Genome-wide association study of intracranial aneurysm identifies three new risk loci

Nature Genetics

Volumn 42, Issue 5, 2010, Pages 420-425

  Yasuno, Katsuhito ^a   Bilguvar, Kaya ^a   Bijlenga, Philippe ^b   Low, Siew Kee ^c   Krischek, Boris ^d   Auburger, Georg ^e   Simon, Matthias ^f   Krex, Dietmar ^g   Arlier, Zulfikar ^a   Nayak, Nikhil ^a   Ruigrok, Ynte M ^h   Niemelä, Mika ⁱ   Tajima, Atsushi ^j   Von Und Zu Fraunberg, Mikael ^k   Dóczi, Tamás ^l   Wirjatijasa, Florentina ^e   Hata, Akira ^m   Blasco, Jordi ⁿ   Oszvald, Agi ^e   Kasuya, Hidetoshi ^o   Zilani, Gulam ^p   Schoch, Beate ^q   Singh, Pankaj ^r,s   Stüer, Carsten ^t   Risselada, Roelof ^u   Beck, Jürgen ^e   Sola, Teresa ^v   Ricciardi, Filomena ^e   Aromaa, Arpo ^w   Illig, Thomas ^x   Schreiber, Stefan ^y   Van Duijn, Cornelia M ^u,z   Van Den Berg, Leonard H ^h   Perret, Claire ^aa   Proust, Carole ^aa   Roder, Constantin ^d   Ozturk, Ali K ^a   Gaál, Emília ^a,i   Berg, Daniela ^d   Geisen, Christof ^ab   Friedrich, Christoph M ^ac   Summers, Paul ^p   Frangi, Alejandro F ^ad,ae,af   State, Matthew W ^a,ag   Wichmann, H Erich ^x   Breteler, Monique M B ^u,z   Wijmenga, Cisca ^ah   Mane, Shrikant ^ai   Peltonen, Leena ^aj,ak   Elio, Vivas ^v   Sturkenboom, Miriam C J M ^u   Lawford, Patricia ^r   Byrne, James ^p   MacHo, Juan ⁿ   Sandalcioglu, Erol I ^q   Meyer, Bernhard ^t   Raabe, Andreas ^e   Steinmetz, Helmuth ^e   Rüfenacht, Daniel ^b,al   Jääskeläinen, Juha E ^k   Hernesniemi, Juha ⁱ   Rinkel, Gabriel J E ^h   Zembutsu, Hitoshi ^c   Inoue, Ituro ^j   Palotie, Aarno ^aj,ak   Cambien, François ^aa   Nakamura, Yusuke ^c   Lifton, Richard P ^a   Günel, Murat ^a   more..

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^c UNIVERSITY OF TOKYO   (Japan)

^d UNIVERSITY OF TÜBINGEN   (Germany)

^e GOETHE UNIVERSITY   (Germany)

^f UNIVERSITY OF BONN   (Germany)

^g UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

^h UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

ⁱ HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^j TOKAI UNIVERSITY   (Japan)

^k KUOPIO UNIVERSITY HOSPITAL   (Finland)

^l UNIVERSITY OF PÉCS   (Hungary)

^m CHIBA UNIVERSITY   (Japan)

ⁿ HOSPITAL CLÍNIC   (Spain)

^o TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^p UNIVERSITY OF OXFORD   (United Kingdom)

^q UNIVERSITY HOSPITAL ESSEN   (Germany)

^r UNIVERSITY OF SHEFFIELD   (United Kingdom)

^s ROYAL HALLAMSHIRE HOSPITAL   (United Kingdom)

^t TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^u ERASMUS MEDICAL CENTER   (Netherlands)

^v HOSPITAL GENERAL DE CATALUNYA   (Spain)

^w NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^x INSTITUTE OF EPIDEMIOLOGY   (Germany)

^y UNIVERSITY OF KIEL   (Germany)

^z Netherlands Consortium on Healthy Aging   (Netherlands)

^aa PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^ab Institute Springe   (Germany)

^ac FRAUNHOFER INSTITUTE FOR ALGORITHMS AND SCIENTIFIC COMPUTING SCAI   (Germany)

