Genetic determinants of hypertension in two national cohorts of Mountain Shoria


Cite item

Full Text

Abstract

Aim. To estimate the prevalence of the genotypes of the candidate genes ACE (I/D, rs4646994), ADRB1 (Ser49Gly, A/G, rs1801252) ADRA2B (I/D), MTHFR (C677T, Ala222Val, rs1801133), and eNOS (4b/4a) and their association with hypertension in two ethnic groups of Mountain Shoria. Subjects and methods. A clinical and epidemiological study was conducted in a population compactly living in the hard-to-reach areas of Mountain Shoria (the settlements of Orton, Ust-Kabyrza, and Sheregesh of the Kemerovo Region). A continuous method was used to survey 1178 residents from the above settlements; the sample consisted of adults (aged 18 years and older), 565 people were genotyped. Results. The prevalence of hypertension among the population of Mountain Shoria was 42.3%. The incidence of this disease among the Shorians was lower (39.9%) than that among the representatives of non-indigenous people (46.1%). The ethnically justified peculiarities of the association of ADRA2B and ACE I/D polymorphisms with hypertension were established. There were fewer patients with hypertension among ACE ID and ADRA2B DD genotype carriers in the cohort of the Shorians than in that of the non-indigenous population: 40.6% versus 58.6% and 38.3% versus 64%, respectively. Conversely, there were more hypertensive patients among the carriers of the homozygous ACE DD genotype in the native ethnic group (60%) than in the non-indigenous one (37.1%). Conclusion. Adverse prognostic ACE DD, ADRB1 AA, MTHFR TT, and eNOS 4a/4a genotypes were more frequently observed in the non-indigenous ethnic groups; the ADRA2B DD genotype was more common in the native population. Hypertension was associated with the ACE DD, МTHFR CT, and ADRB1 AA genotypes in the native ethnic group and with the ACE ID genotype in the non-indigenous population.

About the authors

О L Barbarash

ФГБНУ «НИИ комплексных проблем сердечно-сосудистых заболеваний»

Кемерово, Россия

М I Voevoda

ФГБНУ «НИИ терапии и профилактической медицины»

Новосибирск, Россия

G V Artamonova

ФГБНУ «НИИ комплексных проблем сердечно-сосудистых заболеваний»

Кемерово, Россия

Т А Mulerova

ФГБНУ «НИИ комплексных проблем сердечно-сосудистых заболеваний», Кемерово, Россия; ГБОУ ДПО «Новокузнецкий государственный институт усовершенствования врачей» Минздрава России, Новокузнецк, Россия

Е N Voropaeva

ФГБНУ «НИИ терапии и профилактической медицины»

Новосибирск, Россия

V N Maksimov

ФГБНУ «НИИ терапии и профилактической медицины»

Новосибирск, Россия

М Yu Ogarkov

ФГБНУ «НИИ комплексных проблем сердечно-сосудистых заболеваний», Кемерово, Россия; ГБОУ ДПО «Новокузнецкий государственный институт усовершенствования врачей» Минздрава России, Новокузнецк, Россия

