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Korchagin V.I.

Central Research Institute of Epidemiology, Moscow, Russia

Mironov K.O.

FBUN «Tsentral'nyj NII epidemiologii» Rospotrebnadzora, Moskva

Platonov A.E.

Central Research Institute of Epidemiology, Moscow, Russia

Dribnokhodova O.P.

Central Research Institute of Epidemiology, Moscow, Russia

Akselrod E.V.

Central Research Institute of Epidemiology, Moscow, Russia

Dunaeva E.A.

FBUN «Tsentral'nyj NII epidemiologii» Rospotrebnadzora, Moskva

Raskurazhev A.A.

Neurology Research Center, Moscow, Russia

Tanashyan M.M.

Neurology Research Center, Moscow, Russia

Maksimova M.Yu.

Federal State budgetary scientific Institution «Research Centre of Neurology», Moscow

Illarioshkin S.N.

Nauchnyĭ tsentr nevrologii RAMN

Shipulin G.A.

Federal State Budgetary Institution of Science Central Research Institute of Epidemiology, Russian Federal Consumer Rights Protection and Human Health Control Service, Moscow

Complex assessment of the contribution of genetic factors to the risk of ischemic stroke

Authors:

Korchagin V.I., Mironov K.O., Platonov A.E., Dribnokhodova O.P., Akselrod E.V., Dunaeva E.A., Raskurazhev A.A., Tanashyan M.M., Maksimova M.Yu., Illarioshkin S.N., Shipulin G.A.

More about the authors

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To cite this article:

Korchagin VI, Mironov KO, Platonov AE, et al. Complex assessment of the contribution of genetic factors to the risk of ischemic stroke. S.S. Korsakov Journal of Neurology and Psychiatry. 2017;117(12‑2):11‑18. (In Russ.)
https://doi.org/10.17116/jnevro201711712211-18

References:

