Biomedical Science Letters (대한의생명과학회지)

The Korean Society for Biomedical Laboratory Sciences (대한의생명과학회)
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Genetic Polymorphisms of ARMC4, LRP4 and BCL2 Genes are Associated with Blood Pressure Traits and Hypertension in Korean Population

  • Park, Hye-Jeong (Department of Biomedical Laboratory Science, College of Life and Health Sciences, Hoseo University) ;
  • Jeon, Tae-Eun (Department of Biomedical Laboratory Science, College of Life and Health Sciences, Hoseo University) ;
  • Kim, Yong-Seob (Department of Biomedical Laboratory Science, College of Life and Health Sciences, Hoseo University) ;
  • Jin, Hyun-Soek (Department of Biomedical Laboratory Science, College of Life and Health Sciences, Hoseo University) ;
  • Park, Sangjung (Department of Biomedical Laboratory Science, College of Life and Health Sciences, Hoseo University)
  • Received : 2020.01.29
  • Accepted : 2020.03.21
  • Published : 2020.03.31
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Abstract

High blood pressure (HTN) is a condition in which blood pressure is kept higher than normal. Blood pressure trait measures systolic blood pressure (SBP) which is the highest pressure and diastolic blood pressure (DBP) which is the lowest blood pressure. Pulse pressure (PP) is the difference between systolic and diastolic blood pressure. Hypertension is known as a disease caused by the interaction of the environment and genetic factors. To date, studies have been conducted to find genes associated with hypertension. Genome-Wide Association Study (GWAS) analysis using European data from the UK Biobank reported new 535 loci were associated with blood pressure trait. Among them, 12 genes have been reported to have a significant correlation with SBP, DBP and PP. In the study, 12 genes polymorphisms were extracted based on KARE (Korean association resource) and then we performed linear regression of blood pressure trait. As a result, 6 SNPs of the 3 genes (rs12355413 and rs11006736 of ARMC4, rs2290883, rs2290884 and rs11039014 of LRP4, rs7234941 of BCL2) showed statistically significant correlation (P<0.05) with blood pressure trait. Of the 3 genes, 6 SNPs in 2 genes (rs9651357, rs12355413, rs11006736, rs1889522 of ARMC4 and rs4987774, rs7234941 of BCL2) showed significant correlation with hypertension. These results suggest that genetic polymorphisms of ARMC4, LRP4 and BCL2 genes are associated with blood pressure traits and hypertension in Korean population. Moreover, we expected to help understand the pathogenesis of hypertension.

Keywords

References

  1. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2005. 21: 263-265. https://doi.org/10.1093/bioinformatics/bth457
  2. Chen SZ, Wang Z, Zhang LN, Lu GL, Zhou CM, Wang DW, Tang ZM, Wang L, Qin L, Zhai ZH. CAMK4 gene variation is associated with hypertension in a uygur population. Genetics and Molecular Research. 2016. 15: 10.4238/gmr.15017207.
  3. Cho YS, Go MJ, Kim YJ, Heo JY, Oh JH, Ban HJ, Yoon D, Lee MH, Kim DJ, Park M, Cha SH, Kim JW, Han BG, Min H, Ahn Y, Park MS, Han HR, Jang HY, Cho EY, Lee JE, Cho, NH, Shin C, Park T, Park JW, Lee JK, Cardon L, Clarke G, McCarthy MI, Lee JY, Lee JK, Oh B, Kim HL. A large-scale genome-wide association study of asian populations uncovers genetic factors influencing eight quantitative traits. Nature Genetics. 2009. 41: 527-534. https://doi.org/10.1038/ng.357
  4. Dlamini Z, Tshidino SC, Hull R. Abnormalities in alternative splicing of apoptotic genes and cardiovascular diseases. International Journal of Molecular Sciences. 2015. 16: 27171-27190. https://doi.org/10.3390/ijms161126017
