Polymorphism rs42524 of COL1A2 and sporadic intracranial aneurysms in the Chinese population

Journal of Neurosurgery

Volumn 109, Issue 6, 2008, Pages 1060-1064

  Zhu, Yufang ^a,e   Li, Weiju ^b   Ge, Mingxu ^a   Xu, Shangchen ^a   Zhao, Guangyu ^a   Wang, Hanbin ^a   Qian, Haiyan ^c   Zhu, Ningxi ^d,e   Pang, Qi ^a  

^a SHANDONG UNIVERSITY   (China)

^b PEKING UNION MEDICAL COLLEGE   (China)

^c CAPITAL MEDICAL UNIVERSITY   (China)

^d SHANDONG UNIVERSITY   (China)

^e SHANDONG CANCER HOSPITAL AND INSTITUTE   (China)

Author keywords

Collagen; Collagen 2 (I) gene; Genetics; Intracranial aneurysm; Polymorphism

Indexed keywords

COLLAGEN TYPE 1; COLLAGEN TYPE 1 ALPHA 2; UNCLASSIFIED DRUG; ALPHA 2(I) COLLAGEN; COLLAGEN;

ADULT; ARTICLE; CHINESE; CHROMOSOME 7Q; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENOTYPE; HUMAN; INTRACRANIAL ANEURYSM; MAJOR CLINICAL STUDY; MALE; NEUROLOGIC EXAMINATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RATING SCALE; RESTRICTION MAPPING; SINGLE NUCLEOTIDE POLYMORPHISM; CASE CONTROL STUDY; CHI SQUARE DISTRIBUTION; CHINA; ETHNOLOGY; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED;

ADULT; CASE-CONTROL STUDIES; CHI-SQUARE DISTRIBUTION; CHINA; COLLAGEN; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INTRACRANIAL ANEURYSM; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 58149381651     PISSN: 00223085     EISSN: 19330693     Source Type: Journal    
DOI: 10.3171/JNS.2008.109.12.1060     Document Type: Article

References (22)