  1. Goldstein L, Adams R, Alberts M, Appel L, Brass L, Bushnell C, Culebras A, DeGraba T, Gorelick P, Guyton J, Hart R, Howard G, Kelly-Hayes M, Nixon J, Sacco R. Primary Prevention of Ischemic Stroke: A Guideline From the American Heart Association/American Stroke Association Stroke Council. Stroke. 2006;37(6):1583-1633. https://doi.org/10.1161/01.str.0000223048.70103.f1
  2. Suslina ZA, Varakin YuYa, Vereshchagin NV. Sosudistye zabolevaniya golovnogo mozga. Epidemiologiya. Osnovy profilaktiki. 2-e izdanie, pererabotannoe i dopolnennoe. M.: MEDpress-inform; 2009. (In Russ.)
  3. Della-Morte D, Guadagni F, Palmirotta R, Testa G, Caso V, Paciaroni M, Abete P, Rengo F, Ferroni P, Sacco R, Rundek T. Genetics of ischemic stroke, stroke-related risk factors, stroke precursors and treatments. Pharmacogenomics. 2012;13(5):595-613. https://doi.org/10.2217/pgs.12.14
  4. Bang O, Ovbiagele B, Kim J. Nontraditional Risk Factors for Ischemic Stroke. Stroke. 2015;46(12):3571-3578. https://doi.org/10.1161/strokeaha.115.010954
  5. Titov BV, Matveeva NA, Martynov MY, Favorova OO. Ischemic stroke as a complex polygenic disease. Molecular Biology. 2015;49(2):195-216. (In Russ.) https://doi.org/10.7868/S0026898415020135
  6. Hopewell J, Clarke R. Emerging Risk Factors for Stroke. Stroke. 2016;47(6):1673-1678. https://doi.org/10.1161/strokeaha.115.010646
  7. Chauhan G, Debette S. Genetic Risk Factors for Ischemic and Hemorrhagic Stroke. Current Cardiology Reports. 2016;18(12). https://doi.org/10.1007/s11886-016-0804-z
  8. Choi J, Lee J, Kang S, Kang J, Bae J. Family history and risk for ischemic stroke: Sibling history is more strongly correlated with the disease than parental history. Journal of the Neurological Sciences. 2009;284(1-2):29-32. https://doi.org/10.1016/j.jns.2009.03.015
  9. Bevan S, Traylor M, Adib-Samii P, Malik R, Paul N, Jackson C, Farrall M, Rothwell P, Sudlow C, Dichgans M, Markus H. Genetic Heritability of Ischemic Stroke and the Contribution of Previously Reported Candidate Gene and Genomewide Associations. Stroke. 2012;43(12):3161-3167. https://doi.org/10.1161/STROKEAHA.112.665760
  10. Chung J, Kim B, Han M, Kang K, Park J, Park S, Park T, Cho Y, Hong K, Lee K, Kim J, Ko Y, Lee S, Nah H, Kim D, Cha J, Oh M, Yu K, Lee B, Jang M, Lee J, Lee J, Bae H. Family History and Risk of Recurrent Stroke. Stroke. 2016;47(8):1990-1996. https://doi.org/10.1161/strokeaha.116.013148
  11. Hachiya T, Kamatani Y, Takahashi A, Hata J, Furukawa R, Shiwa Y, Yamaji T, Hara M, Tanno K, Ohmomo H, Ono K, Takashima N, Matsuda K, Wakai K, Sawada N, Iwasaki M, Yamagishi K, Ago T, Ninomiya T, Fukushima A, Hozawa A, Minegishi N, Satoh M, Endo R, Sasaki M, Sakata K, Kobayashi S, Ogasawara K, Nakamura M, Hitomi J, Kita Y, Tanaka K, Iso H, Kitazono T, Kubo M, Tanaka H, Tsugane S, Kiyohara Y, Yamamoto M, Sobue K, Shimizu A. Genetic Predisposition to Ischemic Stroke. Stroke. 2016;48(2):253-258. https://doi.org/10.1161/strokeaha.116.014506
  12. Hardy J, Singleton A. Genomewide Association Studies and Human Disease. New England Journal of Medicine. 2009;360(17):1759-1768. https://doi.org/10.1056/nejmra0808700
