Loss of Cardioprotective Effects at the ADAMTS7 Locus as a Result of Gene-Smoking Interactions

Circulation

Volumn 135, Issue 24, 2017, Pages 2336-2353

  Saleheen, Danish ^a,b   Zhao, Wei ^a   Young, Robin ^c   Nelson, Christopher P ^d   Ho, Weangkee ^e   Ferguson, Jane F ^e,f   Rasheed, Asif ^b   Ou, Kristy ^g   Nurnberg, Sylvia T ^g,aw   Bauer, Robert C ^h,n   Goel, Anuj ⁱ   Do, Ron ^g,j   Stewart, Alexandre F R ^h,k   Hartiala, Jaana ^i,l   Zhang, Weihua ^m   Thorleifsson, Gudmar ⁿ   Strawbridge, Rona J ^l,o   Sinisalo, Juha ^p   Kanoni, Stavroula ^q,ag   Sedaghat, Sanaz ^r   Marouli, Eirini ^o,s   Kristiansson, Kati ^t,ah   Zhao, Jing Hua ^s,u   Scott, Robert ^s,v   Gauguier, Dominique ^w,ai   Shah, Svati H ^u,x   Smith, Albert Vernon ^v,y   Van Zuydam, Natalie ^z,aj   Cox, Amanda J ^x,aa   Willenborg, Christina ^x,y,ak   Kessler, Thorsten ^al   Zeng, Lingyao ^z   Province, Michael A ^ac   Ganna, Andrea ^ad   Lind, Lars ^ab   Pedersen, Nancy L ^am   White, Charles C ^an   Joensuu, Anni ^af   Kleber, Marcus Edi ^ao   Hall, Alistair S ^l   März, Winfried ^ap   Salomaa, Veikko ^ae   O'Donnell, Christopher ^af   Ingelsson, Erik ^l   Feitosa, Mary F ^d   Erdmann, Jeanette ^aq   Bowden, Donald W ^x,as   Palmer, Colin N A ^w,at   Gudnason, Vilmundur ^v,ah   Faire, Ulf De ^ar   Zalloua, Pierre ^au   Wareham, Nicholas ^ad   Thompson, John R ^ad   Kuulasmaa, Kari ^av   Dedoussis, George ^a,q   Perola, Markus ^aw   Dehghan, Abbas ^e   Chambers, John C ^j,k   Kooner, Jaspal ⁱ   Allayee, Hooman ^k   Deloukas, Panos ^o   McPherson, Ruth ^h,j   Stefansson, Kari ^o   Schunkert, Heribert ^t   Kathiresan, Sekar ^a,ad,av   Farrall, Martin ^ai   Marcel Frossard, Philippe ^ak   Rader, Daniel J ^a,aw   Samani, Nilesh J ^d   Reilly, Muredach P ⁿ   more..

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b Center for Non Communicable Diseases   (Pakistan)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^d UNIVERSITY OF LEICESTER   (United Kingdom)

^e VANDERBILT UNIVERSITY   (United States)

^f UNIVERSITY OF OXFORD   (United Kingdom)

^g MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^h UNIVERSITY OF OTTAWA HEART INSTITUTE   (Canada)

ⁱ UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^j IMPERIAL COLLEGE LONDON   (United Kingdom)

^k EALING HOSPITAL NHS TRUST   (United Kingdom)

^l KAROLINSKA INSTITUTE   (Sweden)

^m HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

ⁿ Department of Medicine   (United States)

^o QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^p ERASMUS MEDICAL CENTER   (Netherlands)

^q HAROKOPIO UNIVERSITY   (Greece)

^r NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^s UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^t CENTRE DE RECHERCHE DES CORDELIERS   (France)

^u DUKE UNIVERSITY MEDICAL CENTER   (United States)

^v ICELANDIC HEART ASSOCIATION   (Iceland)

^w UNIVERSITY OF DUNDEE   (United Kingdom)

^x WAKE FOREST SCHOOL OF MEDICINE   (United States)

^y UNIVERSITY OF LÜBECK   (Germany)

^z DZHK GERMAN CENTRE FOR CARDIOVASCULAR RESEARCH   (Germany)

^aa TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^ab TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^ac WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^ad MASSACHUSETTS GENERAL HOSPITAL   (United States)

^ae BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^af UPPSALA UNIVERSITY   (Sweden)

^ag BOSTON UNIVERSITY   (United States)

^ah UNIVERSITY OF ICELAND   (Iceland)

^ai UNIVERSITY OF HELSINKI   (Finland)

^aj UNIVERSITY OF HEIDELBERG   (Germany)

^ak UNIVERSITY OF LEEDS   (United Kingdom)