References

  1. Чазова И.Е., Ратова Л.Г., Бойцов С.А., Небиеридзе Д.В. Диагностика и лечение артериальной гипертензии (Рекомендации Российского медицинского общества по артериальной гипертензии и Всероссийского научного общества кардиологов). Системные гипертензии. 2010;3:5-26.
  2. Оганов Р.Г., Тимофеева Т.Н., Колтунов И.Е. Эпидемиология артериальной гипертонии в России. Результаты федерального мониторинга 2003—2010 гг. Кардиоваскулярная терапия и профилактика. 2011;1:9-14.
  3. Агеенкова О.А. Результаты эпидемиологического исследования распространенности артериальной гипертонии у жителей г. Смоленска. Современные проблемы науки и образования. 2014;1:125-177.
  4. Бойцов С.А. Десять лет поиска генетической основы гипертонической болезни: трудности и перспективы. Артериальная гипертензия. 2002;8(5):157-160.
  5. Линчак Р.М. Генетические аспекты артериальной гипертензии. Вестник Национального медико-хирургического центра им. Н.И. Пирогова. 2007;1(2):126-132.
  6. Binder A. Identification of genes for a complex trait: examples from hypertension. Curr Pharm Biotechnol. 2006;7(1):1-13. https://doi.org/10.2174/138920106775789610
  7. Cowley AWJr. The genetic dissection of essential hypertension. Nat Rev Genet. 2006;7(11):829-840. https://doi.org/10.1038/nrg1967
  8. Орлова Н.В., Ситников В.Ф., Чукаева И.И., Прохин А.В. Изучение генетической обусловленности артериальной гипертонии как фактора риска сердечно-сосудистых заболеваний. Медицинский альманах. 2011;3(16):81-84.
  9. Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA, Belmont JW, Boudreau A, Hardenbol P, Leal SM, Pasternak S, Wheeler DA, Willis TD, Yu F. A second generation human haplotype map of over 3.1 million SNPs. Nature. 2007;449(7164):851-861. https://doi.org/10.1038/nature06258
  10. Sethupathy P, Collins F. MicroRNA target site polymorphisms and human disease. Trends Genet. 2008;24(10):489-497. https://doi.org/10.1016/j.tig.2008.07.004
  11. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MAR, Bender D, Maller J, Sklar P, de Bakker PIW, Daly MJ, Sham PC. PLINK: a toolset for whole-genome association and population based linkage analysis. Am J Hum Genet. 2007;81(3):559-575. https://doi.org/10.1086/519795
  12. Avila-Vanzzini N, Posadas-Romero C, Gonzalez-Salazar Mdel C, Maass-Iturbide C, Melendez-Ramirez G, Perez-Mendez O, Valle-Mondragon Ldel, Masso-Rojas F, Lopez EV, Herrera-Bello H, Fernandez RV, Cruz-Robles D. The ACE I/D polymorphism is associated with nitric oxide metabolite and blood pressure levels in healthy Mexican men. Arch Cardiol Mex. 2015;85(2):105-110. https://doi.org/10.1016/j.acmx.2014.12.005
  13. Rolim T, Cancino J, Zucolotto V. A nanostructured genosensor for the early diagnosis of systemic arterial hypertension. Biomed Microdevices. 2015;17(1):3. https://doi.org/10.1007/s10544-014-9911-z
  14. Hu DC, Zhao XL, Shao JC, Wang W, Qian J, Chen AH, Zhang HQ, Guo H, Jiang J, Li HY. Interaction of six candidate genes in essential hypertension. Genet Mol Res. 2014;13(4):8385-8395. https://doi.org/10.4238/2014.october.20.14
  15. Ji L, Cai X, Zhang L, Fei L, Wang L, Su J, Lazar L, Xu J, Zhang Y. Association between polymorphisms in the renin-angiotensin-aldosterone system genes and essential hypertension in the Han Chinese population. PLoS One. 2013;8(8):e72701. https://doi.org/10.1371/journal.pone.0072701
  16. Niu S, Zhang B, Zhang K, Zhu P, Li J, Sun Y, He N, Zhang M, Gao Z, Li X, Simayi A, Ge J, Cong M, Zhou W, Qiu C. Synergistic effects of gene polymorphisms of the renin-angiotensin-aldosterone system on essential hypertension in Kazakhs in Xinjiang. Clin Exp Hypertens. 2015;38(1):63-70. https://doi.org/10.3109/10641963.2015.1060985
  17. Singh M, Singh AK, Singh S, Pandey P, Chandra S, Gambhir IS. Angiotensin-converting enzyme gene I/D polymorphism increases the susceptibility to hypertension and additive diseases: A study on North Indian patients. Clin Exp Hypertens. 2016;38(3):305-311. https://doi.org/10.3109/10641963.2015.1107085
