmk/13918
OPEN ACCESS 451 Views 433 Downloads
Download Full Text (PDF)

ABSTRACT

Coronary artery disease (CAD) is one of the leading diseases contributing to mortality. Although it has a hereditary nature, its genetic etiology remains unclear. Recently, many studies showed genetic risk factors using genome-wide association studies, and gene variant association with CAD. Despite the recent breakthroughs on various single nucleotide polymorphisms (SNP) linked to CAD, encompassing genes affecting metabolic disorders, influencing endothelial and smooth muscle dysfunctions, leading to plaque formation and myocardial infarction, most of those SNPs` functions remain to be pinpointed. Many studies showed significant associations between rs4977574 polymorphism of cyclin-dependent protein kinase inhibitors antisense RNA 1 (CDKN2B-AS1) gene on CAD in various ethnic groups. This review discusses the potential link between the CDKN2B-AS1 gene rs4977574 polymorphism and CAD in the Kazakh population.

CITATION

Myngbay A, Alibekov S. CDKN2B-AS1 gene rs4977574 polymorphism in the severity of coronary artery disease in the Kazakh population. J CLIN MED KAZ. 2023;20(6):23-5. https://doi.org/10.23950/jcmk/13918

REFERENCES

  • Dai X, Wiernek S, Evans JP, Runge MS. Genetics of coronary artery disease and myocardial infarction. World J Cardiol. 2016; 8:1–23. https://doi.org/10.4330/wjc.v8.i1.1
  • Jebari-Benslaiman S, Galicia-García U, Larrea-Sebal A, Olaetxea JR, Alloza I, Vandenbroeck K, et al. Pathophysiology of Atherosclerosis. Int J Mol Sci 2022; 23:3346. https://doi.org/10.3390/ijms23063346
  • Identification of genetic correlates of coronary artery disease in diverse ancestral populations. Nat. Med. 2022; 28(8):8. https://doi.org/10.1038/s41591-022-01915-y
  • Lorca R, Aparicio A, Salgado M, Álvarez-Velasco R, Pascual I, Gomez J, et al. Chromosome Y Haplogroup R Was Associated with the Risk of Premature Myocardial Infarction with ST-Elevation: Data from the CholeSTEMI Registry. J Clin Med. 2023; 12:4812. https://doi.org/10.3390/jcm12144812
  • Genetic risk and its role in primary prevention of CAD. n.d. URL: https://jtggjournal.com/article/view/5219 (Accessed 18 August 2023).
  • Malinowski D, Bochniak O, Luterek-Puszyńska K, Puszyński M, Pawlik A. Genetic Risk Factors Related to Coronary Artery Disease and Role of Transforming Growth Factor Beta 1 Polymorphisms. Genes. 2023; 14:1425. https://doi.org/10.3390/genes14071425
  • Deepak Roshan VG, Sinto MS, Vargees BT, Kannan S. Loss of CDKN2A and CDKN2B expression is associated with disease recurrence in oral cancer. J Oral Maxillofac Pathol JOMFP 2019; 23:82–9. https://doi.org/10.4103/jomfp.JOMFP_184_18
  • CDKN2B cyclin dependent kinase inhibitor 2B [Homo sapiens (human)] - Gene - NCBI. n.d. URL: https://www.ncbi.nlm.nih.gov/gene/1030 (Accessed 18 August 2023).
  • Brown VL, Harwood CA, Crook T, Cronin JG, Kelsell DP, Proby CM. p16INK4a and p14ARF Tumor Suppressor Genes Are Commonly Inactivated in Cutaneous Squamous Cell Carcinoma. J Invest Dermatol. 2004; 122:1284–92. https://doi.org/10.1111/j.0022-202X.2004.22501.x
  • Li Y, Wang H, Zhang Y. CDKN2B-AS1 gene rs4977574 A/G polymorphism and coronary heart disease: A meta-analysis of 40,979 subjects. J Cell Mol Med. 2021; 25:8877–89. https://doi.org/10.1111/jcmm.16849
  • Campa D, Capurso G, Pastore M, Talar-Wojnarowska R, Milanetto AC, Landoni L, et al. Common germline variants within the CDKN2A/2B region affect risk of pancreatic neuroendocrine tumors. Sci Rep. 2016; 6:39565. https://doi.org/10.1038/srep39565