^al SYNLAB ACADEMY   (Germany)

^am MEDICAL UNIVERSITY OF GRAZ   (Austria)

^an NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^ao STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^ap LEBANESE AMERICAN UNIVERSITY   (Lebanon)

^aq IMPERIAL COLLEGE HEALTHCARE NHS TRUST   (United Kingdom)

^ar NATIONAL HEART AND LUNG INSTITUTE   (United Kingdom)

^as KING ABDULAZIZ UNIVERSITY   (Saudi Arabia)

^at DECODE GENETICS   (Iceland)

^au HARVARD UNIVERSITY   (United States)

^av HARVARD MEDICAL SCHOOL   (United States)

^aw UNIVERSITY OF PENNSYLVANIA   (United States)

more..

Author keywords

ADAMTS7 protein; coronary artery disease; gene environment interaction; genome wide association study; smoking

Indexed keywords

ADAMTS7 PROTEIN; CHRNB4 A3 A5 PROTEIN; CIGARETTE SMOKE; MESSENGER RNA; PROTEIN; UNCLASSIFIED DRUG; ADAMTS7 PROTEIN, HUMAN;

AORTIC ENDOTHELIAL CELL; ARTICLE; CASE CONTROL STUDY; CHROMOSOME 15Q; CHROMOSOME 15Q25.1; COMPARATIVE STUDY; CONTROLLED STUDY; CORONARY ARTERY MUSCLE; CORONARY RISK; ENVIRONMENTAL EXPOSURE; GENE EXPRESSION; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE ENVIRONMENT INTERACTION; GENOTYPE PHENOTYPE CORRELATION; HEART PROTECTION; HUMAN; HUMAN CELL; ISCHEMIC HEART DISEASE; LYMPHOBLASTOID CELL LINE; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; QUANTITATIVE TRAIT LOCUS; SINGLE NUCLEOTIDE POLYMORPHISM; SMOKING; ADULT; ADVERSE EFFECTS; AGED; CELL CULTURE; CORONARY BLOOD VESSEL; CORONARY DISEASE; FEMALE; GENE LOCUS; GENETIC PREDISPOSITION; GENETICS; MALE; MIDDLE AGED; PATHOLOGY; PHYSIOLOGY; VERY ELDERLY;

ADAMTS7 PROTEIN; ADULT; AGED; AGED, 80 AND OVER; CELLS, CULTURED; CORONARY DISEASE; CORONARY VESSELS; FEMALE; GENE-ENVIRONMENT INTERACTION; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; SMOKING;

EID: 85020720919     PISSN: 00097322     EISSN: 15244539     Source Type: Journal    
DOI: 10.1161/CIRCULATIONAHA.116.022069     Document Type: Article

References (37)