  18. Gao Y, Lin Y, Sun K, Wang Y, Chen J, Wang H, Zhou X, Fan X, Hui R. Orthostatic blood pressure dysregulation and polymorphisms of β-adrenergic receptor genes in hypertensive patients. J Clin Hypertens (Greenwich). 2014;16(3):207-213. https://doi.org/10.1111/jch.12272
  19. Kong H, Li X, Zhang S, Guo S, Niu W. The β1-adrenoreceptor gene Arg389Gly and Ser49Gly polymorphisms and hypertension: a meta-analysis. Mol Biol Rep. 2013;40(6):4047-4053. https://doi.org/10.1007/s11033-012-2482-2
  20. Iwamoto Y, Ohishi M, Yuan M, Tatara Y, Kato N, Takeya Y, Onishi M, Maekawa Y, Kamide K, Rakugi H. β-Adrenergic receptor gene polymorphism is a genetic risk factor for cardiovascular disease: a cohort study with hypertensive patients. Hypertens Res. 2011;34(5):573-577. https://doi.org/10.1038/hr.2010.281
  21. Peng Y, Xue H, Luo L, Yao W, Li R. Polymorphisms of the beta1-adrenergic receptor gene are associated with essential hypertension in Chinese. Clin Chem Lab Med. 2009;47(10):1227-1231. https://doi.org/10.1515/cclm.2009.276
  22. Ghogomu SM, Ngolle NE, Mouliom RN, Asa BF. Association between the MTHFR C677T gene polymorphism and essential hypertension in South West Cameroon. Genet Mol Res. 2016;15(1):28. https://doi.org/10.4238/gmr.15017462
  23. Yun L, Xu R, Li G, Yao Y, Li J, Cong D, Xu X, Zhang L. Homocysteine and the C677T Gene Polymorphism of Its Key Metabolic Enzyme MTHFR Are Risk Factors of Early Renal Damage in Hypertension in a Chinese Han Population. Medicine (Baltimore). 2015;94(52):e2389. https://doi.org/10.1097/md.0000000000002389
  24. Nassereddine S, Kassogue Y, Korchi F, Habbal R, Nadifi S. Association of methylenetetrahydrofolate reductase gene (C677T) with the risk of hypertension in Morocco. BMC Res Notes. 2015;8(1):775. https://doi.org/10.1186/s13104-015-1772-x
  25. Seidlerovа J, Filipovsky J, Mayer OJr, Kuсerovа A, Pesta M. Association between endothelial NO synthase polymorphisms and arterial properties in the general population. Nitric Oxide. 2015;44:47-51. https://doi.org/10.1016/j.niox.2014.11.016
  26. Snapir A, Scheinin M, Groop LC, Orho-Melander M. The insertion/deletion variation in the α2B-adrenoceptor does not seem to modify the risk for acute myocardial infarction, but may modify the risk for hypertension in sib-pairs from families with type 2 diabetes. Cardiovasc Diabetol. 2003;2:15.
  27. Lima JJ, Feng H, Duckworth L, Wang J, Sylvester JE, Kissoon N, Garg H. Association analyses of adrenergic receptor polymorphisms with obesity and metabolic alterations. Metabolism. 2007;56(6):757-765. https://doi.org/10.1016/j.metabol.2007.01.007
  28. Salimi S, Firoozrai M, Nourmohammadi I, Shabani M, Mohebbi A. Endothelial nitric oxide synthase gene intron4 VNTR polymorphism in patients with coronary artery disease in Iran. Indian J Med Res. 2006;124(6):683-688.
  29. Баранов В.С., Иващенко Т.Э., Баранова Е.В. Генетический паспорт — основа индивидуальной и предиктивной медицины. СПб.: Изд-во Н-Л; 2009.
  30. Горбунова В.Н. Генетика и эпигенетика синтропных заболеваний. Экологическая генетика. 2010;8(4):39-43.
  31. Danser AH, Schalekamp MA, Bax WA, Van den Brink AM, Saxena PR, Riegger JA, Schunkert H. Angiotensin-converting enzyme in the human heart. Effect of the deletion/insertion polymorphism. Circulation. 1995;92(6):1387-1388. https://doi.org/10.1161/01.cir.92.6.1387
  32. Шулутко Б.И. Артериальная гипертензия. СПб.: Сотис; 2001:98-108.
  33. Fox CS, Heard-Costa NL, Vasan RS, Murabito JM, D’Agostino RB, Atwood LD. Genomewide Linkage Analysis of Weight Change in the Framingham Heart Study. J Clin Endocrinol Metab. 2005;15:3197-3201. https://doi.org/10.1210/jc.2004-1752
  34. Караулова Ю.Л., Павлова А.В. Моисеев В.С. Изучение клинико-генетических детерминант гипертрофии левого желудочка у больных артериальной гипертонией и гипертрофической кардиомиопатией. Практикующий врач. 2006;1:58-63.
