title: Identification of DNA copy number aberrations by array comparative genomic hybridization in patients with ruptured intracranial aneurysms.
abstract: We aimed to use array comparative genomic hybridization (CGH) to identify chromosomal loci that contribute to the pathogenesis of ruptured intracranial aneurysms (IAs) in a Korean population and to confirm the results using real-time polymerase chain reaction (PCR). Twenty-three patients with ruptured IAs were enrolled in this study. Array CGH revealed copy number aberrations in 19 chromosomal regions. Chromosomal gains were identified at a high frequency in regions 1p12, 4q24, 5p15.31, 5p15.33, 6p12.2, 6q22.33, 7p21.1, 9q22.1, 10q24.32, 10q26.3, 12q13.13, 17p12, 18q12.3, 18q23, 19p13.3, 20q13.33, 21q11.2, and 21q22.3, whereas chromosomal losses were identified at 15q11.2 and 22q11.21. Real-time PCR confirmed the results of the array CGH studies of the COL6A2, GRIN3B, MUC17, and PRODH genes. This is the first study to identify candidate regions by array CGH in patients with IAs. The identification of genes that may predispose an individual to the development of IAs may lead to a better understanding of the mechanism of IA formation. Multicenter studies comparing cohorts of patients of different ethnicities are needed to better understand the mechanism of IA formation.
authors.affiliation: Catholic Neuroscience Center, The Catholic University of Korea, 505 Banpo-dong, Seocho-gu, Seoul 137-701, Korea.
authors.forename: Jin Soo
authors.initials: JS
authors.lastname: Choi
authors.forename: Seong-Rim
authors.initials: SR
authors.lastname: Kim
authors.forename: Yang-Whan
authors.initials: YW
authors.lastname: Jeon
authors.forename: Kweon-Haeng
authors.initials: KH
authors.lastname: Lee
authors.forename: Hyoung Kyun
authors.initials: HK
authors.lastname: Rha
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D017542:Aneurysm, Ruptured / Q000150:complications / Q000235:genetics*; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D024142:Collagen Type VI / Q000235:genetics; D055028:Comparative Genomic Hybridization / Q000379:methods; D005260:Female; D006801:Humans; D002532:Intracranial Aneurysm / Q000150:complications / Q000235:genetics*; D007723:Korea; D008297:Male; D008875:Middle Aged; D009077:Mucins / Q000235:genetics; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods; D011394:Proline Oxidase / Q000235:genetics; D016194:Receptors, N-Methyl-D-Aspartate / Q000235:genetics
chemical_list: C504344:COL6A2 protein, human; D024142:Collagen Type VI; C450720:MUC17 protein, human; D009077:Mucins; C121001:NR2B NMDA receptor; D016194:Receptors, N-Methyl-D-Aspartate; D011394:Proline Oxidase