1. Mangino M, Spector T. Understanding coronary artery disease using twin studies. Heart. 2013;99:373-375. doi: 10. 1136/ heartjnl-2012-303001.
2. Lusis AJ, Mar R, Pajukanta P. Genetics of atherosclerosis. Annu Rev Genomics Hum Genet. 2004;5:189-218. doi: 10. 1146/annurev. genom. 5. 061903. 175930.
3. Teo KK, Ounpuu S, Hawken S, Pandey MR, Valentin V, Hunt D, Diaz R, Rashed W, Freeman R, Jiang L, Zhang X, Yusuf S; INTERHEART Study Investigators Tobacco use and risk of myocardial infarction in 52 countries in the INTERHEART study: a case-control study. Lancet. 2006;368:647-658. doi: 10. 1016/S0140-6736(06)69249-0.
4. Doll R, Peto R, Boreham J, Sutherland I. Mortality in relation to smoking: 50 years' observations on male British doctors. BMJ. 2004;328:1519. doi: 10. 1136/bmj. 38142. 554479. AE.
5. Huxley RR, Woodward M. Cigarette smoking as a risk factor for coronary heart disease in women compared with men: a systematic review and meta-analysis of prospective cohort studies. Lancet. 2011;378:1297-1305. doi: 10. 1016/S0140-6736(11)60781-2.
6. Ezzati M, Lopez AD. Estimates of global mortality attributable to smoking in 2000. Lancet. 2003;362:847-852. doi: 10. 1016/ S0140-6736(03)14338-3.
7. CARDIoGRAMplusC4D Consortium., Deloukas P, Kanoni S, Willenborg C, Farrall M, Assimes TL, Thompson JR, Ingelsson E, Saleheen D, Erdmann J, Goldstein BA, Stirrups K, König IR, Cazier JB, Johansson A, Hall AS, Lee JY, Willer CJ, Chambers JC, Esko T, Folkersen L, Goel A, Grundberg E, Havulinna AS, Ho WK, Hopewell JC, Eriksson N, Kleber ME, Kristiansson K, Lundmark P, Lyytikäinen LP, Rafelt S, Shungin D, Strawbridge RJ, Thorleifsson G, Tikkanen E, Van Zuydam N, Voight BF, Waite LL, Zhang W, Ziegler A, Absher D, Altshuler D, Balmforth AJ, Barroso I, Braund PS, Burgdorf C, Claudi-Boehm S, Cox D, Dimitriou M, Do R; DIAGRAM Consortium.; CARDIOGENICS Consortium., Doney AS, El Mokhtari N, Eriksson P, Fischer K, Fontanillas P, Franco-Cereceda A, Gigante B, Groop L, Gustafsson S, Hager J, Hallmans G, Han BG, Hunt SE, Kang HM, Illig T, Kessler T, Knowles JW, Kolovou G, Kuusisto J, Langenberg C, Langford C, Leander K, Lokki ML, Lundmark A, McCarthy MI, Meisinger C, Melander O, Mihailov E, Maouche S, Morris AD, Müller-Nurasyid M; MuTHER Consortium., Nikus K, Peden JF, Rayner NW, Rasheed A, Rosinger S, Rubin D, Rumpf MP, Schäfer A, Sivananthan M, Song C, Stewart AF, Tan ST, Thorgeirsson G, van der Schoot CE, Wagner PJ; Wellcome Trust Case Control Consortium., Wells GA, Wild PS, Yang TP, Amouyel P, Arveiler D, Basart H, Boehnke M, Boerwinkle E, Brambilla P, Cambien F, Cupples AL, de Faire U, Dehghan A, Diemert P, Epstein SE, Evans A, Ferrario MM, Ferrières J, Gauguier D, Go AS, Goodall AH, Gudnason V, Hazen SL, Holm H, Iribarren C, Jang Y, Kähönen M, Kee F, Kim HS, Klopp N, Koenig W, Kratzer W, Kuulasmaa K, Laakso M, Laaksonen R, Lee JY, Lind L, Ouwehand WH, Parish S, Park JE, Pedersen NL, Peters A, Quertermous T, Rader DJ, Salomaa V, Schadt E, Shah SH, Sinisalo J, Stark K, Stefansson K, Trégouët DA, Virtamo J, Wallentin L, Wareham N, Zimmermann ME, Nieminen MS, Hengstenberg C, Sandhu MS, Pastinen T, Syvänen AC, Hovingh GK, Dedoussis G, Franks PW, Lehtimäki T, Metspalu A, Zalloua PA, Siegbahn A, Schreiber S, Ripatti S, Blankenberg SS, Perola M, Clarke R, Boehm BO, O'Donnell C, Reilly MP, März W, Collins R, Kathiresan S, Hamsten A, Kooner JS, Thorsteinsdottir U, Danesh J, Palmer CN, Roberts R, Watkins H, Schunkert H, Samani NJ. Large-scale association analysis identifies new risk loci for coronary artery disease. Nat Genet. 2013;45:25-33.