1. Arnold M.-L. Grond-Ginsbach C. Hausser I. Brandt T. Krischek B. Inoue I. Kasuya H. Collagen morphology is not associated with the Ala549Pro polymorphism of the COL1A2 gene [4] (multiple letters) Stroke 2005 36 10 2068-2069 1. Arnold ML, Grond-Ginsbach C, Hausser I, Brandt T: Collagen morphology is not associated with the Ala549 Pro polymorphism of the COL1A2 gene. Stroke 36:2068-2069, 2005 (Letter) (Pubitemid 41429218)
2. Dalgleish R: The human type I collagen mutation database. Nucleic Acids Res 25:181-187, 1997
3. Gajko-Galicka A: Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans. Acta Biochim Pol 49:433-441, 2002
4. Grond-Ginsbach C, Schnippering H, Hausser I, Weber R, Werner I, Steiner HH, et al: Ultrastructural connective tissue aberrations in patients with intracranial aneurysms. Stroke 33:2192-2196, 2002
5. Hofer A. Hermans M. Kubassek N. Sitzer M. Funke H. Stogbauer F. Ivaskevicius V. Oldenburg J. Burtscher J. Knopp U. Schoch B. Wanke I. Hubner F. Deinsberger W. Meyer B. Boecher-Schwarz H. Poewe W. Raabe A. Steinmetz H. Auburger G. Elastin polymorphism haplotype and intracranial aneurysms are not associated in Central Europe Stroke 2003 34 5 1207-1211 DOI 10.1161/01.STR. 0000069013.83336.1C 5. Hofer A, Hermans M, Kubassek N, Sitzer M, Funke H, Stogbauer F, et al: Elastin polymorphism haplotype and intracranial aneurysms are not associated in central Europe. Stroke 34:1207-1211, 2003 (Pubitemid 36547515)
6. Hunt WE, Hess RM: Surgical risk as related to time of intervention in the repair of intracranial aneurysms. J Neurosurg 28:14-20, 1968
7. Iwamoto H. Kiyohara Y. Fujishima M. Kato I. Nakayama K. Sueishi K. Tsuneyoshi M. 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 1999 30 7 1390-1395 7. Iwamoto H, Kiyohara Y, Fujishima M, Kato I, Nakayama K, Sueishi K, 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)
8. Kuhlenbaumer G. Konrad C. Kramer S. Kis B. Nabavi D. Dittrich R. Ringelstein E.B. The collagen 1A2 polymorphism rs42524, which is associated with intracranial aneurysms, shows no association with spontaneous cervical artery dissection (sCAD) [2] Journal of Neurology, Neurosurgery and Psychiatry 2006 77 1 124-125 DOI 10.1136/jnnp.2005.065847 8. Kuhlenbäumer G, Konrad C, Krämer S, Kis B, Nabavi D, Dittrich R, et al: The collagen 1A2 polymorphism rs42524, which is associated with intracranial aneurysms, shows no association with spontaneous cervical artery dissection (sCAD). J Neurol Neurosurg Psychiatry 77:124-125, 2006 (Letter) (Pubitemid 43022713)
9. Kuivaniemi H. Prockop D.J. Wu Y. Madhatheri S.L. Kleinert C. Earley J.J. Jokinen A. Stolle C. Majamaa K. Myllyla V.V. Norrgard O. Schievink W.I. Mokri B. Fukawa O. Ter Berg J.W.M. De Paepe A. Lozano A.M. Leblanc R. Tromp G. Exclusion of mutations in the gene for type III collagen (COL3A1) as a common cause of intracranial aneurysms or cervical artery dissections: Results from sequence analysis of the coding sequences of type III collagen from 55 unrelated patients Neurology 1993 43 12 I 2652-2658 9. Kuivaniemi H, Prockop DJ, Wu Y, Madhatheri SL, Kleinert C, Earley JJ, et al: Exclusion of mutations in the gene for type III collagen (COL3A1) as a common cause of intracranial aneurysms or cervical artery dissections: results from sequence analysis of the coding sequences of type III collagen from 55 unrelated patients. Neurology 43:2652-2658, 1993 (Pubitemid 24004562)
10. Miller SA, Dykes DD, Polesky HF: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215, 1988
11. 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 American Journal of Human Genetics 2001 69 4 804-819 DOI 10.1086/323614 11. Onda H, Kasuya H, Yoneyama T, Takakura K, Hori T, Takeda J, et al: Genomewide-linkage and haplotype-association studies map intracranial aneurysm to chromosome 7q11. Am J Hum Genet 69:804-819, 2001 (Pubitemid 32868525)
12. Peters D.G. Kassam A.B. Feingold E. Heidrich-O'Hare E. Yonas H. Ferrell R.E. Brufsky A. Molecular anatomy of an intracranial aneurysm coordinated expression of genes involved in wound healing and tissue remodeling Stroke 2001 32 4 1036-1042 12. Peters DG, Kassam AB, Feingold E, Heidrich-O'Hare E, Yonas H, Ferrell RE, et al: Molecular anatomy of an intracranial aneurysm: coordinated expression of genes involved in wound healing and tissue remodeling. Stroke 32:1036-1042, 2001 (Pubitemid 32285179)
13. Pfeiffer BJ, Franklin CL, Hsieh FH, Bank RA, Phillips CL: Alpha 2(I) collagen deficient OIM mice have altered biomechanical integrity, collagen content, and collagen crosslinking of their thoracic aorta. Matrix Biol 24:451-458, 2005
14. Rinkel G.J.E. Djibuti M. Algra A. Van Gijn J. Prevalence and risk of rupture of intracranial aneurysms: A systematic review Stroke 1998 29 1 251-256 14. Rinkel GJ, 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)
15. Ruigrok Y.M. Buskens E. Rinkel G.J.E. Attributable risk of common and rare determinants of subarachnoid hemorrhage Stroke 2001 32 5 1173-1175 15. Ruigrok YM, Buskens E, Rinkel GJE: Attributable risk of common and rare determinants of subarachnoid hemorrhage. Stroke 32:1173-1175, 2001 (Pubitemid 32825804)
16. Ruigrok YM, Rinkel GJ, Wijmenga C: Genetics of intracranial aneurysms. Lancet Neurol 4:179-189, 2005
17. Shapiro JR, Mcbride DJ Jr, Fedarko NS: OIM and related animal models of osteogenesis imperfecta. Connect Tissue Res 31:265-268, 1995
18. Teunissen L.L. Rinkel G.J.E. Algra A. Van Gijn J. Risk Factors for Subarachnoid Hemorrhage a Systematic Review Stroke 1996 27 3 544-549 18. Teunissen LL, Rinkel GJE, Algra A, van Gijn J: Risk factors for subarachnoid hemorrhage: a systematic review. Stroke 27:544-549, 1996 (Pubitemid 126425923)
19. Wills S. Ronkainen A. Van der Voet M. Kuivaniemi H. Helin K. Leinonen E. Frosen J. Niemela M. Jaaskelainen J. Hernesniemi J. Tromp G. Familial intracranial aneurysms: An analysis of 346 multiplex Finnish families Stroke 2003 34 6 1370-1374 DOI 10.1161/01.STR.0000072822.35605.8B 19. Wills S, Ronkainen A, van der Voet M, Kuivaniemi H, Helin K, Leinonen E, et al: Familial intracranial aneurysms: an analysis of 346 multiplex Finnish families. Stroke 34:1370-1374, 2003 (Pubitemid 36693500)
20. 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 24 3727-3733 DOI 10.1161/01.CIR.0000143077.23367.18 20. Yamada S, Utsunomiya M, Inoue K, Nozaki K, Inoue S, Takenaka K, et al: Genome-wide scan for Japanese familial intracranial aneurysms: linkage to several chromosomal regions. Circulation 110:3727-3733, 2004 (Pubitemid 39665264)
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 2 443-448 DOI 10.1161/01.STR.0000110788. 45858.DC 21. Yoneyama T, Kasuya H, Onda H, Akagawa H, Hashiguchi K, Nakajima T, et al: Collagen type I alpha2 (COL1A2) is the susceptible gene for intracranial aneurysms. Stroke 35:443-448, 2004 (Pubitemid 38174427)
22. Zhang B. Fugleholm K. Day L.B. Ye S. Weller R.O. Day I.N.M. Molecular pathogenesis of subarachnoid haemorrhage International Journal of Biochemistry and Cell Biology 2003 35 9 1341-1360 DOI 10.1016/S1357-2725(03)00043-8 22. Zhang B, Fuglehohn K, Day LB, Ye S, Weller RO, Day INM: Molecular pathogenesis of subarachnoid haemorrhage. Int J Biochem Cell Biol 35:1341-1360, 2003 (Pubitemid 36703173)