  13. Ikram M, Seshadri S, Bis J, Fornage M, DeStefano A, Aulchenko Y, Debette S, Lumley T, Folsom A, van den Herik E, Bos M, Beiser A, Cushman M, Launer L, Shahar E, Struchalin M, Du Y, Glazer N, Rosamond W, Rivadeneira F, Kelly-Hayes M, Lopez O, Coresh J, Hofman A, DeCarli C, Heckbert S, Koudstaal P, Yang Q, Smith N, Kase C, Rice K, Haritunians T, Roks G, de Kort P, Taylor K, de Lau L, Oostra B, Uitterlinden A, Rotter J, Boerwinkle E, Psaty B, Mosley T, van Duijn C, Breteler M, Longstreth W, Wolf P. Genomewide Association Studies of Stroke. New England Journal of Medicine. 2009;360(17):1718-1728. https://doi.org/10.1056/nejmoa0900094
  14. Pulit S, McArdle P, Wong Q, Malik R, Gwinn K, Achterberg S, Algra A, Amouyel P, Anderson C, Arnett D, Arsava E, Attia J, Ay H, Bartz T, Battey T, Benavente O, Bevan S, Biffi A, Bis J, Blanton S, Boncoraglio G, Brown R, Burgess A, Carrera C, Chapman Smith S, Chasman D, Chauhan G, Chen W, Cheng Y, Chong M, Cloonan L, Cole J, Cotlarciuc I, Cruchaga C, Cuadrado-Godia E, Dave T, Dawson J, Debette S, Delavaran H, Dell C, Dichgans M, Doheny K, Dong C, Duggan D, Engström G, Evans M, Pallejà X, Faul J, Fernández-Cadenas I, Fornage M, Frossard P, Furie K, Gamble D, Gieger C, Giese A, Giralt-Steinhauer E, González H, Goris A, Gretarsdottir S, Grewal R, Grittner U, Gustafsson S, Han B, Hankey G, Heitsch L, Higgins P, Hochberg M, Holliday E, Hopewell J, Horenstein R, Howard G, Ikram M, Ilinca A, Ingelsson E, Irvin M, Jackson R, Jern C, Conde J, Johnson J, Jood K, Kahn M, Kaplan R, Kappelle L, Kardia S, Keene K, Kissela B, Kleindorfer D, Koblar S, Labovitz D, Launer L, Laurie C, Laurie C, Lee C, Lee J, Lehm M, Lemmens R, Levi C, Leys D, Lindgren A, Longstreth W, Maguire J, Manichaikul A, Markus H, McClure L, McDonough C, Meisinger C, Melander O, Meschia J, Mola-Caminal M, Montaner J, Mosley T, Müller-Nurasyid M, Nalls M, O’Connell J, O’Donnell M, Ois á, Papanicolaou G, Paré G, Peddareddygari L, Pedersén A, Pera J, Peters A, Poole D, Psaty B, Rabionet R, Raffeld M, Rannikmäe K, Rasheed A, Redfors P, Reiner A, Rexrode K, Ribasés M, Rich S, Robberecht W, Rodriguez-Campello A, Rolfs A, Roquer J, Rose L, Rosenbaum D, Rost N, Rothwell P, Rundek T, Ryan K, Sacco R, Sale M, Saleheen D, Salomaa V, Sánchez-Mora C, Schmidt C, Schmidt H, Schmidt R, Schürks M, Scott R, Segal H, Seiler S, Seshadri S, Sharma P, Shuldiner A, Silver B, Slowik A, Smith J, Söderholm M, Soriano C, Sparks M, Stanne T, Stefansson K, Stine O, Strauch K, Sturm J, Sudlow C, Tajuddin S, Talbert R, Tatlisumak T, Thijs V, Thorleifsson G, Thorsteindottir U, Tiedt S, Traylor M, Trompet S, Valant V, Waldenberger M, Walters M, Wang L, Wassertheil-Smoller S, Weir D, Wiggins K, Williams S, Wloch-Kopec D, Woo D, Woodfield R, Wu O, Xu H, Zonderman A, Worrall B, de Bakker P, Kittner S, Mitchell B, Rosand J, Mitchell B, Ay H, Gwinn K, Kittner S, Lindgren A, Meschia J, Pulit S, Sudlow C, Thijs V, Woo D, Worrall B, Arnett D, Benavente O, Cole J, Dichgans M, Grewal R, Jern C, Conde J, Johnson J, Kittner S, Lee J, Levi C, Lindgren A, Markus H, Melander O, Meschia J, Rexrode K, Rosand J, Rothwell P, Rundek T, Sacco R, Schmidt R, Sharma P, Slowik A, Sudlow C, Thijs V, Wasssertheil-Smoller S, Woo D, Worrall B. Loci associated with ischaemic stroke and its subtypes (SiGN): a genome-wide association study. The Lancet Neurology. 2016;15(2):174-184. https://doi.org/10.1016/s1474-4422(15)00338-5
  15. The 1000 Genomes Project Consortium. A global reference for human genetic variation. Nature. 2015;526(7571):68-74. https://doi.org/10.1038/nature15393