8. Coronary Artery Disease (C4D) Genetics Consortium. A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. Nat Genet. 2011;43:339-344.
9. Schunkert H, König IR, Kathiresan S, Reilly MP, Assimes TL, Holm H, Preuss M, Stewart AF, Barbalic M, Gieger C, Absher D, Aherrahrou Z, Allayee H, Altshuler D, Anand SS, Andersen K, Anderson JL, Ardissino D, Ball SG, Balmforth AJ, Barnes TA, Becker DM, Becker LC, Berger K, Bis JC, Boekholdt SM, Boerwinkle E, Braund PS, Brown MJ, Burnett MS, Buysschaert I, Carlquist JF, Chen L, Cichon S, Codd V, Davies RW, Dedoussis G, Dehghan A, Demissie S, Devaney JM, Diemert P, Do R, Doering A, Eifert S, Mokhtari NE, Ellis SG, Elosua R, Engert JC, Epstein SE, de Faire U, Fischer M, Folsom AR, Freyer J, Gigante B, Girelli D, Gretarsdottir S, Gudnason V, Gulcher JR, Halperin E, Hammond N, Hazen SL, Hofman A, Horne BD, Illig T, Iribarren C, Jones GT, Jukema JW, Kaiser MA, Kaplan LM, Kastelein JJ, Khaw KT, Knowles JW, Kolovou G, Kong A, Laaksonen R, Lambrechts D, Leander K, Lettre G, Li M, Lieb W, Loley C, Lotery AJ, Mannucci PM, Maouche S, Martinelli N, McKeown PP, Meisinger C, Meitinger T, Melander O, Merlini PA, Mooser V, Morgan T, Mühleisen TW, Muhlestein JB, Münzel T, Musunuru K, Nahrstaedt J, Nelson CP, Nöthen MM, Olivieri O, Patel RS, Patterson CC, Peters A, Peyvandi F, Qu L, Quyyumi AA, Rader DJ, Rallidis LS, Rice C, Rosendaal FR, Rubin D, Salomaa V, Sampietro ML, Sandhu MS, Schadt E, Schäfer A, Schillert A, Schreiber S, Schrezenmeir J, Schwartz SM, Siscovick DS, Sivananthan M, Sivapalaratnam S, Smith A, Smith TB, Snoep JD, Soranzo N, Spertus JA, Stark K, Stirrups K, Stoll M, Tang WH, Tennstedt S, Thorgeirsson G, Thorleifsson G, Tomaszewski M, Uitterlinden AG, van Rij AM, Voight BF, Wareham NJ, Wells GA, Wichmann HE, Wild PS, Willenborg C, Witteman JC, Wright BJ, Ye S, Zeller T, Ziegler A, Cambien F, Goodall AH, Cupples LA, Quertermous T, März W, Hengstenberg C, Blankenberg S, Ouwehand WH, Hall AS, Deloukas P, Thompson JR, Stefansson K, Roberts R, Thorsteinsdottir U, O'Donnell CJ, McPherson R, Erdmann J, Samani NJ; Cardiogenics; CARDIoGRAM Consortium. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet. 2011;43:333-338. doi: 10. 1038/ng. 784.
10. Tobacco and Genetics Consortium. Genome-wide meta-analyses identify multiple loci associated with smoking behavior. Nat Genet. 2010;42:441-447.
11. International HapMap 3 Consortium., Altshuler DM, Gibbs RA, Peltonen L, Altshuler DM, Gibbs RA, Peltonen L, Dermitzakis E, Schaffner SF, Yu F, Peltonen L, Dermitzakis E, Bonnen PE, Altshuler DM, Gibbs RA, de Bakker PI, Deloukas P, Gabriel SB, Gwilliam R, Hunt S, Inouye M, Jia X, Palotie A, Parkin M, Whittaker P, Yu F, Chang K, Hawes A, Lewis LR, Ren Y, Wheeler D, Gibbs RA, Muzny DM, Barnes C, Darvishi K, Hurles M, Korn JM, Kristiansson K, Lee C, McCarrol SA, Nemesh J, Dermitzakis E, Keinan A, Montgomery SB, Pollack S, Price AL, Soranzo N, Bonnen PE, Gibbs RA, Gonzaga-Jauregui C, Keinan A, Price AL, Yu F, Anttila V, Brodeur W, Daly MJ, Leslie S, McVean G, Moutsianas L, Nguyen H, Schaffner SF, Zhang Q, Ghori MJ, McGinnis R, McLaren W, Pollack S, Price AL, Schaffner SF, Takeuchi F, Grossman SR, Shlyakhter I, Hostetter EB, Sabeti PC, Adebamowo CA, Foster MW, Gordon DR, Licinio J, Manca MC, Marshall PA, Matsuda I, Ngare D, Wang VO, Reddy D, Rotimi CN, Royal CD, Sharp RR, Zeng C, Brooks LD, McEwen JE. Integrating common and rare genetic variation in diverse human populations. Nature. 2010;467:52-58.
