Low-frequency and common genetic variation in ischemic stroke

Neurology

Volumn 86, Issue 13, 2016, Pages 1217-1226

  Malik, Rainer ^a   Traylor, Matthew ^a   Pulit, Sara L ^a   Bevan, Steve ^a   Hopewell, Jemma C ^a   Holliday, Elizabeth G ^a   Zhao, Wei ^a   Abrantes, Patricia ^a   Amouyel, Philippe ^a   Attia, John R ^a   Battey, Thomas W K ^a   Berger, Klaus ^a   Boncoraglio, Giorgio B ^a   Chauhan, Ganesh ^a   Cheng, Yu Ching ^a   Chen, Wei Min ^a   Clarke, Robert ^a   Cotlarciuc, Ioana ^a   Debette, Stephanie ^a   Falcone, Guido J ^a   Ferro, Jose M ^a   Gamble, Dale M ^a   Ilinca, Andreea ^a   Kittner, Steven J ^a   Kourkoulis, Christina E ^a   Lemmens, Robin ^a   Levi, Christopher R ^a   Lichtner, Peter ^a   Lindgren, Arne ^a   Liu, Jingmin ^a   Meschia, James F ^a   Mitchell, Braxton D ^a   Oliveira, Sofia A ^a   Pera, Joana ^a   Reiner, Alex P ^a   Rothwell, Peter M ^a   Sharma, Pankaj ^a   Slowik, Agnieszka ^a   Sudlow, Cathie L M ^a   Tatlisumak, Turgut ^a   Thijs, Vincent ^a   Vicente, Astrid M ^a   Woo, Daniel ^a   Seshadri, Sudha ^a   Saleheen, Danish ^a   Rosand, Jonathan ^a   Markus, Hugh S ^a   Worrall, Bradford B ^a   Dichgans, Martin ^a   more..

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

HISTONE DEACETYLASE 9; TRANSCRIPTION FACTOR PITX2;

ARTICLE; ATRIAL FIBRILLATION; BRAIN ISCHEMIA; CARDIOEMBOLIC STROKE; CAUCASIAN; CONTROLLED STUDY; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOME; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SOUTH ASIAN; CASE CONTROL STUDY; COOPERATION; GENETIC VARIATION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; META ANALYSIS; PROCEDURES; STROKE;

BRAIN ISCHEMIA; CASE-CONTROL STUDIES; COOPERATIVE BEHAVIOR; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; STROKE;

EID: 84962786535     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000002528     Document Type: Article

References (40)

