Genetic dissection of intracranial aneurysm

Brain and Nerve

Volumn 60, Issue 11, 2008, Pages 1245-1260

  Onda, Hideaki ^a   Yoneyama, Taku ^b   Akagawa, Hiroyuki ^b   Kasuya, Hidetoshi ^c  

^a Kofu Neurosurgical Hospital   (Japan)

^b TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^c TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

Author keywords

Association study; Genetics; Intracranial aneurysm; Linkage analysis; Subarachnoid hemorrhage

Indexed keywords

ANEURYSM RUPTURE; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC MARKER; GENETIC SUSCEPTIBILITY; HEREDITY; HUMAN; INTRACRANIAL ANEURYSM; LINKAGE ANALYSIS; PATHOGENESIS; REVIEW; SUBARACHNOID HEMORRHAGE;

ANEURYSM, RUPTURED; CASE-CONTROL STUDIES; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN; GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; HUMANS; INTRACRANIAL ANEURYSM; SUBARACHNOID HEMORRHAGE;

EID: 57349179226     PISSN: 18816096     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (109)

1. Feigin VL, Rinkel GJ, Lawes CM, Algra A, Bennett DA, et al: Risk factors for subarachnoid hemorrhage: an updated systematic review of epidemiological studies. Stroke 36: 2773-2780, 2005
2. Bromberg JE, Rinkel GJ, Algra A, Greebe P, van Duyn CM, et al: Subarachnoid haemorrhage in first and second degree relatives of patients with subarachnoid haemorrhage. BMJ 311: 288-289, 1995
3. Ronkainen A, Hernesniemi J, Ryynänen M: Familial subarachnoid hemorrhage in east Finland, 1977-1990. Neurosurgery 33: 787-796, 1993
4. Kojima M, Nagasawa S, Lee YE, Takeichi Y, Tsuda E, et al: Asymptomatic familial cerebral aneurysms. Neurosurgery 43: 776-781, 1998
5. Bromberg JE, Rinkel GJ, Algra A, van Duyn CM, Greebe P, et al: Familial subarachnoid hemorrhage: distinctive features and patterns of inheritance. Ann Neurol 38: 929-934, 1995
6. Kasuya H, Onda H, Takeshita M, Hori T, Takakura K: Clinical features of intracranial aneurysms in siblings. Neurosurgery 46: 1301-1305, 2000
7. Ruigrok YM, Rinkel GJ, Algra A, Raaymakers TW, Van Gijn J: Characteristics of intracranial aneurysms in patients with familial subarachnoid hemorrhage. Neurology 62: 891-894, 2004
8. Ronkainen A, Hernesniemi J, Puranen M, Niemitukia L, Vanninen R, et al: Familial intracranial aneurysms. Lancet 349: 380-384, 1997
9. Schievink WI, Schaid DJ, Michels VV, Piepgras DG: Familial aneurysmal subarachnoid hemorrhage: a community-based study. J Neurosurg 83: 426-429, 1995
10. Wills S, Ronkainen A, van der Voet M, Kuivaniemi H, Helin K, et al: Familial intracranial aneurysms: an analysis of 346 multiplex Finnish families. Stroke 34: 1370-1374, 2003
11. Schievink WI, Schaid DJ, Rogers HM, Piepgras DG, Michels VV: On the inheritance of intracranial aneurysms. Stroke 25: 2028-2037, 1994
12. Schievink WI: Genetics of intracranial aneurysms. Neurosurgery 40: 651-662, 1997
13. Hughes J, Ward CJ, Peral B, Aspinwall R, Clark K, et al: The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nat Genet 10: 151-160, 1995
14. Mochizuki T, Wu G, Hayashi T, Xenophontos SL, Veldhuisen B, et al: PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science 272: 1339-1342, 1996
15. Arnaout MA: The vasculopathy of autosomal dominant polycystic kidney disease: insights from animal models. Kidney Int 58: 2599-2610, 2000
16. Gieteling EW, Rinkel GJ: Characteristics of intracranial aneurysms and subarachnoid haemorrhage in patients with polycystic kidney disease. J Neurol 250: 418-423, 2003
17. Onda H, Kasuya H, Yoneyama T, Takakura K, Hori T, et al: Genomewide-linkage and haplotype-association studies map intracranial aneurysm to chromosome 7q11. Am J Hum Genet 69: 804-819, 2001