12. Humphries SE, Talmud PJ, Hawe E, Bolla M, Day IN, Miller GJ. Apolipoprotein E4 and coronary heart disease in middle-aged men who smoke: a prospective study. Lancet. 2001;358:115-119. doi: 10. 1016/S0140-6736(01)05330-2.
13. Grammer TB, Hoffmann MM, Scharnagl H, Kleber ME, Silbernagel G, Pilz S, Tomaschitz A, Lerchbaum E, Siekmeier R, März W. Smoking, apolipoprotein E genotypes, and mortality (the Ludwigshafen RIsk and Cardiovascular Health study). Eur Heart J. 2013;34:1298-1305. doi: 10. 1093/eurheartj/eht001.
14. Gustavsson J, Mehlig K, Leander K, Strandhagen E, Björck L, Thelle DS, Lissner L, Blennow K, Zetterberg H, Nyberg F. Interaction of apolipoprotein E genotype with smoking and physical inactivity on coronary heart disease risk in men and women. Atherosclerosis. 2012;220:486-492. doi: 10. 1016/j. atherosclerosis. 2011. 10. 011.
15. Saleheen D, Zaidi M, Rasheed A, Ahmad U, Hakeem A, Murtaza M, Kayani W, Faruqui A, Kundi A, Zaman KS, Yaqoob Z, Cheema LA, Samad A, Rasheed SZ, Mallick NH, Azhar M, Jooma R, Gardezi AR, Memon N, Ghaffar A, Fazal-ur-Rehman, Khan N, Shah N, Ali Shah A, Samuel M, Hanif F, Yameen M, Naz S, Sultana A, Nazir A, Raza S, Shazad M, Nasim S, Javed MA, Ali SS, Jafree M, Nisar MI, Daood MS, Hussain A, Sarwar N, Kamal A, Deloukas P, Ishaq M, Frossard P, Danesh J. The Pakistan Risk of Myocardial Infarction Study: a resource for the study of genetic, lifestyle and other determinants of myocardial infarction in South Asia. Eur J Epidemiol. 2009;24:329-338. doi: 10. 1007/s10654-009-9334-y.
16. Teslovich TM, Musunuru K, Smith AV, Edmondson AC, Stylianou IM, Koseki M, Pirruccello JP, Ripatti S, Chasman DI, Willer CJ, Johansen CT, Fouchier SW, Isaacs A, Peloso GM, Barbalic M, Ricketts SL, Bis JC, Aulchenko YS, Thorleifsson G, Feitosa MF, Chambers J, Orho-Melander M, Melander O, Johnson T, Li X, Guo X, Li M, Shin Cho Y, Jin Go M, Jin Kim Y, Lee JY, Park T, Kim K, Sim X, Twee-Hee Ong R, Croteau-Chonka DC, Lange LA, Smith JD, Song K, Hua Zhao J, Yuan X, Luan J, Lamina C, Ziegler A, Zhang W, Zee RY, Wright AF, Witteman JC, Wilson JF, Willemsen G, Wichmann HE, Whitfield JB, Waterworth DM, Wareham NJ, Waeber G, Vollenweider P, Voight BF, Vitart V, Uitterlinden AG, Uda M, Tuomilehto J, Thompson JR, Tanaka T, Surakka I, Stringham HM, Spector TD, Soranzo N, Smit JH, Sinisalo J, Silander K, Sijbrands EJ, Scuteri A, Scott J, Schlessinger D, Sanna S, Salomaa V, Saharinen J, Sabatti C, Ruokonen A, Rudan I, Rose LM, Roberts R, Rieder M, Psaty BM, Pramstaller PP, Pichler I, Perola M, Penninx BW, Pedersen NL, Pattaro C, Parker AN, Pare G, Oostra BA, O'Donnell CJ, Nieminen MS, Nickerson DA, Montgomery GW, Meitinger T, McPherson R, McCarthy MI, McArdle W, Masson D, Martin NG, Marroni F, Mangino M, Magnusson PK, Lucas G, Luben R, Loos RJ, Lokki ML, Lettre G, Langenberg C, Launer LJ, Lakatta EG, Laaksonen R, Kyvik KO, Kronenberg F, König IR, Khaw KT, Kaprio J, Kaplan LM, Johansson A, Jarvelin MR, Janssens AC, Ingelsson E, Igl W, Kees Hovingh G, Hottenga JJ, Hofman A, Hicks AA, Hengstenberg C, Heid IM, Hayward C, Havulinna AS, Hastie ND, Harris TB, Haritunians T, Hall AS, Gyllensten U, Guiducci C, Groop LC, Gonzalez E, Gieger C, Freimer NB, Ferrucci L, Erdmann J, Elliott P, Ejebe KG, Döring A, Dominiczak AF, Demissie S, Deloukas P, de Geus EJ, de FaireU, Crawford G, Collins FS, Chen YD, Caulfield MJ, Campbell H, Burtt NP, Bonnycastle LL, Boomsma DI, Boekholdt SM, Bergman RN, Barroso I, Bandinelli S, Ballantyne CM, Assimes TL, Quertermous T, Altshuler D, Seielstad