Genetic analysis of familial connective tissue alterations associated with cervical artery dissections suggests locus heterogeneity

Stroke

Volumn 37, Issue 7, 2006, Pages 1697-1702

  Wiest, Tina ^a   Hyrenbach, Sonja ^a   Bambul, Pinar ^a   Erker, Birgit ^b   Pezzini, Alessandro ^c   Hausser, Ingrid ^a   Arnold, Marie Luise ^a   Martin, Juan José ^d   Engelter, Stefan ^e   Lyrer, Philippe ^e   Busse, Otto ^b   Brandt, Tobias ^a,f   Grond Ginsbach, Caspar ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b KLINIKUM MINDEN   (Germany)

^c UNIVERSITY OF BRESCIA   (Italy)

^d Sanatorio Allende   (Argentina)

^e UNIVERSITY HOSPITAL BASEL   (Switzerland)

^f Kliniken Schmieder   (Germany)

Author keywords

Cerebrovascular disorder; Cervical artery dissection; Genetic linkage analysis

Indexed keywords

CHONDROITIN SULFATE; FIBROBLAST GROWTH FACTOR RECEPTOR 2; PROTEIN LYSINE 6 OXIDASE; PROTEOGLYCAN; CSPG4 PROTEIN, HUMAN; LOXL1 PROTEIN, HUMAN; MEMBRANE PROTEIN; OXIDOREDUCTASE; PROTEOCHONDROITIN SULFATE;

AGED; ARTERY DISSECTION; ARTICLE; CASE REPORT; CHROMOSOME 10Q; CHROMOSOME 15Q; CONNECTIVE TISSUE DISEASE; ELECTRON MICROSCOPY; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC MARKER; GENOME; HUMAN; HUMAN TISSUE; PHENOTYPE; PRIORITY JOURNAL; SKIN BIOPSY; UTERINE CERVIX; UTERINE CERVIX BIOPSY; ADULT; BIOPSY; CAROTID ARTERY INJURY; CEREBROVASCULAR ACCIDENT; CHROMOSOME 10; CHROMOSOME 15; CHROMOSOME MAP; CONNECTIVE TISSUE; DISSECTING ANEURYSM; FEMALE; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION; GENETICS; MALE; MIDDLE AGED; PATHOLOGY; PEDIGREE; POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN;

ADULT; AGED; AMINO ACID OXIDOREDUCTASES; ANEURYSM, DISSECTING; BIOPSY; CAROTID ARTERY, INTERNAL, DISSECTION; CEREBROVASCULAR ACCIDENT; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 10; CHROMOSOMES, HUMAN, PAIR 15; CONNECTIVE TISSUE; CONNECTIVE TISSUE DISEASES; FEMALE; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LOD SCORE; MALE; MEMBRANE PROTEINS; MIDDLE AGED; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEOCHONDROITIN SULFATES; SKIN;

EID: 33745948637     PISSN: 00392499     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.STR.0000226624.93519.78     Document Type: Article

References (32)