^ad UNIVERSITAT POMPEU FABRA   (Spain)

^ae BIOMATERIALES Y NANOMEDICINA CIBER BBN   (Spain)

^af INSTITUCIÓ CATALANA DE RECERCA I ESTUDIS AVANÇATS ICREA   (Spain)

^ag YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^ah UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^ai YALE UNIVERSITY   (United States)

^aj WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^ak UNIVERSITY OF HELSINKI   (Finland)

^al KLINIK HIRSLANDEN   (Switzerland)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 2A; CYCLIN DEPENDENT KINASE INHIBITOR 2B; TRANSCRIPTION FACTOR SOX17;

ANGIOGENESIS; ARTICLE; BRAIN HEMORRHAGE; CELL CYCLE PROGRESSION; CELL PROLIFERATION; CHROMOSOME 10Q; CHROMOSOME 13Q; CHROMOSOME 18Q; EUROPE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC RISK; GENOTYPE; HUMAN; INTRACRANIAL ANEURYSM; JAPAN; MAJOR CLINICAL STUDY; NEUROLOGIC DISEASE; PRIORITY JOURNAL; SENESCENCE; SINGLE NUCLEOTIDE POLYMORPHISM; STEM CELL;

CELL CYCLE; CELL PROLIFERATION; COHORT STUDIES; EUROPE; FEMALE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HEMORRHAGE; HUMANS; INTRACRANIAL ANEURYSM; JAPAN; MALE; MODELS, GENETIC; ODDS RATIO; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 77951768060     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.563     Document Type: Article

References (39)