  16. Traylor M, Farrall M, Holliday E, Sudlow C, Hopewell J, Cheng Y, Fornage M, Ikram M, Malik R, Bevan S, Thorsteinsdottir U, Nalls M, Longstreth W, Wiggins K, Yadav S, Parati E, DeStefano A, Worrall B, Kittner S, Khan M, Reiner A, Helgadottir A, Achterberg S, Fernandez-Cadenas I, Abboud S, Schmidt R, Walters M, Chen W, Ringelstein E, O’Donnell M, Ho W, Pera J, Lemmens R, Norrving B, Higgins P, Benn M, Sale M, Kuhlenbäumer G, Doney A, Vicente A, Delavaran H, Algra A, Davies G, Oliveira S, Palmer C, Deary I, Schmidt H, Pandolfo M, Montaner J, Carty C, de Bakker P, Kostulas K, Ferro J, van Zuydam N, Valdimarsson E, Nordestgaard B, Lindgren A, Thijs V, Slowik A, Saleheen D, Paré G, Berger K, Thorleifsson G, Hofman A, Mosley T, Mitchell B, Furie K, Clarke R, Levi C, Seshadri S, Gschwendtner A, Boncoraglio G, Sharma P, Bis J, Gretarsdottir S, Psaty B, Rothwell P, Rosand J, Meschia J, Stefansson K, Dichgans M, Markus H. Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE Collaboration): a meta-analysis of genome-wide association studies. The Lancet Neurology. 2012;11(11):951-962. https://doi.org/10.1016/s1474-4422(12)70234-x
  17. González-Giraldo Y, Barreto G, Fava C, Forero D. Ischemic Stroke and Six Genetic Variants in CRP, EPHX2, FGA, and NOTCH3 Genes: A Meta-Analysis. Journal of Stroke and Cerebrovascular Diseases. 2016;25(9):2284-2289. https://doi.org/10.1016/j.jstrokecerebrovasdis.2016.05.020
  18. Rubanovich AV, Khromov-Borisov NN. Genetic risk assessment of the joint effect of several genes: Critical appraisal. Russian Journal of Genetics. 2016;52(7):757-769. (In Russ.) https://doi.org/10.7868/s0016675816070079
  19. Favorov A. A Markov Chain Monte Carlo Technique for Identification of Combinations of Allelic Variants Underlying Complex Diseases in Humans. Genetics. 2005;171(4):2113-2121. https://doi.org/10.1534/genetics.105.048090
  20. Shahbaba B, Shachaf C, Yu Z. A pathway analysis method for genome-wide association studies. Statistics in Medicine. 2012;31(10):988-1000. https://doi.org/10.1002/sim.4477
  21. Korte A, Vilhjálmsson B, Segura V, Platt A, Long Q, Nordborg M. A mixed-model approach for genome-wide association studies of correlated traits in structured populations. Nature Genetics. 2012;44(9):1066-1071. https://doi.org/10.1038/ng.2376
  22. Malik R, Bevan S, Nalls M, Holliday E, Devan W, Cheng Y, Ibrahim-Verbaas C, Verhaaren B, Bis J, Joon A, de Stefano A, Fornage M, Psaty B, Ikram M, Launer L, van Duijn C, Sharma P, Mitchell B, Rosand J, Meschia J, Levi C, Rothwell P, Sudlow C, Markus H, Seshadri S, Dichgans M. Multilocus Genetic Risk Score Associates With Ischemic Stroke in Case-Control and Prospective Cohort Studies. Stroke. 2014;45(2):394-402. https://doi.org/10.1161/strokeaha.113.002938
  23. Ibrahim-Verbaas C, Fornage M, Bis J, Choi S, Psaty B, Meigs J, Rao M, Nalls M, Fontes J, O’Donnell C, Kathiresan S, Ehret G, Fox C, Malik R, Dichgans M, Schmidt H, Lahti J, Heckbert S, Lumley T, Rice K, Rotter J, Taylor K, Folsom A, Boerwinkle E, Rosamond W, Shahar E, Gottesman R, Koudstaal P, Amin N, Wieberdink R, Dehghan A, Hofman A, Uitterlinden A, DeStefano A, Debette S, Xue L, Beiser A, Wolf P, DeCarli C, Ikram M, Seshadri S, Mosley T, Longstreth W, van Duijn C, Launer L. Predicting Stroke Through Genetic Risk Functions: The CHARGE Risk Score Project. Stroke. 2014;45(2):403-412. https://doi.org/10.1161/strokeaha.113.003044
  24. Falcone G, Malik R, Dichgans M, Rosand J. Current concepts and clinical applications of stroke genetics. The Lancet Neurology. 2014;13(4):405-418. https://doi.org/10.1016/s1474-4422(14)70029-8