1. Guillon B, Levy C, Bousser MG. Internal carotid artery dissection: an update. J Neurol Sci. 1998;153:146-158.
2. Schievink W. Spontaneous dissection of the carotid and vertebral arteries. N Engl J Med. 2001;344:898-906.
3. Brandt T, Grond-Ginsbach C. Spontaneous cervical artery dissection - from risk factors towards pathogenesis. Stroke. 2002;33:657-658.
4. Rubinstein SM, Peerdeman SM, van Tulder MW, Riphagen I, Haldeman S. A systematic review of the risk factors for cervical artery dissection. Stroke. 2005;36:1575-1580.
5. Grond-Ginsbach C, Debette S, Pezzini A. Genetic approaches in the study of risk factors for cervical artery dissection. In: Baumgartner RW, Bogousslavsky J, Caso V, Paciaroni M, eds. Handbook of Cerebral Artery Dissection. Basel, Switzerland: S Karger AG, 2005;30-43.
6. Brandt T, Hausser I, Orberk E, Grau A, Hartschuh W, Anton-Lamprecht I, Hacke W. Ultrastructural connective tissue abnormalities in patients with spontaneous cervico-cerebral artery dissections. Ann Neurol. 1998;44:281-285.
7. Brandt T, Orberk E, Weber R, Werner I, Busse O, Muller BT, Wigger F, Grau A, Grond-Ginsbach C, Hausser I. Pathogenesis of cervical artery dissections: Association with connective tissue abnormalities. Neurology. 2001;57:24-30.
8. Hausser I, Müller U, Engelter S, Lyrer P, Pezzini A, Padovani A, Moormann B, Busse O, Weber R, Brandt T, Grond-Ginsbach C. Different types of connective tissue alterations associated with cervical artery dissections. Acta Neuropathol. 2004;107:509-514.
9. Grond-Ginsbach C, Klima B, Weber R, Striegel J, Fischer Chr, Hacke W, Brandt T, Hausser I. Exclusion mapping of the genetic predisposition for cerebral artery dissections by linkage analysis. Ann Neurol. 2002;52:359-363.
10. Pezzini A, Hausser I, Brandt T, Padovani A, Grond-Ginsbach C. Internal carotid artery dissection after French horn playing. Spontaneous or traumatic event? J Neurol. 2003;250:1004-1005.
11. Kruglyak L, Lander ES. Faster multipoint linkage analysis using Fourier transforms. J Comput Biol. 1998;5:1-7.
12. Grond-Ginsbach C, Weber R, Haas J, Orberk E, Kunz S, Busse O, Hausser I, Brandt T, Wildemann B. Mutations in the COL5A1 coding sequence are not common in patients with spontaneous cervical artery dissections. Stroke. 1999;30:1887-1890.
13. Hasham SN, Willing MC, Guo DC, Muilenburg A, He R, Tran VT, Scherer SE, Shete SS, Milewicz DM. Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25. Circulation. 2003;107:3184-3190.
14. Collod G, Babron MC, Jondeau G, Coulon M, Weissenbach J, Dubourg O, Bourdarias JP, Bonaiti-Pellie C, Junien C, Boileau C. A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. Nat Genet. 1994;8:264-268.
15. Guo D, Hasham S, Kuang SQ, Vaughan CJ, Boerwinkle E, Chen H, Abuelo D, Dietz HC, Basson CT, Shete SS, Milewicz DM. Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13-14. Circulation. 2001;103:2461-2468.
16. Vaughan CJ, Casey M, He J, Veugelers M, Henderson K, Guo D, Campagna R, Roman MJ, Milewicz DM, Devereux RB, Basson CT. Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder. Circulation. 2001;103:2469-2475.
17. Kakko S, Raisanen T, Tamminen M, Airaksinen J, Groundstroem K, Juvonen T, Ylitalo A, Uusimaa P, Savolainen MJ. Candidate locus analysis of familial ascending aortic aneurysms and dissections confirms the linkage to the chromosome 5q13-14 in Finnish families. J Thorac Cardiovasc Surg. 2003;126:106-113.
18. Nahed BV, Seker A, Guclu B, Ozturk AK, Finberg K, Hawkins AA, DiLuna ML, State M, Lifton RP, Gunel M. Mapping a Mendelian Form of Intracranial Aneurysm to 1p34.4-p36.13. Am J Hum Genet. 2005;76:172-179.
19. Roos YBWEM, Pals G, Struycken PM, Rinkel GJE, Limburg M, Pronk JC, van den Berg JSP, Luijten JAFM, Pearson PL, Vermeulen M, Westerveld A. Genome-wide linkage in a large Dutch consanguineous family maps a locus for intracranial aneurysms to chromosome 2p13. Stroke. 2004;35:2276-2281.
20. Onda H, Kasuya H, Yoneyama T, Takakura K, Hori T, Takeda J, Nakajima T, Inoue I. Genomewide-linkage and haplotype-association studies map intracranial aneurysm to chromosome 7q11. Am J Hum Genet. 2001;69:804-819.
21. Yoneyama T, Kasuya H, Onda H, Akagawa H, Hashiguchi K, Nakajima T, Hori T, Inoue I. Collagen type I α2 (COL1A2) is the susceptible gene for intracranial aneurysms. Stroke. 2004;35:443-448.
22. Yamada S, Utsunomiya M, Inoue K, Nozaki K, Inoue S, Takenaka K, Hashimoto N, Koizumi A. Genome-wide scan for Japanese familial intracranial aneurysms: linkage to several chromosomal regions. Circulation. 2004;110:3727-3733.
23. van der Voet M, Olson JM, Kuivaniemi H, Dudek DM, Skunca M, Ronkainen A, Niemela M, Jaaskelainen J, Hernesniemi J, Helin K, Leinonen E, Biswas M, Tromp G. Intracranial aneurysms in Finnish families: confirmation of linkage and refinement of the interval to chromosome 19q13.3. Am J Hum Genet. 2004;74:564-571.
24. Wight TN, Merrilees MJ. Proteoglycans in atherosclerosis and restenosis: key roles for Versican. Circ Res. 2004;94:1158-1167.
25. Theocharis AD, Tsolakis I, Hjerpe A, Karamanos NK. Human abdominal aortic aneurysm is characterized by decreased versican concentration and specific downregulation of versican isoform V(0). Atherosclerosis. 2001;154:367-376.
26. Liu X, Zhao Y, Gao J, Pawlyk B, Starcher B, Spencer JA, Yanagisawa H, Zuo J, Li T. Elastic fiber homeostasis requires lysyl oxidase-like 1 protein. Nature Genetics. 2004;36:178-182.
27. Mäki JM, Räsänen J, Tikkanen H, Sormunen R, Mäkikallio K, Kivirikko KI, Soininen R. Inactivation of the Lysyl Oxidase gene Lox leads to aortic aneurysms, cardiovascular dysfunction, and perinatal death in mice. Circulation. 2002;106:2503-2509.
28. Sibon I, Sommer P, Lamaziere JM, Bonnet J. Lysyl oxidase deficiency: a new cause of human arterial dissection. Heart. 2005;91:e33.
29. Gratacos M, Nadal M, Martin-Santos R, Pujana MA, Gago J, Peral B, Armengol L, Ponsa I, Miro R, Bulbena A, Estivill X. A polymorphic genomic duplication on human chromosome 15 is a susceptibility factor for panic and phobic disorders. Cell. 2001;106:367-379.
30. Pujana MA, Nadal M, Gratacos M, Peral B, Csiszar K, Gonzalez-Sarmiento R, Sumoy L, Estivill X. Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26. Genome Res. 2001;11:98-111.
31. Vermeulen SJ, Menten B, De Bie S, Coucke P, Loeys B, Malfait F, De Backer J, Speleman F, De Paepe A. DUP25 remains unconfirmed. Am J Med Genet A. 2004;131:320-321.
32. Pannu H, Fadulu VT, Chang J, Lafont A, Hasham SN, Sparks E, Giampietro PF, Zaleski C, Estrera AL, Safi HJ, Shete S, Willing MC, Raman CS, Milewicz DM. Mutations in transforming growth factor-β receptor type II cause familial thoracic aortic aneurysms and dissections. Circulation. 112:513-520.