Identification of Genetic Variants Associated With Myocardial Infarction in Saudi Arabia

Authors

  • Kamal W. Al-Ghalayini Department of Internal Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia
  • Mohammed A. Salama Princess Al Jawhara Albrahim Centre of Excellence in Research of Hereditary Disorders (PACER-HD), King Abdulaziz University, Jeddah, Saudi Arabia
  • Hadia Bassam Al Mahdi Princess Al Jawhara Albrahim Centre of Excellence in Research of Hereditary Disorders (PACER-HD), King Abdulaziz University, Jeddah, Saudi Arabia
  • Sameer Al-Harthi Department of Pharmacology, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia
  • Wesam A. Alhejily Department of Biological Sciences, Rabigh College of Science and Arts, King Abdulaziz University (KAU), Jeddah, Saudi Arabia
  • Mirvat A. Alasnag Department of Cardiology, King Fahd Armed Forces Hospital, Jeddah, Saudi Arabia http://orcid.org/0000-0002-8714-0334
  • Noura O. Tasbhji Princess Al Jawhara Albrahim Centre of Excellence in Research of Hereditary Disorders (PACER-HD), King Abdulaziz University, Jeddah, Saudi Arabia
  • Diana A.H. Al-Quwaie Department of Biological Sciences, Rabigh College of Science and Arts, King Abdulaziz University (KAU), Jeddah, Saudi Arabia
  • Panos Deloukas William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK
  • Sherif Edris Department of Biological Sciences, Science and Arts College, Rabigh Campus, King Abdulaziz University (KAU), Jeddah, Saudi Arabia

DOI:

https://doi.org/10.1532/hsf.2955

Keywords:

Coronary artery disease, genetic variant, myocardial infarction, Saudi Arabia, single nucleotide polymorphism.

Abstract

The genetic variants associated with various genetic disorders have not been identified decisively in Saudi Arabia. Among these variants, six known for their association with coronary artery disease or myocardial infarction (MI) were studied on Saudi patients. Reference single nucleotide polymorphisms (SNPs) of these variants are rs5174, rs11591147, rs2259816, rs111245230, rs3782886 and rs2259820, referring to genes LRP8, PCSK9, HNF1A, SVEP1, BRAP and HNF1A, respectively. The analysis employed polymerase chain reaction panel coupled with mini-sequencing
(SNapShot multiplex system) in order to identify these variants. A total of 100 MI patients and 103 healthy control individuals participated in this study. The six variants (SNPs) were evaluated for the risk of developing MI in the Saudi patients. Analysis of allele frequencies indicated that A allele of rs11591147 variant can be a protective allele, thus, is associated with the decreased risk of MI in Saudi individuals. Rare allele of rs111245230 variant (e.g., C allele) was extremely reduced, while rare allele of rs3782886 variant (e.g., G allele) does not exist in the ethnic signature of the Saudi population. This study elucidates the possible prediction of risk factors associated with severe diseases in Saudi population utilizing SNapShot multiplex system.

References

Almontashiri NAM, Vilmundarson RO, Ghasemzadeh N, Dandona S, Roberts R, Quyyumi AA, Stewart AFR. 2014. Plasma PCSK9 levels are elevated with acute myocardial infarction in two independent retrospective angiographic studies. PLoS One, 9(9), e106294.

Ben S, Cooper-DeHoff RM, Flaten HK, Evero O, Ferrara TM, Spritz RA, Monte AA. 2016. Multiplex SNaPshot—a new simple and efficient CYP2D6 and ADRB1 genotyping method. Human Genomics, 10(1), 11.

Cameron J, Holla ØL, Ranheim T, Kulseth MA, Berge KE, Leren TP. 2006. Effect of mutations in the PCSK9 gene on the cell surface LDL receptors. Human Molecular Genetics, 15(9), 1551–1558.

Ferreira LE, Secolin R, Lopes-Cendes I, Cabral NL, de França PHC. 2019. Association and interaction of genetic variants with occurrence of ischemic stroke among Brazilian patients. Gene.

Ghosh D, Gochhait S, Banerjee D, Chatterjee A, Sinha S, Nandagopal K. 2012. SNaPshot assay in quantitative detection of allelic nondisjunction in Down syndrome. Genetic Testing and Molecular Biomarkers, 16(10), 1226–1235.

Guella I, Asselta R, Ardissino D, Merlini PA, Peyvandi F, Kathiresan S, Duga S. 2010. Effects of PCSK9 genetic variants on plasma LDL cholesterol levels and risk of premature myocardial infarction in the Italian population. Journal of Lipid Research, 51(11), 3342–3349.