  25. Adams H, Bendixen B, Kappelle L, Biller J, Love B, Gordon D, Marsh E. Classification of subtype of acute ischemic stroke. Definitions for use in a multicenter clinical trial. TOAST. Trial of Org 10172 in Acute Stroke Treatment. Stroke. 1993;24(1):35-41. https://doi.org/10.1161/01.str.24.1.35
  26. Vereshchagin NV, Suslina ZA. Sovremennoe predstavlenie o patogeneticheskoi geterogennosti ishemicheskogo insul’ta. In: Ocherki angionevrologii. Eds. Suslina Z.A. M.: Atmosfera; 2005. (In Russ.)
  27. Korchagin VI, Mironov KO, Dribnokhodova OP, Maxsimova MU, Illarioshkin SN, Tanashyan MM, Platonov AE, Shipulin GA, Raskurazhev AA, Piradov MA. A role of genetic factors in the development of individual predisposition to ischemic stroke. Annaly klinicheskoi i eksperimental’noi nevrologii. 2016;10(1):65-75. (In Russ.)
  28. Mironov KO, Dribnokhodova OP, Dunaeva EA, Korchagin VI, Platonov AE, Shipulin GA. Sposob opredeleniya individual’nogo geneticheskogo riska razvitiya ishemicheskogo insul’ta. Patent RF na izobretenie №2612630/09.03.2017 Byul. №7. Accessed July12, 2017. (In Russ.) http://www.findpatent.ru/patent/261/2612630.html
  29. Mironov KO, Dunaeva EA, Dribnokhodova OP, Shipulin GA. Opyt ispol’zovaniya sistem geneticheskogo analiza na osnove tekhnologii pirosekvenirovaniya. Spravochnik zaveduyushchego KDL. 2016;(5):33-43. (In Russ.)
  30. Padhukasahasram B, Halperin E, Wessel J, Thomas D, Silver E, Trumbower H, Cargill M, Stephan D. Presymptomatic Risk Assessment for Chronic Non-Communicable Diseases. PLoS ONE. 2010;5(12):14338. https://doi.org/10.1371/journal.pone.0014338
  31. Mironov KO, Maksimova MYu, Platonov AE, Korchagin VI, Kolyasnikova NM, Gridneva KA, Dribnokhodova OP, Dunaeva EA, Tanashyan MM, Illarioshkin SN, Shipulin GA. Predvaritel’nyerezul’tatykompleksnoiotsenkigeneticheskikhfaktorovpredraspolozhennostiulits, perenesshikhishemicheskiiinsul’t. In: Molekulyarnaya diagnostika — 2014. Sbornik trudov VIII Vserossiiskoi nauchno-prakticheskoi konferentsii s mezhdunarodnym uchastiem. M.: MBA; 2014. (In Russ.)
  32. Platonov AE, Mironov KO, Korchagin VI, Maksimova MYu, Illarioshkin SN, Shipulin GA. Printsipy otsenki srednego populyatsionnogo riska mul’tifaktornykh zabolevanii i raspredeleniya individual’nogo pokazatelya riska v populyatsii (naprimereishemicheskogoinsul’ta). In: Molekulyarnaya diagnostika — 2014. Sbornik trudov VIII Vserossiiskoi nauchno-prakticheskoi konferentsii s mezhdunarodnym uchastiem. M.: MBA; 2014. (In Russ.)
  33. Dribnokhodova OP, Mironov KO, Korchagin VI, Dunaeva EA, Akselrod EV, Titkov AV, Platonov AE, Shipulin GA. Characterization of 48 Polymorphic Loci as Potential Markers for the Risk of Ischemic Stroke. Russian Journal of Genetics. 2017;53(6):698-702. (In Russ.) https://doi.org/10.7868/S0016675817060042
  34. Aragon T, Fay M, Wollschlaeger D, Omidpanah A. Epidemiology Tools. 2017. https://cran.r-project.org/package=epitools
  35. R Core Team. R: A Language And Environment For Statistical Computing. Vienna, Austria: R Foundation for Statistical Computing; 2017. https://www.R-project.org/
  36. Traylor M, Rutten-Jacobs L, Holliday E, Malik R, Sudlow C, Rothwell P, Maguire J, Koblar S, Bevan S, Boncoraglio G, Dichgans M, Levi C, Lewis C, Markus H. Differences in Common Genetic Predisposition to Ischemic Stroke by Age and Sex. Stroke. 2015;46(11):3042-3047. https://doi.org/10.1161/strokeaha.115.009816