  5. Dries DL, Victor RG, Rame JE, Cooper RS, Wu X, Zhu X, Leonard D, Ho SI, Wu Q, Post W, Drazner MH. Corin gene minor allele defined by 2 missense mutations is common in blacks and associated with high blood pressure and hypertension. Circulation. 2005. 112: 2403-2410. https://doi.org/10.1161/CIRCULATIONAHA.105.568881
  6. Escobar E. Hypertension and coronary heart disease. Journal of Human Hypertension. 2002. 16 Suppl 1: S61-63. https://doi.org/10.1038/sj.jhh.1001345
  7. Evangelou E, Warren HR, Mosen-Ansorena D, Mifsud B, Pazoki R, Gao H, Ntritsos G, Dimou N, Cabrera CP, Karaman I, Ng FL, Evangelou M, Witkowska K, Tzanis E, Hellwege JN, Giri A, Velez Edwards DR, Sun YV, Cho K, Gaziano JM, Wilson PWF, Tsao PS, Kovesdy CP, Esko T, Magi R, Milani L, Almgren P, Boutin T, Debette S, Ding J, Giulianini F, Holliday EG, Jackson AU, Li-Gao R, Lin WY, Luan J, Mangino M, Oldmeadow C, Prins BP, Qian Y, Sargurupremraj M, Shah N, Surendran P, Theriault S, Verweij N, Willems SM, Zhao JH, Amouyel P, Connell J, de Mutsert R, Doney ASF, Farrall M, Menni C, Morris AD, Noordam R, Pare G, Poulter NR, Shields DC, Stanton A, Thom S, Abecasis G, Amin N, Arking DE, Ayers KL, Barbieri CM, Batini C, Bis JC, Blake T, Bochud M, Boehnke M, Boerwinkle E, Boomsma DI, Bottinger EP, Braund PS, Brumat M, Campbell A, Campbell H, Chakravarti A, Chambers JC, Chauhan G, Ciullo M, Cocca M, Collins F, Cordell HJ, Davies G, de Borst MH, de Geus EJ, Deary IJ, Deelen J, Del Greco MF, Demirkale CY, Dorr M, Ehret GB, Elosua R, Enroth S, Erzurumluoglu AM, Ferreira T, Franberg M, Franco OH, Gandin I, Gasparini P, Giedraitis V, Gieger C, Girotto G, Goel A, Gow AJ, Gudnason V, Guo X, Gyllensten U, Hamsten A, Harris TB, Harris SE, Hartman CA, Havulinna AS, Hicks AA, Hofer E, Hofman A, Hottenga JJ, Huffman JE, Hwang SJ, Ingelsson E, James A, Jansen R, Jarvelin MR, Joehanes R, Johansson A, Johnson AD, Joshi PK, Jousilahti P, Jukema JW, Jula A, Kahonen M, Kathiresan S, Keavney BD, Khaw KT, Knekt P, Knight J, Kolcic I, Kooner JS, Koskinen S, Kristiansson K, Kutalik Z, Laan M, Larson M, Launer LJ, Lehne B, Lehtimaki T, Liewald DCM, Lin L, Lind L, Lindgren CM, Liu Y, Loos RJF, Lopez LM, Lu Y, Lyytikainen LP, Mahajan A, Mamasoula C, Marrugat J, Marten J, Milaneschi Y, Morgan A, Morris AP, Morrison AC, Munson PJ, Nalls MA, Nandakumar P, Nelson CP, Niiranen T, Nolte IM, Nutile T, Oldehinkel AJ, Oostra BA, O'Reilly PF, Org E, Padmanabhan S, Palmas W, Palotie A, Pattie A, Penninx BWJH, Perola M, Peters A, Polasek O, Pramstaller PP, Nguyen QT, Raitakari OT, Ren M, Rettig R, Rice K, Ridker PM, Ried JS, Riese H, Ripatti S, Robino A, Rose LM, Rotter JI, Rudan I, Ruggiero D, Saba Y, Sala CF, Salomaa V, Samani NJ, Sarin AP, Schmidt R, Schmidt H, Shrine N, Siscovick D, Smith AV, Snieder H, Sober S, Sorice R, Starr JM, Stott DJ, Strachan DP, Strawbridge RJ, Sundstrom J, Swertz MA, Taylor KD, Teumer A, Tobin MD, Tomaszewski M, Toniolo D, Traglia M, Trompet S, Tuomilehto J, Tzourio C, Uitterlinden AG, Vaez A, van der Most PJ, van Duijn CM, Vergnaud AC, Verwoert GC, Vitart V, Volker U, Vollenweider P, Vuckovic D, Watkins H, Wild SH, Willemsen G, Wilson JF, Wright AF, Yao J, Zemunik T, Zhang W, Attia JR, Butterworth AS, Chasman DI, Conen D, Cucca F, Danesh J, Hayward C, Howson JMM, Laakso M, Lakatta EG, Langenberg C, Melander O, Mook-Kanamori DO, Palmer CNA, Risch L, Scott RA, Scott RJ, Sever P, Spector TD, van der Harst P, Wareham NJ, Zeggini E, Levy D, Munroe PB, Newton-Cheh C, Brown MJ, Metspalu A, Hung AM, O'Donnell CJ, Edwards TL, Psaty BM, Tzoulaki I, Barnes MR, Wain LV, Elliott P, Caulfield MJ, Million Veteran Program. Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. Nature Genetics. 2018. 50: 1412-1425. https://doi.org/10.1038/s41588-018-0205-x