  35. Zee RY, Bennett CL, Schrader AP, Morris BJ. Frequencies of variants of candidate genes in different age groups of hypertensives. Clin Exp Pharmacol Physiol 1994;21(11):925-930. https://doi.org/10.1111/j.1440-1681.1994.tb02468.x
  36. Chiang FT, Lai ZP, Chern TH. Lack of association of the angiotensin converting enzyme polymorphism with essential hypertension in a Chinese population. Am J Hypertens. 1997;10(2):197-201. https://doi.org/10.1016/s0895-7061(96)00345-7
  37. Maeda Y, Ikeda U, Ebata H, Hojo Y, Seino Y, Hayashi Y, Kuroki S, Shimada K. Angiotensin-converting enzyme gene polymorphism in hypertensive individuals with parental history of stroke. Stroke. 1996;27(9):1521-1523. https://doi.org/10.1161/01.str.27.9.1521
  38. O’Donnel CJ, Lindpainter K, Larson MG, Rao VS, Ordovas JM, Schaefer EJ, Myers RH, Levy D Evidence for association and genetic linkage of the angiotensin-converting enzyme locus with hypertension and blood pressure in men but not women in the Framyngham Heart Study. Circulation. 1998;97(18):1766-1772. https://doi.org/10.1161/01.cir.97.18.1766
  39. Glavnik N, Petrovic D. M235T polymorphism of the angiotensinogen gene and insertion/deletion polymorphism of the angiotensin-1 converting enzyme gene in essential arterial hypertension in Caucasians. Folia Biol (Praha). 2007;53(2):69-70.
  40. Гончарова Л.Н., Бирлюкова Д.В., Федоткина Л.К. Инсерционно-делеционный полиморфизм ангиотензинпревращающего фермента у лиц с семейной артериальной гипертензией коренного населения Республики Мордовия. Вестник Санкт-Петербургского университета. 2009;1:26-29.
  41. Fatini C, Guazzelli R, Manetti P, Battaglini B, Gensini F, Vono R, Toncelli L, Zilli P, Capalbo A, Abbate R, Gensini GF, Galanti G. RAS genes influence exercise-induced left ventricular hypertrophy: an elite athletes study. Med Sci Sports Exerc. 2000;32(11):1868-1872.
  42. Байтасова Н.Б., Рысмендиев А.Ж. Генотипы гена ангиотензинпревращающего фермента у больных ИБС — лиц казахской и уйгурской национальностей. Клиническая медицина. 2002;1:23-24.
  43. Милосердова О.П., Сломинский П.А., Тарская Л.А. Полиморфные маркеры генов AGT и АСЕ у якутов. Отсутствие ассоциации с уровнем кровяного давления. Генетика. 2001; 37(5):712-715.
  44. Aquilante CL, Yarandi NH, Cavallari LH, Andrisin TE, Terra SG, Lewis JF, Hamilton KK, Johnson JA. β-Adrenergic receptor gene polymorphisms and hemodynamic response to dobutamine during dobutamine stress echocardiography. The Pharmacogenomics Journal. 2008;8(6):408-415. https://doi.org/10.1038/sj.tpj.6500490
  45. Levin MC, Marullo S, Muntaner O, Andersson B, Magnusson Y. The myocardium_protective Gly-49 variant of the beta1-adrenergic receptor exhibits of constitutive activity and increased desensitization and down regulation. J Biol Chemistry. 2002;277(34):30429-30435. https://doi.org/10.1074/jbc.m200681200
  46. Бабенко А.Ю., Костарева А.А., Гринева Е.Н. Вклад распространенных однонуклеотидных полиморфизмов гена β1-адренорецептора в изменения, происходящие в сердечно-сосудистой системе при тиреотоксикозе. Клиническая и экспериментальная тиреоидология. 2014;10(2):22-31.
  47. Ranade K, Jorgenson E, Sheu W, Pei D, Hsiung CA, Chiang F, Botstein D, Risch N. A Polymorphism in the b1-adrenergic receptor is associated with resting heart rate. Am J Hum Genet. 2002;70(4):935-942. https://doi.org/10.1086/339621
  48. Nieminen T. Effects of polymorphisms in beta1-adrenoceptor and alpha-subunit of G protein on heart rate and blood pressure during exercise test. The Finnish Cardiovascular Study. J Appl Physiol. 2006;100(2):507-511. https://doi.org/10.1152/japplphysiol.00899.2005
  49. Suzuki N, Matsunaga T, Nagasumi K, Yamamura T, Shihara N, Moritani T, Ue H, Fukushima M, Tamon A, Seino Y, Tsuda K, Yasuda K. Alpha(2B)-adrenergic receptor deletion polymorphism associates with autonomic nervous system activity in young healthy Japanese. J Clin Endocrinol Metab. 2003;88(3):1184-1187. https://doi.org/10.1210/jc.2002-021190