  37. Giroud M, Delpont B, Daubail B, Blanc C, Durier J, Giroud M, Béjot Y. Temporal Trends in Sex Differences With Regard to Stroke Incidence. Stroke. 2017;48(4):846-849. https://doi.org/10.1161/strokeaha.116.015913
  38. Lemmens R, Buysschaert I, Geelen V, Fernandez-Cadenas I, Montaner J, Schmidt H, Schmidt R, Attia J, Maguire J, Levi C, Jood K, Blomstrand C, Jern C, Wnuk M, Slowik A, Lambrechts D, Thijs V.The Association of the 4q25 Susceptibility Variant for Atrial Fibrillation With Stroke Is Limited to Stroke of Cardioembolic Etiology. Stroke. 2010;41(9):1850-1857. https://doi.org/10.1161/strokeaha.110.587980
  39. Gudbjartsson D, Holm H, Gretarsdottir S, Thorleifsson G, Walters G, Thorgeirsson G, Gulcher J, Mathiesen E, Njølstad I, Nyrnes A, Wilsgaard T, Hald E, Hveem K, Stoltenberg C, Kucera G, Stubblefield T, Carter S, Roden D, Ng M, Baum L, So W, Wong K, Chan J, Gieger C, Wichmann H, Gschwendtner A, Dichgans M, Kuhlenbäumer G, Berger K, Ringelstein E, Bevan S, Markus H, Kostulas K, Hillert J, Sveinbjörnsdóttir S, Valdimarsson E, Løchen M, Ma R, Darbar D, Kong A, Arnar D, Thorsteinsdottir U, Stefansson K.A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke. Nature Genetics. 2009;41(8):876-878. https://doi.org/10.1038/ng.417
  40. Lövkvist H, Sjögren M, Höglund P, Engström G, Jern C, Olsson S, Smith J, Hedblad B, Andsberg G, Delavaran H, Jood K, Kristoffersson U, Norrving B, Melander O, Lindgren A. Are 25 SNPs from the CARDIoGRAM study associated with ischaemic stroke? European Journal of Neurology. 2013; 20(9):1284-1291. https://doi.org/10.1111/ene.12183
  41. Tada H, Shiffman D, Smith J, Sjögren M, Lubitz S, Ellinor P, Louie J, Catanese J, Engström G, Devlin J, Kathiresan S, Melander O. Twelve—Single Nucleotide Polymorphism Genetic Risk Score Identifies Individuals at Increased Risk for Future Atrial Fibrillation and Stroke. Stroke. 2014;45(10):2856-2862. https://doi.org/10.1161/strokeaha.114.006072
  42. Dichgans M, Malik R, Konig I, Rosand J, Clarke R, Gretarsdottir S, Thorleifsson G, Mitchell B, Assimes T, Levi C, O’Donnell C, Fornage M, Thorsteinsdottir U, Psaty B, Hengstenberg C, Seshadri S, Erdmann J, Bis J, Peters A, Boncoraglio G, Marz W, Meschia J, Kathiresan S, Ikram M, McPherson R, Stefansson K, Sudlow C, Reilly M, Thompson J, Sharma P, Hopewell J, Chambers J, Watkins H, Rothwell P, Roberts R, Markus H, Samani N, Farrall M, Schunkert H, Gschwendtner A, Bevan S, Chen Y, DeStefano A, Parati E, Quertermous T, Ziegler A, Boerwinkle E, Holm H, Fischer M, Kessler T, Willenborg C, Laaksonen R, Voight B, Stewart A, Rader D, Hall A, Kooner J. Shared Genetic Susceptibility to Ischemic Stroke and Coronary Artery Disease: A Genome-Wide Analysis of Common Variants. Stroke. 2013;45(1):24-36. https://doi.org/10.1161/strokeaha.113.002707
  43. Yamada Y. Molecular genetics of coronary artery disease and ischemic stroke. Personalized Medicine Universe. 2015;4:4-12. https://doi.org/10.1016/j.pmu.2015.03.002
  44. Hawkins D. The Problem of Overfitting. Journal of Chemical Information and Computer Sciences. 2004;44(1):1-12. https://doi.org/10.1021/ci0342472
  45. Fawcett T. An introduction to ROC analysis. Pattern Recognition Letters. 2006;27(8):861-874. https://doi.org/10.1016/j.patrec.2005.10.010

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