  8. Fowdar JY, Grealy R, Lu Y, Griffiths LR. A genome-wide association study of essential hypertension in an australian population using a DNA pooling approach. Molecular Genetics and Genomics. 2017. 292: 307-324. https://doi.org/10.1007/s00438-016-1274-0
  9. Gonzalez A, Fortuno MA, Querejeta R, Ravassa S, Lopez B, Lopez N, Diez J. Cardiomyocyte Apoptosis in Hypertensive Cardiomyopathy. Cardiovascular Research. 2003. 59: 549-562. https://doi.org/10.1016/S0008-6363(03)00498-X
  10. Harrison MJ, Shapiro AJ, Kennedy MP. Congenital heart disease and primary ciliary dyskinesia. Paediatric Respiratory Reviews. 2016. 18: 25-32. https://doi.org/10.1016/j.prrv.2015.09.003
  11. Hedrick PW. Gametic disequilibrium measures: proceed with caution. Genetics. 1987. 117: 331-341. https://doi.org/10.1093/genetics/117.2.331
  12. Hjeij R, Lindstrand A, Francis R, Zariwala MA, Liu X, Li Y, Damerla R, Dougherty GW, Abouhamed M, Olbrich H, Loges NT, Pennekamp P, Davis EE, Carvalho CM, Pehlivan D, Werner C, Raidt J, Kohler G, Haffner K, Reyes-Mugica M, Lupski JR, Leigh MW, Rosenfeld M, Morgan LC, Knowles MR, Lo CW, Katsanis N, Omran H. ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. American Journal of Human Genetics. 2013. 93: 357-367. https://doi.org/10.1016/j.ajhg.2013.06.009
  13. Jeon TE, Jin HS. PDGFC, MARK3 and BCL2 Polymorphisms are Associated with Left Ventricular Hypertrophy in Korean Population. Biomedical Science Letters. 2019. 25: 237-246. https://doi.org/10.15616/BSL.2019.25.3.237
  14. Jin HS, Hong KW, Lim JE, Oh B. Replication of an africanamerican GWAS on blood pressure and hypertension in the korean population. Genes & Genomics. 2011. 33: 127-132. https://doi.org/10.1007/s13258-010-0138-y
  15. Ko B, Jin HS. MACROD2 Polymorphisms Are Associated with Hypertension in Korean Population. Korean Journal of Clinical Laboratory Science. 2019. 51: 57-63. https://doi.org/10.15324/kjcls.2019.51.1.57
  16. Lee SI, Jin HS, Park S. Association of genetic polymorphism of IL-2 receptor subunit and tuberculosis case. Biomedical Science Letters. 2018. 24: 94-101. https://doi.org/10.15616/BSL.2018.24.2.94
  17. Levy D, Ehret GB, Rice K, Verwoert GC, Launer LJ, Dehghan A, Glazer NL, Morrison AC, Johnson AD, Aspelund T, Aulchenko Y, Lumley T, Kottgen A, Vasan RS, Rivadeneira F, Eiriksdottir G, Guo X, Arking DE, Mitchell GF, Mattace-Raso FU, Smith AV, Taylor K, Scharpf RB, Hwang SJ, Sijbrands EJ, Bis J, Harris TB, Ganesh SK, O'Donnell CJ, Hofman A, Rotter JI, Coresh J, Benjamin EJ, Uitterlinden AG, Heiss G, Fox CS, Witteman JC, Boerwinkle E, Wang TJ, Gudnason V, Larson MG, Chakravarti A, Psaty BM, van Duijn CM. Genome-wide association study of blood pressure and hypertension. Nature Genetics. 2009. 41: 677-687. https://doi.org/10.1038/ng.384
  18. Li H, Zhang Y, Wu Q. Role of corin in the regulation of blood pressure. Current Opinion in Nephrology and Hypertension. 2017. 26: 67-73. https://doi.org/10.1097/mnh.0000000000000297
  19. Li W, Liu C. The -344C/T polymorphism in the CYP11B2 gene is associated with essential hypertension in the chinese. Journal of the Renin-Angiotensin-Aldosterone System. 2014. 15: 150-155. https://doi.org/10.1177/1470320312466928