  • Sakalar C, Gurbuz E, Kalay N, Kaya MG. Higher frequency of rs4977574 (the G Allele) on chromosome 9p21.3 in patients with myocardial infarction as revealed by PCR-RFLP analysis. Tohoku J Exp Med. 2013; 230:171–6. https://doi.org/10.1620/tjem.230.171
  • Hua L, Yuan J-X, He S, Zhao C-H, Jia Q-W, Zhang J, et al. Analysis on the polymorphisms of site RS4977574, and RS1333045 in region 9p21 and the susceptibility of coronary heart disease in Chinese population. BMC Med Genet. 2020; 21:36. https://doi.org/10.1186/s12881-020-0965-x
  • Samani NJ, Erdmann J, Hall AS, Hengstenberg C, Mangino M, Mayer B, et al. Genomewide association analysis of coronary artery disease. N Engl J Med. 2007; 357:443–53. https://doi.org/10.1056/NEJMoa072366
  • Taizhanova D, Toleuova A, Babenko D, Turmuhambetova A, Bodaubay R, Visternichan O, et al. Genetic markers of the risk of coronary heart disease and coronary artery thrombosis developing in the Kazakh population. Casp J Intern Med. 2023; 14:249–56. https://doi.org/10.22088/cjim.14.2.249
  • Raushan K, Benberin V, Vochshenkova T, Babenko D, Sibagatova A. Association of 3 single nucleotide polymorphisms of the eighth chromosome with remodeling of the myocardium and carotid arteries in the Kazakh population. Medicine (Baltimore). 2021; 100:e24608. https://doi.org/10.1097/MD.0000000000024608
  • Kral BG, Mathias RA, Suktitipat B, Ruczinski I, Vaidya D, Yanek LR, et al. A common variant in the CDKN2B gene on chromosome 9p21 protects against coronary artery disease in Americans of African ancestry. J Hum Genet. 2011; 56:224–9. https://doi.org/10.1038/jhg.2010.171
  • Li J, Poi MJ, Tsai M-D. The Regulatory Mechanisms of Tumor Suppressor P16INK4A and Relevance to Cancer. Biochemistry. 2011; 50:5566–82. https://doi.org/10.1021/bi200642e
  • Zhang Z, Golomb L, Meyerson M. Functional genomic analysis of CDK4 and CDK6 gene dependency across human cancer cell lines. Cancer Res. 2022; 82:2171–84. https://doi.org/10.1158/0008-5472.CAN-21-2428
  • Lasek-Bal A, Kula D, Urbanek T, Puz P, Szymszal J, Jarzab M, et al. The Association of SNPs Located in the CDKN2B-AS1 and LPA Genes With Carotid Artery Stenosis and Atherogenic Stroke. Front Neurol. 2019; 10. https://doi.org/10.3389/fneur.2019.01170
  • Holdt LM, Hoffmann S, Sass K, Langenberger D, Scholz M, Krohn K, et al. Alu Elements in ANRIL Non-Coding RNA at Chromosome 9p21 Modulate Atherogenic Cell Functions through Trans-Regulation of Gene Networks. PLoS Genet. 2013; 9:e1003588. https://doi.org/10.1371/journal.pgen.1003588
  • Akbari Dilmaghnai N, Shoorei H, Sharifi G, Mohaqiq M, Majidpoor J, Dinger ME, et al. Non-coding RNAs modulate function of extracellular matrix proteins. Biomed Pharmacother. 2021; 136:111240. https://doi.org/10.1016/j.biopha.2021.111240
  • Qiao L, Wen yan X, Dou fei K, Yin D, Song hua W, Zhang na C, et al. Correlation Study Between CDKN2B-AS1 Gene Polymorphism and Female Premature Coronary Artery Disease Occurrence. Chin Circ J. 2017; 1154–7.
  • Bochenek G, Häsler R, Mokthari N-E, König I, Loos B, Rosenstiel P, et al. The Large Non-coding RNA ANRIL, which is Associated with Atherosclerosis, Periodontitis, and Several Forms of Cancer, regulates ADIPOR1, VAMP3, and C11ORF10. Hum Mol Genet. 2013; 22. https://doi.org/10.1093/hmg/ddt299
  • Bevan S, Traylor M, Adib-Samii P, Malik R, Paul NLM, Jackson C, et al. Genetic Heritability of Ischemic Stroke and the Contribution of Previously Reported Candidate Gene and Genomewide Associations. Stroke. 2012; 43:3161–7. https://doi.org/10.1161/STROKEAHA.112.665760
  • Huang Y, Ye H, Hong Q, Xu X, Jiang D, Xu L, et al. Association of CDKN2BAS polymorphism rs4977574 with coronary heart disease: a case-control study and a meta-analysis. Int J Mol Sci. 2014; 15:17478–92. https://doi.org/10.3390/ijms151017478