1. Rinkel, G.J., Djibuti, M., Algra, A. & van Gijn, J. Prevalence and risk of rupture of intracranial aneurysms: a systematic review. Stroke 29, 251-256 (1998). (Pubitemid 28046972)
2. Bilguvar, K. et al. Susceptibility loci for intracranial aneurysm in European and Japanese populations. Nat. Genet. 40, 1472-1477 (2008).
3. Iwamoto, H. et al. Prevalence of intracranial saccular aneurysms in a Japanese community based on a consecutive autopsy series during a 30-year observation period. The Hisayama study. Stroke 30, 1390-1395 (1999). (Pubitemid 29296066)
4. Salmela, E. et al. Genome-wide analysis of single nucleotide polymorphisms uncovers population structure in Northern Europe. PLoS One 3, e3519 (2008).
5. Jakkula, E. et al. The genome-wide patterns of variation expose signifcant substructure in a founder population. Am. J. Hum. Genet. 83, 787-794 (2008).
6. Marchini, J., Howie, B., Myers, S., McVean, G. & Donnelly, P. A new multipoint method for genome-wide association studies by imputation of genotypes. Nat. Genet. 39, 906-913 (2007). (Pubitemid 47014502)
7. Devlin, B. & Roeder, K. Genomic control for association studies. Biometrics 55, 997-1004 (1999).
8. Wakefeld, J. A Bayesian measure of the probability of false discovery in genetic epidemiology studies. Am. J. Hum. Genet. 81, 208-227 (2007).
9. Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447, 661-678 (2007).
10. Stephens, M. & Balding, D.J. Bayesian statistical methods for genetic association studies. Nat. Rev. Genet. 10, 681-690 (2009).
11. Wacholder, S., Chanock, S., Garcia-Closas, M., El Ghormli, L. & Rothman, N. Assessing the probability that a positive report is false: an approach for molecular epidemiology studies. J. Natl. Cancer Inst. 96, 434-442 (2004). (Pubitemid 38443646)
12. Helgadottir, A. et al. The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm. Nat. Genet. 40, 217-224 (2008). (Pubitemid 351171400)
13. Kuro-o, M. et al. Mutation of the mouse klotho gene leads to a syndrome resembling ageing. Nature 390, 45-51 (1997).
14. Visel, A. et al. Targeted deletion of the 9p21 non-coding coronary artery disease risk interval in mice. Nature 464, 409-412 (2010).
15. Yun, M.H. & Hiom, K. CtIP-BRCA1 modulates the choice of DNA double-strand-break repair pathway throughout the cell cycle. Nature 459, 460-463 (2009).
16. Leung, T.H. et al. Deleted in liver cancer 2 (DLC2) suppresses cell transformation by means of inhibition of RhoA activity. Proc. Natl. Acad. Sci. USA 102, 15207-15212 (2005).
17. Urakawa, I. et al. Klotho converts canonical FGF receptor into a specifc receptor for FGF23. Nature 444, 770-774 (2006). (Pubitemid 44949607)
18. Schievink, W.I. Genetics of intracranial aneurysms. Neurosurgery 40, 651-662 discussion 662-663 (1997).
19. Cannon Albright, L.A. et al. A genealogical assessment of heritable predisposition to aneurysms. J. Neurosurg. 99, 637-643 (2003).
20. Kamatani, Y. et al. A genome-wide association study identifes variants in the HLA-DP locus associated with chronic hepatitis B in Asians. Nat. Genet. 41, 591-595 (2009).
21. Purcell, S. et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 81, 559-575 (2007). (Pubitemid 47330214)
22. Clayton, D. & Leung, H.T. An R package for analysis of whole-genome association studies. Hum. Hered. 64, 45-51 (2007). (Pubitemid 46684918)
23. de Bakker, P. et al. Practical aspects of imputation-driven meta-analysis of genome-wide association studies. Hum. Mol. Genet. 17, R122-R128 (2008).
24. Clayton, D.G. et al. Population structure, differential bias and genomic control in a large-scale, case-control association study. Nat. Genet. 37, 1243-1246 (2005).
25. Patterson, N., Price, A.L. & Reich, D. Population structure and eigenanalysis. PLoS Genet. 2, e190 (2006). (Pubitemid 46045188)
26. Price, A.L. et al. Principal components analysis corrects for stratifcation in genome-wide association studies. Nat. Genet. 38, 904-909 (2006). (Pubitemid 44141658)
27. Belkin, M. & Niyogi, P. Laplacian eigenmaps for dimensionality reduction and data representation. Neural Comput. 15, 1373-1396 (2003). (Pubitemid 37049796)
28. Lee, A., Luca, D., Klei, L., Devlin, B. & Roeder, K. Discovering genetic ancestry using spectral graph theory. Genet. Epidemiol. 34, 51-59 (2009).
29. von Luxburg, U. A tutorial on spectral clustering. Stat. Comput. 17, 395-416 (2007).
30. Rosenbaum, P. A characterization of optimal designs for observational studies. J.R. Statist. Soc. B 53, 597-610 (1991).
31. Hansen, B. & Klopfer, S. Optimal full matching and related designs via network fows. J. Comput. Graph. Statist. 15, 609-627 (2006). (Pubitemid 44554199)
32. Wigginton, J., Cutler, D. & Abecasis, G. A note on exact tests of Hardy-Weinberg equilibrium. Am. J. Hum. Genet. 76, 887-893 (2005). (Pubitemid 40563110)
33. Browning, B. & Browning, S. A unifed approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals. Am. J. Hum. Genet. 84, 210-223 (2009).
34. Breslow, N. & Day, N. Statistical methods in cancer research. Volume I\the analysis of case-control studies. IARC Sci. Publ. 5-338 (1980).
35. Viechtbauer, W. Bias and effciency of meta-analytic variance estimators in the random-effects model. J. Educ. Behav. Stat. 30, 261-293 (2005). (Pubitemid 41538934)
36. Higgins, J., Thompson, S., Deeks, J. & Altman, D. Measuring inconsistency in meta-analyses. Br. Med. J. 327, 557-560 (2003). (Pubitemid 37088507)
37. Goodman, S. Toward evidence-based medical statistics. 2: The Bayes factor. Ann. Intern. Med. 130, 1005-1013 (1999). (Pubitemid 29283992)
38. Wakefeld, J. Reporting and interpretation in genome-wide association studies. Int. J. Epidemiol. 37, 641-653 (2008). (Pubitemid 351804020)
39. Clayton, D. Prediction and interaction in complex disease genetics: experience in type 1 diabetes. PLoS Genet. 5, e1000540 (2009).