  20. Lim HS, Lee SI, Park S. Association between tuberculosis case and CD44 gene polymorphism. Korean Journal of Clinical Laboratory Science. 2019. 51: 323-328. https://doi.org/10.15324/kjcls.2019.51.3.323
  21. Liu DX, Zhang YQ, Hu B, Zhang J, Zhao Q. Association of AT1R polymorphism with hypertension risk: an update meta-analysis based on 28,952 subjects. Journal of the Renin-Angiotensin-Aldosterone System. 2015. 16: 898-909. https://doi.org/10.1177/1470320315584096
  22. Lu X, Wang L, Lin X, Huang J, Charles Gu C, He M, Shen H, He J, Zhu J, Li H, Hixson JE, Wu T, Dai J, Lu L, Shen C, Chen S, He L, Mo Z, Hao Y, Mo X, Yang X, Li J, Cao J, Chen J, Fan Z, Li Y, Zhao L, Li H, Lu F, Yao C, Yu L, Xu L, Mu J, Wu X, Deng Y, Hu D, Zhang W, Ji X, Guo D, Guo Z, Zhou Z, Yang Z, Wang R, Yang J, Zhou X, Yan W, Sun N, Gao P, Gu D. Genome-wide association study in chinese identifies novel loci for blood pressure and hypertension. Human Molecular Genetics. 2015. 24: 865-874. https://doi.org/10.1093/hmg/ddu478
  23. Onoufriadis A, Shoemark A, Munye MM, James CT, Schmidts M, Patel M, Rosser EM, Bacchelli C, Beales PL, Scambler PJ, Hart SL, Danke-Roelse JE, Sloper JJ, Hull S, Hogg C, Emes RD, Pals G, Moore AT, Chung EM, UK10K, Mitchison HM. Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm. Journal of Medical Genetics. 2014. 51: 61-67. https://doi.org/10.1136/jmedgenet-2013-101938
  24. Park HJ, Kim SS, Jin HS. Genetic poly- morphisms of SLC8A1 are associated with hypertension and left ventricular hypertrophy in the korean population. Korean Journal of Clinical Laboratory Science. 2019. 51: 386-293. https://doi.org/10.15324/kjcls.2019.51.3.386
  25. Poulter NR, Prabhakaran D, Caulfield M. Hypertension. Lancet (London, England). 2015. 386: 801-812. https://doi.org/10.1016/S0140-6736(14)61468-9
  26. Rust P, Ekmekcioglu C. Impact of salt intake on the pathogenesis and treatment of hypertension. Advances in Experimental Medicine and Biology. 2017. 956: 61-84. https://doi.org/10.1007/5584_2016_147
  27. Seravalle G, Grassi G. Obesity and hypertension. Pharmacological Research. 2017. 122: 1-7. https://doi.org/10.1016/j.phrs.2017.05.013
  28. Shenasa M, Shenasa H. Hypertension, left ventricular hypertrophy, and sudden cardiac death. International Journal of Cardiology. 2017. 237: 60-63. https://doi.org/10.1016/j.ijcard.2017.03.002
  29. Strandberg TE, Pitkala K. What is the most important component of blood pressure: systolic, diastolic or pulse pressure?. Current Opinion in Nephrology and Hypertension. 2003. 12: 293-297. https://doi.org/10.1097/00041552-200305000-00011
  30. Tsujimoto Y. Role of Bcl-2 family proteins in apoptosis: apoptosomes or mitochondria?. Genes to Cells: Devoted to Molecular & Cellular Mechanisms. 1998. 3: 697-707. https://doi.org/10.1046/j.1365-2443.1998.00223.x
  31. Virdis A, Giannarelli C, Neves MF, Taddei S, Ghiadoni L. Cigarette smoking and hypertension. Current Pharmaceutical Design. 2010. 16: 2518-2525. https://doi.org/10.2174/138161210792062920
  32. Yang H, Cai D, Zhu Q, Wu D, Wang Q, Wang Z. The mutation of Trp64Arg in beta3-adrenoreceptor-encoding gene is significantly associated with increased hypertension risk and elevated blood pressure: a meta-analysis. Oncotarget. 2017. 8: 46480-46490. https://doi.org/10.18632/oncotarget.16666
  33. Zotova TY, Kubanova AP, Azova MM, Aissa AA, Gigani OO, Frolov VA. Analysis of polymorphism of angiotensin system genes (ACE, AGTR1, and AGT) and gene ITGB3 in patients with arterial hypertension in combination with metabolic syndrome. Bulletin of Experimental Biology and Medicine. 2016. 161: 334-338. https://doi.org/10.1007/s10517-016-3408-0