Isordia-Salas I, Alvarado-Moreno JA, Jiménez-Alvarado RM, Hernández-Juárez J, Santiago-Germán D, Leaños-Miranda A, Majluf-Cruz A. 2018. Association of renin–angiotensin system genes polymorphisms and risk of premature ST elevation myocardial infarction in young Mexican population. Blood Coagulation & Fibrinolysis, 29(3), 267-274.

Kashyap S, Kumar S, Agarwal V, Misra DP, Rai MK, Kapoor A. 2018. The association of polymorphic variants, rs2267788, rs1333049 and rs2383207 with coronary artery disease, its severity and presentation in North Indian population. Gene, 648, 89-96.

Kathiresan S, Voight BF, Purcell S, Musunuru K, Ardissino D, Mannucci PM, Schunkert H. 2009. Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nature Genetics, 41(3), 334–341.

Kleber ME, Grammer TB, Renner W, März W. 2010. Effect of the rs2259816 polymorphism in the HNF1A gene on circulating levels of c-reactive protein and coronary artery disease (the ludwigshafen risk and cardiovascular health study). BMC medical genetics, 11(1), 157.

Li Y, Xu X, Zhang D, Cheng W, Zhang Y, Yu B, Zhang Y. 2019. Genetic variation in the leukotriene pathway is associated with myocardial infarction in the Chinese population. Lipids in health and disease, 18(1), 25.

Lieb W, Zeller T, Mangino M, Götz A, Braund P, Wenzel JJ, Bruse P. 2008. Lack of association of genetic variants in the LRP8 gene with familial and sporadic myocardial infarction. Journal of molecular medicine, 86(10), 1163-1170.

Ma WQ, Wang Y, Han XQ, Zhu Y, Liu NF. 2018. Associations between LPL gene polymorphisms and coronary artery disease: evidence based on an updated and cumulative meta-analysis. Bioscience reports, 38(2), BSR20171642.

Maas A, Appelman YEA. 2010. Gender differences in coronary heart disease. Netherlands Heart Journal, 18(12), 598–603.

Matsuoka R, Abe S, Tokoro F, Arai M, Noda T, Watanabe S, Kato K. 2015. Association of six genetic variants with myocardial infarction. International journal of molecular medicine, 35(5), 1451-1459.

Nelson CP, Goel A, Butterworth AS, Kanoni S, Webb TR, Marouli E, Giannakopoulou O. 2017. Association analyses based on false discovery rate implicate new loci for coronary artery disease. Nature genetics, 49(9), 1385.

Nikpay M, Goel A, Won HH, Hall LM, Willenborg C, Kanoni S, Webb TR. 2015. A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease. Nature genetics, 47(10), 1121.

Ozaki, Kouichi, and Toshihiro T. 2016. Molecular genetics of coronary artery disease. Journal of human genetics 61(1), 71.

Shen GQ, Li L, Girelli D, Seidelmann SB, Rao S, Fan C, Hu Y. 2007. An LRP8 variant is associated with familial and premature coronary artery disease and myocardial infarction. The American Journal of Human Genetics, 81(4), 780–791.

Wang Y, Wang L, Liu X, Zhang Y, Yu L, Zhang F, Wang X. 2014. Genetic variants associated with myocardial infarction and the risk factors in Chinese population. PloS one, 9(1), e86332.

Yasukochi Y, Sakuma J, Takeuchi I, Kato K, Oguri M, Fujimaki T, Yamada Y. 2018. Six novel susceptibility loci for coronary artery disease and cerebral infarction identified by longitudinal exome‑wide association studies in a Japanese population. Biomedical reports, 9(2), 123-134.

Zaimkohan H, Keramatipour M, Ghaderian JT, Bazzaz AT, Piryaei M, Ghahhari NM, Ahani M. 2015. PCSK9 SNP RS11591147 association study with coronary artery disease risk in iran. Acta medica mediterranea, 31, 1435–1438.

Zhou YJ, Yin RX, Hong SC, Yang Q, Cao XL, Chen WX. 2017. Association of the HNF1A polymorphisms and serum lipid traits, the risk of coronary artery disease and ischemic stroke. The journal of gene medicine, 19(1-2), e2941.

Published

2020-07-23

How to Cite

AI-Ghalayini, K. W., Salama, M. A., Al Mahdi, H. B., Al-Harthi, S., Alhejily, W. A., Alasnag, M. A., Tasbhji, N. O., Al-Quwaie, D. A. H., Deloukas, P., & Edris, S. (2020). Identification of Genetic Variants Associated With Myocardial Infarction in Saudi Arabia. The Heart Surgery Forum, 23(4), E517-E523. https://doi.org/10.1532/hsf.2955

Issue

Section

Articles

Most read articles by the same author(s)