Genomewide-Linkage and Haplotype-Association Studies Map Intracranial Aneurysm to Chromosome 7q11

Anidjar, 1990, Elastase-induced experimental aneurysms in rats, Circulation, 82, 973, 10.1161/01.CIR.82.3.973 Calabretta, 1982, Genome instability in a region of human DNA enriched in Alu repeat sequences, Nature, 296, 219, 10.1038/296219a0 Carmichael, 1945, Gross defects in the muscular and elastic coats of the larger cerebral arteries, J Pathol Bacteriol, 57, 345, 10.1002/path.1700570308 Carmichael, 1950, The pathogenesis of non-inflammatory cerebral aneurysms, J Pathol Bacteriol, 62, 1, 10.1002/path.1700620102 Curran, 1993, The elastin gene is disrupted by a translocation associating with supravalvular aortic stenosis, Cell, 73, 159, 10.1016/0092-8674(93)90168-P Elston, 1997, Sib-pair linkage program (SIBPAL) Foster, 1993, Description of a dinucleotide repeat polymorphism in the human elastin gene and its use to confirm assignment of the gene to chromosome 7, Ann Hum Genet, 57, 87, 10.1111/j.1469-1809.1993.tb00890.x Glynn, 1940, Medial defects in the circle of Willis and their relation to aneurysm formation, J Pathol Bacteriol, 51, 213, 10.1002/path.1700510206 Hashimoto, 1978, Experimentally induced cerebral aneurysms in rats, Surg Neurol, 10, 3 Hill, 1968, Linkage disequilibrium in finite populations, Theor Appl Genet, 38, 226, 10.1007/BF01245622 Horikawa, 2000, Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus, Nat Genet, 26, 163, 10.1038/79876 Inagawa, 1988, Aneurysmal subarachnoid hemorrhage in Izumo City and Shimane Prefecture of Japan: incidence, Stroke, 19, 170, 10.1161/01.STR.19.2.170 Inagawa, 1995, Study of aneurysmal subarachnoid hemorrhage in Izumo City, Japan, Stroke, 26, 761, 10.1161/01.STR.26.5.761 Iwamoto, 1999, 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, 10.1161/01.STR.30.7.1390 Kahari, 1990, Deletion analyses of 5′-flanking region of the human elastin gene: delineation of functional promoter and regulatory cis-elements, J Biol Chem, 265, 9485, 10.1016/S0021-9258(19)38875-1 Kasuya, 2000, Clinical features of intracranial aneurysms in siblings, Neurosurgery, 46, 1301, 10.1097/00006123-200006000-00004 Kiyohara, 1989, Incidence and prognosis of subarachnoid hemorrhage in a Japanese rural community, Stroke, 20, 1150, 10.1161/01.STR.20.9.1150 Kruglyak, 1996, Parametric and nonparametric linkage analysis: a unified multipoint approach, Am J Hum Genet, 58, 1347 Lewontin, 1964, The interaction of selection and linkage. I. General considerations: heterotic models, Genetics, 49, 49, 10.1093/genetics/49.1.49 Li, 1997, Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis, Hum Mol Genet, 6, 1021, 10.1093/hmg/6.7.1021 Longstreth, 1993, Clinical course of spontaneous subarachnoid hemorrhage: a population-based study in King County, Washington, Neurology, 43, 712, 10.1212/WNL.43.4.712 Miskolczi, 1998, Saccular aneurysm induction by elastase digestion of the arterial wall: a new animal model, Neurosurgery, 43, 595, 10.1097/00006123-199809000-00110 Nakagawa, 1994, The incidence and treatment of asymptomatic, unruptured cerebral aneurysms, J Neurosurg, 80, 217, 10.3171/jns.1994.80.2.0217 Peoples, 2000, A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome-deletion region at 7q11.23, Am J Hum Genet, 66, 47, 10.1086/302722 Phillips, 1980, The unchanging pattern of subarachnoid hemorrhage in a community, Neurology, 30, 1034, 10.1212/WNL.30.10.1034 Ronkainen, 1997, Familial intracranial aneurysms, Lancet, 349, 380, 10.1016/S0140-6736(97)80009-8 Sacco, 1984, Subarachnoid and intracerebral hemorrhage: natural history, prognosis, and precursive factors in the Framingham Study, Neurology, 34, 847, 10.1212/WNL.34.7.847 Schievink, 1997, Genetics of intracranial aneurysms, Neurosurgery, 40, 651, 10.1097/00006123-199704000-00001 Schievink, 1995, Familial aneurysmal subarachnoid hemorrhage: a community-based study, J Neurosurg, 83, 426, 10.3171/jns.1995.83.3.0426 Schievink, 1994, On the inheritance of intracranial aneurysms, Stroke, 25, 2028, 10.1161/01.STR.25.10.2028 Schievink, 1995, Sudden death from aneurysmal subarachnoid hemorrhage, Neurology, 45, 871, 10.1212/WNL.45.5.871 Stebens, 1963, Histopathology of cerebral aneurysms, Arch Neurol, 8, 272, 10.1001/archneur.1963.00460030056005 Szabo, 1999, Sequential loss of two neighboring exons of the tropoelastin gene during primate evolution, J Mol Evol, 49, 664, 10.1007/PL00006587 Tassabehji, 1997, Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis, Hum Mol Genet, 6, 1029, 10.1093/hmg/6.7.1029 Tromp, 1991, A to G polymorphism in ELN gene, Nucleic Acids Res, 19, 4314, 10.1093/nar/19.15.4314-a Ujiie, 1993, Clinical analysis of incidentally discovered unruptured aneurysms, Stroke, 24, 1850, 10.1161/01.STR.24.12.1850 Urban, 1997, A tetranucleotide repeat polymorphism within the human elastin gene (ELNi1), Clin Genet, 51, 133, 10.1111/j.1399-0004.1997.tb02438.x Urban, 1999, Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts, Hum Genet, 104, 135, 10.1007/s004390050926