M, Wong TY, Tai ES, Feranil AB, Kuzawa CW, Adair LS, Taylor HA Jr, Borecki IB, Gabriel SB, Wilson JG, Holm H, Thorsteinsdottir U, Gudnason V, Krauss RM, Mohlke KL, Ordovas JM, Munroe PB, Kooner JS, Tall AR, Hegele RA, Kastelein JJ, Schadt EE, Rotter JI, Boerwinkle E, Strachan DP, Mooser V, Stefansson K, Reilly MP, Samani NJ, Schunkert H, Cupples LA, Sandhu MS, Ridker PM, Rader DJ, van Duijn CM, Peltonen L, Abecasis GR, Boehnke M, Kathiresan S. Biological, clinical and population relevance of 95 loci for blood lipids. Nature. 2010;466:707-713. doi: 10. 1038/nature09270.
17. Yang J, Ferreira T, Morris AP, Medland SE, Madden PA, Heath AC, Martin NG, Montgomery GW, Weedon MN, Loos RJ, Frayling TM, McCarthy MI, Hirschhorn JN, Goddard ME, Visscher PM; Genetic Investigation of ANthropometric Traits (GIANT) Consortium; DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium. Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits. Nat Genet. 2012;44:369-75, S1. doi: 10. 1038/ ng. 2213.
18. Yang J, Lee SH, Goddard ME, Visscher PM. Genome-wide complex trait analysis (GCTA): methods, data analyses, and interpretations. Methods Mol Biol. 2013;1019:215-236. doi: 10. 1007/978-1-62703-447-09.
19. Keller MF, Ferrucci L, Singleton AB, Tienari PJ, Laaksovirta H, Restagno G, Chiò A, Traynor BJ, Nalls MA. Genome-wide analysis of the heritability of amyotrophic lateral sclerosis. JAMA Neurol. 2014;71:1123-1134. doi: 10. 1001/jamaneurol. 2014. 1184.
20. van Rheenen W, Shatunov A, Dekker AM, McLaughlin RL, Diekstra FP, Pulit SL, van der Spek RA, Võsa U, de Jong S, Robinson MR, Yang J, Fogh I, van Doormaal PT, Tazelaar GH, Koppers M, Blokhuis AM, Sproviero W, Jones AR, Kenna KP, van Eijk KR, Harschnitz O, Schellevis RD, Brands WJ, Medic J, Menelaou A, Vajda A, Ticozzi N, Lin K, Rogelj B, Vrabec K, Ravnik-Glava? M, Koritnik B, Zidar J, Leonardis L, Grošelj LD, Millecamps S, Salachas F, Meininger V, de Carvalho M, Pinto S, Mora JS, Rojas-García R, Polak M, Chandran S, Colville S, Swingler R, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Pittman A, Sidle K, Fratta P, Malaspina A, Topp S, Petri S, Abdulla S, Drepper C, Sendtner M, Meyer T, Ophoff RA, Staats KA, Wiedau-Pazos M, Lomen-Hoerth C, Van Deerlin VM, Trojanowski JQ, Elman L, McCluskey L, Basak AN, Tunca C, Hamzeiy H, Parman Y, Meitinger T, Lichtner P, Radivojkov-Blagojevic M, Andres CR, Maurel C, Bensimon G, Landwehrmeyer B, Brice A, Payan CA, Saker-Delye S, Dürr A, Wood NW, Tittmann L, Lieb W, Franke A, Rietschel M, Cichon S, Nöthen MM, Amouyel P, Tzourio C, Dartigues JF, Uitterlinden AG, Rivadeneira F, Estrada K, Hofman A, Curtis C, Blauw HM, van der Kooi AJ, de Visser M, Goris A, Weber M, Shaw CE, Smith BN, Pansarasa O, Cereda C, Del Bo R, Comi GP, D'Alfonso S, Bertolin C, Sorarù G, Mazzini L, Pensato V, Gellera C, Tiloca C, Ratti A, Calvo A, Moglia C, Brunetti M, Arcuti S, Capozzo R, Zecca C, Lunetta C, Penco S, Riva N, Padovani A, Filosto M, Muller B, Stuit RJ, Blair I, Zhang K, McCann EP, Fifita JA, Nicholson GA, Rowe DB, Pamphlett R, Kiernan MC, Grosskreutz J, Witte OW, Ringer T, Prell T, Stubendorff B, Kurth I, Hübner CA, Leigh PN, Casale F, Chio A, Beghi E, Pupillo E, Tortelli R, Logroscino G, Powell J, Ludolph AC, Weishaupt JH, Robberecht W, Van Damme P, Franke L, Pers TH, Brown RH, Glass JD, Landers JE, Hardiman O, Andersen PM, Corcia P, Vourc'h P, Silani V, Wray NR, Visscher PM, de Bakker PI, van Es MA, Pasterkamp RJ, Lewis CM, Breen G, Al-Chalabi A, van den Berg LH, Veldink JH; PARALS Registry; SLALOM Group; SLAP Registry; FALS Sequencing Consortium; SLAGEN Consortium; NNIPPS Study Group. Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. Nat Genet. 2016;48:1043-1048. doi: 10. 1038/ng. 3622.
21. Torres JM, Gamazon ER, Parra EJ, Below JE, Valladares-Salgado A, Wacher N, Cruz M, Hanis CL, Cox NJ. Cross-tissue and tissue-specific eQTLs: partitioning the heritability of a complex trait. Am J Hum Genet. 2014;95:521-534. doi: 10. 1016/j. ajhg. 2014. 10. 001.
22. Bailey JN, Loomis SJ, Kang JH, Allingham RR, Gharahkhani P, Khor CC, Burdon KP, Aschard H, Chasman DI, Igo RP Jr, Hysi PG, Glastonbury CA, Ashley-Koch A, Brilliant M, Brown AA, Budenz DL, Buil A, Cheng CY, Choi H, Christen WG, Curhan G, De Vivo I, Fingert JH, Foster PJ, Fuchs C, Gaasterland D, Gaasterland T, Hewitt AW, Hu F, Hunter DJ, Khawaja AP, Lee RK, Li Z, Lichter PR, Mackey DA, McGuffin P, Mitchell P, Moroi SE, Perera SA, Pepper KW, Qi Q, Realini T, Richards JE, Ridker PM, Rimm E, Ritch R, Ritchie M, Schuman JS, Scott WK, Singh K, Sit AJ, Song YE, Tamimi RM, Topouzis F, Viswanathan AC, Verma SS, Vollrath D, Wang JJ, Weisschuh N, Wissinger B, Wollstein G, Wong TY, Yaspan BL, Zack DJ, Zhang K, Study EN, Weinreb RN, Pericak-Vance MA, Small K, Hammond CJ, Aung T, Liu Y, Vithana EN, MacGregor S, Craig JE, Kraft P, Howell G, Hauser MA, Pasquale LR, Haines JL, Wiggs JL; ANZRAG Consortium. Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma. Nat Genet. 2016;48:189-194. doi: 10. 1038/ng. 3482.
23. GTEx Consortium. The Genotype-Tissue Expression (GTEx) project. Nat Genet. 2013;45:580-5.
24. Grundberg E, Small KS, Hedman ÅK, Nica AC, Buil A, Keildson S, Bell JT, Yang TP, Meduri E, Barrett A, Nisbett J, Sekowska M, Wilk A, Shin SY, Glass D, Travers M, Min JL, Ring S, Ho K, Thorleifsson G, Kong A, Thorsteindottir U, Ainali C, Dimas AS, Hassanali N, Ingle C, Knowles D, Krestyaninova M, Lowe CE, Di Meglio P, Montgomery SB, Parts L, Potter S, Surdulescu G, Tsaprouni L, Tsoka S, Bataille V, Durbin R, Nestle FO, O'Rahilly S, Soranzo N, Lindgren CM, Zondervan KT, Ahmadi KR, Schadt EE, Stefansson K, Smith GD, McCarthy MI, Deloukas P, Dermitzakis ET, Spector TD; Multiple Tissue Human Expression Resource (MuTHER) Consortium. Mapping cis-and trans-regulatory effects across multiple tissues in twins. Nat Genet. 2012;44:1084-1089. doi: 10. 1038/ ng. 2394.
25. Erbilgin A, Civelek M, Romanoski CE, Pan C, Hagopian R, Berliner JA, Lusis AJ. Identification of CAD candidate genes in GWAS loci and their expression in vascular cells. J Lipid Res. 2013;54:1894-1905. doi: 10. 1194/jlr. M037085.
26. ENCODE Project Consortium. A user's guide to the encyclopedia of DNA elements (ENCODE). PLoS Biol. 2011;9:e1001046.
27. Miller CL, Anderson DR, Kundu RK, Raiesdana A, Nürnberg ST, Diaz R, Cheng K, Leeper NJ, Chen CH, Chang IS, Schadt EE, Hsiung CA, Assimes TL, Quertermous T. Disease-related growth factor and embryonic signaling pathways modulate an enhancer of TCF21 expression at the 6q23. 2 coronary heart disease locus. PLoS Genet. 2013;9:e1003652. doi: 10. 1371/journal. pgen. 1003652.
28. Dobin A, Davis CA, Schlesinger F, Drenkow J, Zaleski C, Jha S, Batut P, Chaisson M, Gingeras TR. STAR: ultrafast universal RNAseq aligner. Bioinformatics. 2013;29:15-21. doi: 10. 1093/bioinformatics/ bts635.