18. Olson JM, Vongpunsawad S, Kuivaniemi H, Ronkainen A, Hernesniemi J, et al: Search for intracranial aneurysm susceptibility gene(s) using Finnish families. BMC Med Genet 3: 7, 2002
19. van der Voet M, Olson JM, Kuivaniemi H, Dudek DM, Skunca M, et al: Intracranial aneurysms in Finnish families: confirmation of linkage and refinement of the interval to chromosome 19q13.3. Am J Hum Genet 74: 564-571, 2004
20. Yamada S, Utsunomiya M, Inoue K, Nozaki K, Inoue S, et al: Genome-wide scan for Japanese familial intracranial aneurysms: linkage to several chromosomal regions. Circulation 110: 3727-3733, 2004
21. Mineharu Y, Inoue K, Inoue S, Yamada S, Nozaki K, et al: Model-based linkage analyses confirm chromosome 19q13.3 as a susceptibility locus for intracranial aneurysm. Stroke 38: 1174-1178, 2007
22. Roos YB, Pals G, Struycken PM, Rinkel GJ, Limburg M, et al: Genome-wide linkage in a large Dutch consanguineous family maps a locus for intracranial aneurysms to chromosome 2p13. Stroke 35: 2276-2281, 2004
23. Ruigrok YM, Wijmenga C, Rinkel GJ, van't Slot R, Baas F, et al: Genomewide linkage in a large Dutch family with intracranial aneurysms: replication of 2 loci for intracranial aneurysms to chromosome 1p36. 11 p36.13 and Xp22.2-p22.32. Stroke 39: 1096-1102, 2008
24. Nahed BV, Seker A, Guclu B, Ozturk AK, Finberg K, et al: Mapping a Mendelian form of intracranial aneurysm to 1p34.3p36.13. Am J Hum Genet 76: 172-179, 2005
25. Ozturk AK, Nahed BV, Bydon M, Bilguvar K, Goksu E, et al: Molecular genetic analysis of two large kindreds with intracranial aneurysms demonstrates linkage to 11q24-25 and 14q23-31. Stroke 37: 1021-1027, 2006
26. Verlaan DJ, Dube MP, St-Onge J, Noreau A, Roussel J, et al: A new locus for autosomal dominant intracranial aneurysm, ANIB4, maps to chromosome 5p15.2-14.3. J Med Genet 43: e31, 2006
27. Foroud T, Sauerbeck L, Brown R, Anderson C, Woo D, et al: Genome screen to detect linkage to intracranial aneurysm susceptibility genes: the Familial Intracranial Aneurysm (FIA) study. Stroke 39: 1434-1440, 2008
28. Yamada S, Utsunomiya M, Inoue K, Nozaki K, Miyamoto S, et al: Absence of linkage of familial intracranial aneurysms to 7q11 in highly aggregated Japanese families. Stroke 34: 892-900, 2003
29. Farnham JM, Camp NJ, Neuhausen SL, Tsuruda J, Parker D, et al: Confirmation of chromosome 7q11 locus for predisposition to intracranial aneurysm. Hum Genet 114: 250-255, 2004
30. Krischek B, Narita A, Akagawa H, Kasuya H, Tajima A, et al: Is there any evidence for linkage on chromosome 17cen in affected Japanese sib-pairs with an intracranial aneurysm? J Hum Genet 51: 491-494, 2006
31. Ruigrok YM, Rinkel GJ, van't Slot R, Wolfs M, Tang S, et al: Evidence in favor of the contribution of genes involved in the maintenance of the extracellular matrix of the arterial wall to the development of intracranial aneurysms. Hum Mol Genet 15: 3361-3368, 2006
32. Slowik A, Borratynska A, Turaj W, Pera J, Dziedzic T, et al: Interleukin 1β-511 C/T polymorphism and risk of aneurysmal subarachnoid haemorrhage. J Neurol Neurosurg Psychiatry 77: 279-280, 2006
33. Moriwaki T, Takagi Y, Sadamasa N, Aoki T, Nozaki K, et al: Impaired progression of cerebral aneurysms in interleukin-1β-deficient mice. Stroke 37: 900-905, 2006
34. Ostergaard JR, Oxlund H: Collagen type III deficiency in patients with rupture of intracranial saccular aneurysms. J Neurosurg 67: 690-696, 1987
35. Brega KE, Seltzer WK, Munro LG, Breeze RE: Genotypic variations of type III collagen in patients with cerebral aneurysms. Surg Neurol 46: 253-256, 1996
36. van den Berg JS, Pals G, Arwert F, Hennekam RC, Albrecht KW, et al: Type III collagen deficiency in saccular intracranial aneurysms. Defect in gene regulation? Stroke 30: 1628-1631, 1999
37. Ruigrok YM, Rinkel GJ, Wijmenga C: The versican gene and the risk of intracranial aneurysms. Stroke 37: 2372-2374, 2006
38. Yoneyama T, Kasuya H, Onda H, Akagawa H, Jinnai N, et al: Association of positional and functional candidate genes FGF1, FBN2, and LOX on 5q31 with intracranial aneurysm. J Hum Genet 48: 309-314, 2003
39. Hofer A, Ozkan S, Hermans M, Kubassek N, Sitzer M, et al: Mutations in the lysyl oxidase gene not associated with intracranial aneurysm in central European families. Cerebrovasc Dis 18: 189-193, 2004
40. Jayaraman T, Berenstein V, Li X, Mayer J, Silane M, et al: Tumor necrosis factor alpha is a key modulator of inflammation in cerebral aneurysms. Neurosurgery 57: 558-564, 2005
41. Fontanella M, Rainero I, Gallone S, Rubino E, FenogHo P, et al: Tumor necrosis factor-alpha gene and cerebral aneurysms. Neurosurgery 60: 668-672, 2007
42. Roberts GA, Corcoran BT, Pfouts LL, Phillips JP, Farrell MA, et al: Genetic evaluation of lipoprotein (a) in intracranial aneurysm disease. Neurosurgery 49: 133-140, 2001
43. Ferrari SL, Ahn-Luong L, Garnero P, Humphries SE, Greenspan SL: Two promoter polymorphisms regulating interleukin-6 gene expression are associated with circulating levels of C-reactive protein and markers of bone resorption in postmenopausal women. J Clin Endocrinol Metab 88: 255-259, 2003
44. Morgan L, Cooper J, Montgomery II, Kitchen N, Humphries SE: The interleukin-6 gene -174G>C and -572G>C promoter polymorphisms are related to cerebral aneurysms. J Neurol Neurosurg Psychiatry 77: 915-917, 2006
45. Fontanella M, Rainero I, Gallone S, Rubino E, Fenoglio P, et al: Interleukin 6 gene polymorphisms are not associated with aneurysmal subarachnoid haemorrhage in an Italian population. J Neurol Neurosurg Psychiatry 79: 471-473, 2008
46. Anidjar S, Salzmann JL, Gentric D, Lagneau P, Camilleri JP, et al: Elastase-induced experimental aneurysms in rats. Circulation 82: 973-981, 1990
47. Miskolczi L, Guterman LR, Flaherty JD, Hopkins LN: Saccular aneurysm induction by elastase digestion of the arterial wall: a new animal model. Neurosurgery 43: 595-600, 1998
48. Hashimoto N, Handa H, Hazama F: Experimentally induced cerebral aneurysms in rats. Surg Neurol 10: 3-8, 1978
49. Akagawa H, Tajima A, Sakamoto Y, Krischek B, Yonetama T, et al: A haplotype spanning two genes, ELN and LIMK1, decreases their transcripts and confers susceptibility to intracranial aneurysms. Hum Mol Genet 15: 1722 1734, 2006
50. Hofer A, Hermans M, Kubassek N, Sitzer M, Funke H, et al: Elastin polymorphism haplotype and intracranial aneurysms are not associated in Central Europe. Stroke 34: 1207-1211, 2003
51. Krex D, Konig IR, Ziegler A, Schackert HK, Schackert G: Extended single nucleotide polymorphism and haplotype analysis of the elastin gene in Caucasians with intracranial aneurysms provides evidence for racially/ethnically based differences. Cerebrovasc Dis 18: 104-110, 2004
52. Ruigrok YM, Seitz U, Wolterink S, Rinkel GJ, Wijmenga C, et al: Association of polymorphisms and haplotypes in the elastin gene in Dutch patients with sporadic aneurysmal subarachnoid hemorrhage. Stroke 35: 2064-2068, 2004
53. Berthelemy-Okazaki N, Zhao Y, Yang Z, Camp NJ, Farnham J, et al: Examination of ELN as a candidate gene in the Utah intracranial aneurysm pedigrees. Stroke 36: 1283-1284, 2005
54. Mineharu Y, Inoue K, Inoue S, Yamada S, Nozaki K, et al: Association analysis of common variants of ELN, NOS2A, APOE and ACE2 to intracranial aneurysm. Stroke 37: 1189-1194, 2006
55. Kaushal R, Woo D, Pal P, Haverbusch M, Xi H, et al: Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes. BMC Med Genet 8: 49, 2007
56. Rossaak JI, Van Rij AM, Jones GT, Harris EL: Association of the 4G/5G polymorphism in the promoter region of plasminogen activator inhibitor-1 with abdominal aortic aneurysms. J Vasc Surg 31: 1026-1032, 2000
57. Yoon S, Tromp G, Vongpunsawad S, Ronkainen A, Juvonen T, et al: Genetic analysis of MMP3, MMP9, and PAI-1 in Finnish patients with abdominal aortic or intracranial aneurysms. Biochem Biophys Res Commun 265: 563-568, 1999
58. Yoneyama T, Kasuya H, Onda H, Akagawa H, Hashiguchi K, et al: Collagen type I alpha2 (COL1A2) is the susceptible gene for intracranial aneurysms. Stroke 35: 443-448, 2004
59. Khurana VG, Sohni YR, Mangrum WI, McClelland RL, O'Kane DJ, et al: Endothelial nitric oxide synthase gene polymorphisms predict susceptibility to aneurysmal subarachnoid hemorrhage and cerebral vasospasm. J Cereb Blood Flow Metab 24: 291-297, 2004
60. Khurana VG, Sohni YR, Mangrum WI, McClelland RL, O'Kane DJ, et al: Endothelial nitric oxide synthase T 786C single nucleotide polymorphism: a putative genetic marker differentiating small versus large ruptured intracranial aneurysms. Stroke 34: 2555-2559, 2003
61. Akagawa H, Kasuya H, Onda H, Yoneyama T, Sasahara A, et al: Influence of endothelial nitric oxide synthase T-786C single nucleotide polymorphism on aneurysm size. J Neurosurg 102: 68-71, 2005
62. Khurana VG, Meissner I, Sohni YR, Bamlet WR, McClelland RL, et al: The presence of tandem endothelial nitric oxide synthase gene polymorphisms identifying brain aneurysms more prone to rupture. J Neurosurg 102: 526-531, 2005
63. Krischek B, Kasuya H, Akagawa H, Tajima A, Narita A, et al: Using endothelial nitric oxide synthase gene polymorphisms to identify intracranial aneurysms more prone to rupture in Japanese patients. J Neurosurg 105: 717-722, 2006
64. Akagawa H, Narita A, Yamada H, Tajima A, Krischek B, et al: Systematic screening of lysyl oxidase-like (LOXL) family genes demonstrates that LOXL2 is a susceptibility gene to intracranial aneurysms. Hum Genet 121: 377-387, 2007
65. Takenaka K, Sakai H, Yamakawa H, Yoshimura S, Kumagai M, et al: Polymorphism of the endoglin gene in patients with intracranial saccular aneurysms. J Neurosurg 90: 935-938, 1999
66. Krex D, Ziegler A, Schackert HK, Schackert G: Lack of association between endoglin intron 7 insertion polymorphism and intracranial aneurysms in a white population: evidence of racial/ethnic differences. Stroke 32: 2689-2694, 2001
67. Peters DG, Kassam AB, Chang YF: A DNA sequence polymorphism in the endoglin gene is not associated with intracranial aneurysm or aneurysmal subarachnoid hemorrhage. Cerebrovasc Dis 20: 96-100, 2005
68. Pera J, Slowik A, Dziedzic T, Borratynska A, Rog TM, et al: Endoglin gene insertion polymorphism not associated with aneurysmal subarachnoid hemorrhage. J Neurosurg 102: 879-881, 2005
69. Onda H, Kasuya H, Yoneyama T, Hori T, Nakajima T, et al: Endoglin is not a major susceptibility gene for intracranial aneurysm among Japanese. Stroke 34: 1640-1644, 2003
70. Gaetani P, Tartara F, Grazioli V, Tancioni F, Infuso L, et al: Collagen cross-linkage, elastolytic and collagenolytic activities in cerebral aneurysms: a preliminary investigation. Life Sci 63: 285-292, 1998
71. Sakai N, Nakayama K, Tanabe Y, Izumiya Y, Nishizawa S, et al: Absence of plasma protease-antiprotease imbalance in the formation of saccular cerebral aneurysms. Neurosurgery 45: 34-38, 1999
72. Bruno G, Todor R, Lewis I, Chyatte D: Vascular extracellular matrix remodeling in cerebral aneurysms. J Neurosurg 89: 431-440, 1998
73. Peters DG, Kassam A, St Jean PL, Yonas H, Ferrell RE: Functional polymorphism in the matrix metalloproteinase-9 promoter as a potential risk factor for intracranial aneurysm. Stroke 30: 2612-2616, 1999
74. Zhang B, Dhillon S, Geary I, Howell WM, Iannotti F, et al: Polymorphisms in matrix metalloproteinase-1, -3, -9, and -12 genes in relation to subarachnoid hemorrhage. Stroke 32: 2198-2202, 2001
75. Krex D, Kotteck K, Konig IR, Ziegler A, Schackert HK, et al: Matrix metalloproteinase-9 coding sequence single-nucleotide polymorphisms in Caucasians with intracranial aneurysms. Neurosurgery 55: 207-212, 2004
76. Pannu H, Kim DH, Guo D, King TM, Van Ginhoven G, et al: The role of MMP-2 and MMP-9 polymorphisms in sporadic intracranial aneurysms. J Neurosurg 105: 418-423, 2006
77. Namciu SJ, Friedman RD, Marsden MD, Sarausad LM, Jasoni CL, et al: Sequence organization and matrix attachment regions of the human serine protease inhibitor gene cluster at 14q32.1. Mamm Genome 15: 162-78, 2004
78. St Jean P, Hart B, Webster M, Steed D, Adamson J, et al: Alpha-1-antitrypsin deficiency in aneurysmal disease. Hum Hered 46: 92-97, 1996
79. Schievink WI, Katzmann JA, Piepgras DG, Schaid DJ: Alpha-1-antitrypsin phenotypes among patients with intracranial aneurysms. J Neurosurg 84: 781-784, 1996
80. Yoneyama T, Kasuya H, Akagawa H, Onda H, Nakajima T, et al: Absence of alpha-1 antitrypsin deficiency alleles (S and Z) in Japanese and Korean patients with aneurysmal subarachnoid hemorrhage. Stroke 35: e376-378, 2004
81. Slowik A, Borratynska A, Turaj W, Pera J, Dziedzic T, et al: Alphal-antichymotrypsin gene (SERPINA3) A/T polymorphism as a risk factor for aneurysmal subarachnoid hemorrhage. Stroke 36: 737-740, 2005
82. Krischek B, Akagawa H, Tajima A, Narita A, Kasuya H, et al: The alanine/threonine polymorphism of the alpha-1-antichymotrypsin (SERPINA3) gene and ruptured intracranial aneurysms in the Japanese population. Cerebrovasc Dis 23: 46-49, 2007
83. Guzik TJ, West NE, Black E, McDonald D, Ratnatunga C, et al: Functional effect of the C242T polymorphism in the NAD(P)H oxidase p22phox gene on vascular superoxide production in atherosclerosis. Circulation 102: 1744-1747, 2000
84. Krex D, Ziegler A, Konig IR, Schackert HK, Schackert G: Polymorphisms of the NADPH oxidase p22phox gene in a Caucasian population with intracranial aneurysms. Cerebrovasc Dis 16: 363-368, 2003
85. Inoue K, Mineharu Y, Inoue S, Yamada S, Matsuda F, et al: Search on chromosome 17 centromere reveals TNFRSF13B as a susceptibility gene for intracranial aneurysm: a preliminary study. Circulation 113: 2002-2010, 2006
86. Fukuda S, Hashimoto N, Naritomi H, Nagata I, Nozaki K, et al: Prevention of rat cerebral aneurysm formation by inhibition of nitric oxide synthase. Circulation 101: 2532-2538, 2000
87. Sadamasa N, Nozaki K, Hashimoto N: Disruption of gene for inducible nitric oxide synthase reduces progression of cerebral aneurysms. Stroke 34: 2980-2984, 2003
88. Takenaka K, Yamakawa H, Sakai H, Yoshimura S, Murase S, et al: Angiotensin I-converting enzyme gene polymorphism in intracranial saccular aneurysm individuals. Neurol Res 20: 607-611, 1998
89. Keramatipour M, McConnell RS, Kirkpatrick P, Tebbs S, Furlong RA, et al: The ACE I allele is associated with increased risk for ruptured intracranial aneurysms. J Med Genet 37: 498-500, 2000
90. Slowik A, Borratynska A, Pera J, Betlej M, Dziedzic T, et al: II genotype of the angiotensin-converting enzyme gene increases the risk for subarachnoid hemorrhage from ruptured aneurysm. Stroke 35: 1594-1597, 2004
91. Pannu H, Kim DH, Seaman CR, Van Ginhoven G, Shete S, et al: Lack of an association between the angiotensin-converting enzyme insertion/deletion polymorphism and intracranial aneurysms in a Caucasian population in the United States. J Neurosurg 103: 92-96, 2005
92. Krex D, Rohl H, Konig IR, Ziegler A, Schackert HK, et al: Tissue inhibitor of metalloproteinases-1, -2, and -3 polymorphisms in a white population with intracranial aneurysms. Stroke 34: 2817-2821, 2003
93. Shibamura H, Olson JM, van Vlijmen-Van Keulen C, Buxbaum SG, Dudek DM, et al: Genome scan for familial abdominal aortic aneurysm using sex and family history as covariates suggests genetic heterogeneity and identifies linkage to chromosome 19q13. Circulation 109: e9039-9040, 2004
94. Van Vlijmen-Van Keulen CJ, Rauwerda JA, Pals G: Genome-wide linkage in three Dutch families maps a locus for abdominal aortic aneurysms to chromosome 19q13.3. Eur J Vasc Endovasc Surg 30: 29-35, 2005
95. Akhurst RJ: A sweet link between TGFβ and vascular disease? Nat Genet 38: 400-401, 2006
96. Ruigrok YM, Tan S, Medic J, Rinkel GJ, Wijmenga C: Genes involved in the transforming growth factor beta signalling pathway and the risk of intracranial aneurysms. J Neurol Neurosurg Psychiatry 79: 722-724, 2008
97. Kokubo Y, Chowdhury AH, Date C, Yokoyama T, Sobue H, et al: Age-dependent association of apolipoprotein E genotypes with stroke subtypes in a Japanese rural population. Stroke 31: 1299-1306, 2000
98. Weinsheimer S, Goddard KA, Parrado AR, Lu Q, Sinha M, et al: Association of kallikrein gene polymorphisms with intracranial aneurysms. Stroke 38: 2670-2676, 2007
99. Schillinger M, Exner M, Mlekusch W, Domanovits H, Huber K, et al: Heme oxygenase-1 gene promoter polymorphism is associated with abdominal aortic aneurysm. Thromb Res 106: 131-136, 2002
100. Morgan L, H awe E, Palmen J, Montgomery H, Humphries SE, et al: Polymorphism of the heme oxygenase-1 gene and cerebral aneurysms. Br J Neurosurg 19: 317-321, 2005
101. Saxena R, Voight BF, Lyssenko V, Burtt NP, de Bakker PI, et al: Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science 316: 1331-1336, 2007
102. Zeggini E, Weedon MN, Lindgren CM, Frayling TM, Elliott KS, et al: Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science 316: 1336-1341, 2007
103. Scott LJ, Mohlke KL, Bonnycastle LL, Willer CJ, Li Y, et al: A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science 316: 1341-1345, 2007
104. McPherson R, Pertsemlidis A, Kavaslar N, Stewart A, Roberts R, et al: A common allele on chromosome 9 associated with coronary heart disease. Science 316: 1488-1491, 2007
105. Helgadottir A, Thorleifsson G, Manolescu A, Gretarsdottir S, Blondal T, et al: A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science 316: 1491-1493, 2007
106. 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
107. Samani NJ, Erdmann J, Hall AS, Hengstenberg C, Mangino M, et al: Genomewide association analysis of coronary artery disease. N Engl J Med 357: 443-453, 2007
108. Helgadottir A, Thorleifsson G, Magnusson KP, Grétarsdottir S, Steinthorsdottir V, et al: The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm. Nat Genet 40: 217-224, 2008
109. Mineharu Y, Inoue K, Inoue S, Kikuchi K, Ohishi H, et al: Association analyses confirming a susceptibility locus for intracranial aneurysm at chromosome 14q23. J Hum Genet 53: 325-332, 2008