  50. Snapir A, Heinonen P, Tuomainen TP, Alhopuro P, Karvonen MK, Lakka TA, Nyyssönen K, Salonen R, Kauhanen J, Valkonen V-P, Pesonen U, Koulu M, Scheinin M, Salon JT. An insertion/deletion polymorphism in the alpha2B-adrenergic receptor gene is a novel genetic risk factor for acute coronary events. J Am Coll Cardiol. 2001;37(6):1516-1522. https://doi.org/10.1016/s0735-1097(01)01201-3
  51. Vasudevan R, Ismail P, Stanslas J. Association of Insertion/Deletion Polymorphism of Alpha-Adrenoceptor Gene in Essential Hypertension with or without Type 2 Diabetes Mellitus in Malaysian Subjects. Int J Biol Sci. 2008;4(6):362-367. https://doi.org/10.7150/ijbs.4.362
  52. Zhang H, Li X, Huang J, Li Y, Thijs L, Wang Z, Lu X, Cao K, Xie S, Staessen JA, Wang JG. Cardiovascular and metabolic phenotypes in relation to the ADRA2B insertion/deletion polymorphism in a Chinese population. J Hypertens. 2005;23(12):2201-2207. https://doi.org/10.1097/01.hjh.0000189869.48290.91
  53. Baldwin CT, Schwartz F, Baima J, Burzstyn M, DeStefano AL, Gavras I, Handy DE, Joost O, Martel T, Manolis A, Nicolaou M, Bresnahan M, Farrer L, Gavras H. Identification of a polymorphic glutamic acid stretch in the alpha2B-adrenergic receptor and lack of linkage with essential hypertension. Am J Hypertens. 1999;12(9):853-857. https://doi.org/10.1016/s0895-7061(99)00070-9
  54. Etzel JP, Rana BK, Wen G, Parmer RJ, Schork NJ, O’Connor DT, Insel PA. Genetic variation at the human alpha2B-adrenergic receptor locus: role in blood pressure variation and yohimbine response. Hypertension. 2005;45(6):1207-1213. https://doi.org/10.1161/01.hyp.0000166721.42734.49
  55. Weisberg I, Tran P, Christensen B, Sibani S, Rozen R. A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Mol Genet Metab. 1998;64(3):169-172. https://doi.org/10.1006/mgme.1998.2714
  56. Фетисова И.Н., Добролюбов А.С., Липин М.А., Поляков А.В. Полиморфизм генов фолатного обмена и болезни человека. Вестник новых медицинских технологий. 2007;10(1):71-73.
  57. Botto LD, Yang Q. 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review. Am J Epidemiol. 2000;151(9):862-877. https://doi.org/10.1093/oxfordjournals.aje.a010290
  58. Калашникова Е.А., Кокаровцева С.Н. Ассоциация наследственных факторов тромбофилии с невынашиванием беременности у женщин в русской популяции. Медицинская генетика. 2005;8:386-391.
  59. Бородулин В.Б., Шевченко О.В., Бычков Е.Н. Значение генетических мутаций в развитии метаболических нарушений у пациентов с артериальной гипертензией. Саратовский научно-медицинский журнал. 2012;3(8):751-756.
  60. Metzger IF, Sertório JTC, Tanus-Santos JE. Modulation of nitric oxide formation by endothelial nitric oxide synthase gene haplotypes. Free Radical Biology and Medicine. 2007;43(6):987-992. https://doi.org/10.1016/j.freeradbiomed.2007.06.012
  61. Wang XL, Mahoney MC, Sim AS, Wang J, Wang J, Blangero J, Almasy L, Badenhop RB, Wilcken DE. Genetic contribution of the endothelial constitutive nitric oxide synthase gene to plasma nitric oxide levels. Arterioscler Thromb Vasc Biol. 1997;17(11):3147-3153. https://doi.org/10.1161/01.atv.17.11.3147
  62. Баирова Т.А., Долгих В.В. Взаимосвязь полиморфизма гена эндотелиальной синтазы окиси азота и эссециальной артериальной гипертензии в популяциях Восточной Сибири. Бюллетень Восточно-Сибирского научного центра СО РАМН. 2007;3:64-65.
  63. Granath B, Taylor RR, van Bockxmeer FM, Mamotte CD. Lack of evidence for association between endothelial nitric oxide synthase gene polymorphisms and coronary artery disease in the Australian Caucasian population. J Cardiovasc Risk. 2001;8(4):235-241. https://doi.org/10.1177/174182670100800408
  64. Nakagami H, Ikeda U, Maeda Y, Yamamoto K, Hojo Y, Kario K, Kuroki S, Shimada K. Coronary artery disease and endothelial nitric oxide synthase and angiotensin-converting enzyme gene polymorphisms. J Thromb Thrombolysis. 1999;8(3):191-195.

Copyright (c) 2017 Consilium Medicum

Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
 
 


This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies