{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Rannikmae K"],"funding":["NCATS NIH HHS","NIA NIH HHS","NIDDK NIH HHS","NHLBI NIH HHS","National Institute for Health Research (NIHR)","NINDS NIH HHS"],"pagination":["1829-1839"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5664302"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["89(17)"],"pubmed_abstract":["<h4>Objective</h4>To determine whether common variants in familial cerebral small vessel disease (SVD) genes confer risk of sporadic cerebral SVD.<h4>Methods</h4>We meta-analyzed genotype data from individuals of European ancestry to determine associations of common single nucleotide polymorphisms (SNPs) in 6 familial cerebral SVD genes (<i>COL4A1</i>, <i>COL4A2</i>, <i>NOTCH3</i>, <i>HTRA1</i>, <i>TREX1</i>, and <i>CECR1</i>) with intracerebral hemorrhage (ICH) (deep, lobar, all; 1,878 cases, 2,830 controls) and ischemic stroke (IS) (lacunar, cardioembolic, large vessel disease, all; 19,569 cases, 37,853 controls). We applied data quality filters and set statistical significance thresholds accounting for linkage disequilibrium and multiple testing.<h4>Results</h4>A locus in <i>COL4A2</i> "],"journal":["Neurology"],"pubmed_title":["<i>COL4A2</i> is associated with lacunar ischemic stroke and deep ICH: Meta-analyses among 21,500 cases and 40,600 controls."],"pmcid":["PMC5664302"],"funding_grant_id":["U01 NS069208","U01 AG009740","K23 NS086873","U01 NS036695","UL1 TR001863","KL2 TR001429","R01 NS082285","NF-SI-0512-10019","R01 NS059727","P30 DK072488","K23 NS064052","K23 NS100816","R01 HL088521","R01 NS086905"],"pubmed_authors":["Kappelle LJ","Psaty BM","Wei-Min Chen F","Maguire J","Sacco RL","Wood NW","Seiler S","Mathew CG","Mosley TH","Wiggins KL","Rost NS","Anderson CD","Wang XQ","Bsc CS","Holliday EG","Gwinn K","Trembath RC","Weir DR","Woo D","Hankey GJ","Blackwell JM","Poole D","Cuadrado-Godia E","Xu H","Bartz TM","Strauch K","Palmer CN","Sparks MJ","Berger K","Gretarsdottir S","Redfors P","Jackson RD","Thorsteinsdottir U","Wloch-Kopec D","Schmidt CO","Kardia SL","Waldenberger M","Schurks M","Zhao W","Battey T","Thorsteindottir U","Giese AK","Ribases M","Sivakumaran V","Howard G","Donnelly P","Blanton SH","Meschia JF","Levi C","Viswanathan AC","Rannikmae K","Boncoraglio GB","Cheng YC","Kleindorfer DO","Rasheed A","Levi CR","Labovitz D","Brown MA","Rodriguez-Campello A","Pera J","Wong Q","Laurie CC","Stine OC","Laurie CA","Rabionet R","Rexrode K","Bis JC","Bevan S","Faul JD","Lee CH","Rose LM","Rosenbaum D","DeStefano AL","Arsava EM","P J","Mitchell BD","Fernandez-Cadenas I","Peters A","Sturm J","Thorleifsson G","Cotlarciuc I","de Bakker PIW","Rich SS","Burgess AI","Rundek T","Rolfs A","Lee JM","Horenstein RB","Dong C","Ay H","Palleja XE","Spencer CC","Gieger C","Sharma P","Dawson J","Grittner U","Wassertheil-Smoller S","Stroke Genetics Network (SiGN), METASTROKE Collaboration, and International Stroke Genetics Consortium (ISGC)","Johnson JA","Meisinger C","Shuldiner AR","Dichgans M","Algra A","Duggan DJ","Bramon E","Leys D","Vicente AM","Traylor M","Lemmens R","Tajuddin SM","Muller-Nurasyid M","Fornage M","Hochberg MC","Liu J","Rothwell PM","Kissela BM","Holliday E","Scott R","Dave T","Montaner J","Arnett DK","Woodfield R","Malik R","Pedersen A","Chapman Smith SN","Giralt-Steinhauer E","Abrantes P","Carrera C","Launer LJ","O'Donnell M","Saleheen D","Gonzalez HM","Trompet S","Lindgren A","Duncanson A","Melander O","Walters M","Attia JR","Sawcer SJ","Plomin R","Papanicolaou GJ","Chasman DI","Ois A","Williams SR","McClure LA","Peddareddygari LR","Ikram MA","Ferro JM","Engstrom G","O'Connell JR","Doheny KF","Pare G","Delavaran H","Corvin A","Slowik A","Cruchaga C","Roquer J","Jern C","Jood K","Chen WM","Pulit SL","Furie K","Chong M","Frossard PM","Nalls MA","Worrall BB","Irvin MR","Salomaa V","Valant V","Gamble DM","Sanchez-Mora C","Tatlisumak T","Deloukas P","Dell CA","Smith JA","Falcone GJ","Kaplan R","Benavente OR","Reiner AP","McArdle PF","Silver B","Achterberg S","Ilinca A","Oliveira SA","Han B","Raffeld MR","Keene KL","Cole JW","Wu O","McDonough CW","Stanne T","Stefansson K","Higgins P","Clarke R","Goris A","Amouyel P","Chauhan G","Schmidt H","Wang L","Jimenez-Conde J","Robberecht W","Zonderman AB","Rautanen A","Kittner SJ","Schmidt R","Soderholm M","Gustafsson S","Hopewell JC","Radmanesh F","Barroso I","Mola-Caminal M","Markus HS","Casas JP","Debette S","Kahn MS","Evans MK","Sale MM","Battey TW","Manichaikul A","Attia J","Brown RD","Cloonan LK","Heitsch L","Millar H","Ingelsson E","Koblar S","Biffi A","Grewal RP","Segal HC","Jankowski J","Ryan KA","Sudlow CLM","Thijs V","Talbert RL","Seshadri S","Longstreth WT","Rosand J","Lichtner P"],"additional_accession":[]},"is_claimable":false,"name":"<i>COL4A2</i> is associated with lacunar ischemic stroke and deep ICH: Meta-analyses among 21,500 cases and 40,600 controls.","description":"<h4>Objective</h4>To determine whether common variants in familial cerebral small vessel disease (SVD) genes confer risk of sporadic cerebral SVD.<h4>Methods</h4>We meta-analyzed genotype data from individuals of European ancestry to determine associations of common single nucleotide polymorphisms (SNPs) in 6 familial cerebral SVD genes (<i>COL4A1</i>, <i>COL4A2</i>, <i>NOTCH3</i>, <i>HTRA1</i>, <i>TREX1</i>, and <i>CECR1</i>) with intracerebral hemorrhage (ICH) (deep, lobar, all; 1,878 cases, 2,830 controls) and ischemic stroke (IS) (lacunar, cardioembolic, large vessel disease, all; 19,569 cases, 37,853 controls). We applied data quality filters and set statistical significance thresholds accounting for linkage disequilibrium and multiple testing.<h4>Results</h4>A locus in <i>COL4A2</i> ","dates":{"release":"2017-01-01T00:00:00Z","publication":"2017 Oct","modification":"2026-04-29T09:03:41.108Z","creation":"2019-03-27T00:03:40Z"},"accession":"S-EPMC5664302","cross_references":{"pubmed":["28954878"],"doi":["10.1212/WNL.0000000000004560","10.1212/wnl.0000000000004560"]}}