1. Bonita R. Epidemiology of stroke. Lancet 1992;339:342-344
2. Lozano R, Naghavi M, Foreman K, et al. Global and regional mortality from 235 causes of death for 20 age groups in 1990 and 2010: a systematic analysis for the Global Burden of Disease Study 20. Lancet 2012;380: 2095-2128
3. Falcone GJ, Malik R, Dichgans M, Rosand J. Current concepts and clinical applications of stroke genetics. Lancet Neurol 2014;13:405-418
4. Dichgans M. Genetics of ischaemic stroke. Lancet Neurol 2007;6:149-161
5. International Stroke Genetics Consortium, Wellcome Trust Case Control Consortium, , Bellenguez C, et al. Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke. Nat Genet 2012;44:328-333
6. Holliday EG, Maguire JM, Evans TJ, et al. Common variants at 6p21.1 are associated with large artery atherosclerotic stroke. Nat Genet 2012;44:1147-1151
7. Holliday EG, Traylor M, Malik R, et al. Genetic overlap between diagnostic subtypes of ischemic stroke. Stroke 2015;46:615-619
8. Bevan S, Traylor M, Adib-Samii P, et al. Genetic heritability of ischemic stroke and the contribution of previously reported candidate gene and genomewide associations. Stroke 2012;43:3161-3167
9. International HapMap Consortium, Frazer KA, Ballinger DG, et al. A second generation human haplotype map of over 3.1 million SNPs. Nature 2007;449:851-861
10. 1000 Genomes Project Consortium, Abecasis GR, Auton A, et al. An integrated map of genetic variation from 1,092 human genomes. Nature, 2012, 491, 56-65.
11. Debette S, Kamatani Y, Metso TM, et al. Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection. Nat Genet 2015;47:78-83
12. NINDS Stroke Genetics Network (SiGN); International Stroke Genetics Consortium (ISGC). Loci associated with ischaemic stroke and its subtypes (SiGN): a genome-wide association study. Lancet Neurol Epub 2015 Dec 8
13. Saleheen D, Bukhari S, Haider SR, et al. Association of phosphodiesterase 4D gene with ischemic stroke in a Pakistani population. Stroke 2005;36:2275-2277
14. Traylor M, Farrall M, Holliday EG, et al. Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies. Lancet Neurol 2012;11:951-962
15. Howie B, Fuchsberger C, Stephens M, Marchini J, Abecasis GR. Fast and accurate genotype imputation in genome-wide association studies through pre-phasing. Nat Genet 2012;44:955-959
16. Li Y, Willer CJ, Ding J, Scheet P, Abecasis GR.MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet Epidemiol 2010;34:816-834
17. Adams HP Jr, Bendixen BH, Kappelle LJ, et al. 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;24:35-41
18. Willer CJ, Li Y, Abecasis GR. METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics 2010;26:2190-2191
19. Han B, Eskin E. Random-effects model aimed at discovering associations in meta-analysis of genome-wide association studies. Am J Hum Genet 2011;88:586-598
20. Segre AV, Groop L, Mootha VK, et al. Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits. PLoS Genet 2010;6:e1001058
21. Kilarski LL, Achterberg S, DevanWJ, et al. Meta-analysis in more than 17,900 cases of ischemic stroke reveals a novel association at 12q24. Neurology 2014;83:678-685
22. Williams FM, Carter AM, Hysi PG, et al. Ischemic stroke is associated with the ABO locus: the EuroCLOT study. Ann Neurol 2013;73:16-31
23. Gschwendtner A, Bevan S, Cole JW, et al. Sequence variants on chromosome 9p21.3 confer risk for atherosclerotic stroke. Ann Neurol 2009;65:531-539
24. Gretarsdottir S, Thorleifsson G, Manolescu A, et al. Risk variants for atrial fibrillation on chromosome 4q25 associate with ischemic stroke. Ann Neurol 2008;64:402-409
25. Gudbjartsson DF, Holm H, Gretarsdottir S, et al. A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke. Nat Genet 2009; 41:876-878
26. Ikram MA, Seshadri S, Bis JC, et al. Genomewide association studies of stroke. N Engl J Med 2009;360:1718-1728
27. Ellinor PT, Lunetta KL, Albert CM, et al. Meta-analysis identifies six new susceptibility loci for atrial fibrillation. Nat Genet 2012;44:670-675
28. Schork AJ, Thompson WK, Pham P, et al. All SNPs are not created equal: genome-wide association studies reveal a consistent pattern of enrichment among functionally annotated SNPs. PLoS Genet 2013;9:e1003449
29. Erdmann J, Stark K, Esslinger UB, et al. Dysfunctional nitric oxide signalling increases risk of myocardial infarction. Nature 2013;504:432-436
30. Ferro D, Loffredo L, Polimeni L, et al. Soluble CD40 ligand predicts ischemic stroke and myocardial infarction in patients with nonvalvular atrial fibrillation. Arterioscler Thromb Vasc Biol 2007;27:2763-2768
31. Lip GY, Patel JV, Hughes E, Hart RG. High-sensitivity Creactive protein and soluble CD40 ligand as indices of inflammation and platelet activation in 880 patients with nonvalvular atrial fibrillation: relationship to stroke risk factors, stroke risk stratification schema, and prognosis. Stroke 2007;38:1229-1237
32. Xi L, Cao H, Chen Y. OPG/RANK/RANKL axis in atrial fibrillation. Cardiology 2013;125:174-175
33. Zhang L, Rao F, Zhang K, et al. Discovery of common human genetic variants of GTP cyclohydrolase 1 (GCH1) governing nitric oxide, autonomic activity, and cardiovascular risk. J Clin Invest 2007;117:2658-2671
34. Alp NJ, Channon KM. Regulation of endothelial nitric oxide synthase by tetrahydrobiopterin in vascular disease. Arterioscler Thromb Vasc Biol 2004;24:413-420
35. De Maria R, Campolo J, Frontali M, et al. Effects of sapropterin on endothelium-dependent vasodilation in patients with CADASIL: a randomized controlled trial. Stroke 2014;45:2959-2966
36. Gan Y, Liu Q, Wu W, et al. Ischemic neurons recruit natural killer cells that accelerate brain infarction. Proc Natl Acad Sci USA 2014;111:2704-2709
37. CARDIoGRAMplusC4D Consortium, Deloukas P, Kanoni S, et al. Large-scale association analysis identifies new risk loci for coronary artery disease. Nat Genet, 2013, 45, 25-33.
38. Ioannidis JP, Ntzani EE, Trikalinos TA, Contopoulos- Ioannidis DG. Replication validity of genetic association studies. Nat Genet 2001;29:306-309
39. Liu YJ, Papasian CJ, Liu JF, Hamilton J, Deng HW. Is replication the gold standard for validating genome-wide association findings? PLoS One 2008;3:e4037
40. Carty CL, Keene KL, Cheng YC, et al. Meta-analysis of genome-wide association studies identifies genetic risk factors for stroke in African Americans. Stroke 2015;46: 2063-2068