29. Kooner JS, Saleheen D, Sim X, Sehmi J, Zhang W, Frossard P, Been LF, Chia KS, Dimas AS, Hassanali N, Jafar T, Jowett JB, Li X, Radha V, Rees SD, Takeuchi F, Young R, Aung T, Basit A, Chidambaram M, Das D, Grundberg E, Hedman AK, Hydrie ZI, Islam M, Khor CC, Kowlessur S, Kristensen MM, Liju S, Lim WY, Matthews DR, Liu J, Morris AP, Nica AC, Pinidiyapathirage JM, Prokopenko I, Rasheed A, Samuel M, Shah N, Shera AS, Small KS, Suo C, Wickremasinghe AR, Wong TY, Yang M, Zhang F, Abecasis GR, Barnett AH, Caulfield M, Deloukas P, Frayling TM, Froguel P, Kato N, Katulanda P, Kelly MA, Liang J, Mohan V, Sanghera DK, Scott J, Seielstad M, Zimmet PZ, Elliott P, Teo YY, McCarthy MI, Danesh J, Tai ES, Chambers JC; DIAGRAM; MuTHER. Genome-wide associa tion study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci. Nat Genet. 2011;43:984-989. doi: 10. 1038/ng. 921.
30. Saade S, Cazier JB, Ghassibe-Sabbagh M, Youhanna S, Badro DA, Kamatani Y, Hager J, Yeretzian JS, El-Khazen G, Haber M, Salloum AK, Douaihy B, Othman R, Shasha N, Kabbani S, Bayeh HE, Chammas E, Farrall M, Gauguier D, Platt DE, Zalloua PA; FGENTCARD consortium. Large scale association analysis identifies three susceptibility loci for coronary artery disease. PLoS One. 2011;6:e29427. doi: 10. 1371/journal. pone. 0029427.
31. Tsaprouni LG, Yang TP, Bell J, Dick KJ, Kanoni S, Nisbet J, Viñuela A, Grundberg E, Nelson CP, Meduri E, Buil A, Cambien F, Hengstenberg C, Erdmann J, Schunkert H, Goodall AH, Ouwehand WH, Dermitzakis E, Spector TD, Samani NJ, Deloukas P. Cigarette smoking reduces DNA methylation levels at multiple genomic loci but the effect is partially reversible upon cessation. Epigenetics. 2014;9:1382-1396. doi: 10. 4161/15592294. 2014. 969637.
32. Starke RM, Ali MS, Jabbour PM, Tjoumakaris SI, Gonzalez F, Hasan DM, Rosenwasser RH, Owens GK, Koch WJ, Dumont AS. Cigarette smoke modulates vascular smooth muscle phenotype: implications for carotid and cerebrovascular disease. PLoS One. 2013;8:e71954. doi: 10. 1371/journal. pone. 0071954.
33. Bauer RC, Tohyama J, Cui J, Cheng L, Yang J, Zhang X, Ou K, Paschos GK, Zheng XL, Parmacek MS, Rader DJ, Reilly MP. Knockout of Adamts7, a novel coronary artery disease locus in humans, reduces atherosclerosis in mice. Circulation. 2015;131:1202-1213. doi: 10. 1161/CIRCULATIONAHA. 114. 012669.
34. Holmes MV, Frikke-Schmidt R, Melis D, Luben R, Asselbergs FW, Boer JM, Cooper J, Palmen J, Horvat P, Engmann J, Li KW, Onland-Moret NC, Hofker MH, Kumari M, Keating BJ, Hubacek JA, Adamkova V, Kubinova R, Bobak M, Khaw KT, Nordestgaard BG, Wareham N, Humphries SE, Langenberg C, Tybjaerg-Hansen A, Talmud PJ. A systematic review and meta-analysis of 130, 000 individuals shows smoking does not modify the association of APOE genotype on risk of coronary heart disease. Atherosclerosis. 2014;237:5-12. doi: 10. 1016/j. atherosclerosis. 2014. 07. 038.
35. Pu X, Xiao Q, Kiechl S, Chan K, Ng FL, Gor S, Poston RN, Fang C, Patel A, Senver EC, Shaw-Hawkins S, Willeit J, Liu C, Zhu J, Tucker AT, Xu Q, Caulfield MJ, Ye S. ADAMTS7 cleavage and vascular smooth muscle cell migration is affected by a coronary-arterydisease-associated variant. Am J Hum Genet. 2013;92:366-374. doi: 10. 1016/j. ajhg. 2013. 01. 012.
36. Wang L, Zheng J, Bai X, Liu B, Liu CJ, Xu Q, Zhu Y, Wang N, Kong W, Wang X. ADAMTS-7 mediates vascular smooth muscle cell migration and neointima formation in balloon-injured rat arteries. Circ Res. 2009;104:688-698. doi: 10. 1161/CIRCRESAHA. 108. 188425.
37. Hutter CM, Mechanic LE, Chatterjee N, Kraft P, Gillanders EM; NCI Gene-Environment Think Tank. Gene-environment interactions in cancer epidemiology: a National Cancer Institute Think Tank report. Genet Epidemiol. 2013;37:643-657. doi: 10. 1002/gepi. 21756.