title: The role of collagen type I alpha2 polymorphisms: intracranial aneurysms in Koreans.
abstract: BACKGROUND
  The COL1A2 is located on chromosome 7q22.1, and mutations in this gene have been associated with the development of IAs. In this study, we investigated whether the rs42524 and rs2621215 polymorphisms of the COL1A2 gene are associated with the development of cerebral aneurysms in the Korean population.
  
  
  METHODS
  This was a hospital-based case control study conducted at Chonnam University Hospital, Gwangju, Korea. The study population consisted of 320 patients who had been treated for IA and 189 healthy hospital-based controls (angiographically negative for an IA). Two polymorphic loci were amplified by polymerase chain reaction, namely, rs42524 in exon 28 and rs2621215 in intron 46 of the COL1A2 gene, and analyzed by RFLP using HhaI or BfaI restriction enzymes, respectively.
  
  
  RESULTS
  The genotype frequencies of rs42524 in cases were 88.0%, 11.4%, and 0.6% for the GG, GC, and CC genotypes, respectively, and in controls were 88.9%, 10.0%, and 1.1%, respectively. Similarly, the genotype frequencies of rs2621515 in cases were 88.0%, 10.1%, and 0.2% for the TT, TG, and GG genotypes, respectively, and among controls were 92.1%, 7.9%, and 0%, respectively.
  
  
  CONCLUSIONS
  The rs2621215 SNP in intron 46 of the COL1A2 gene was found to be marginally associated with an increased risk of IA development in the Korean population examined. In contrast, rs42524 showed no association with an increased risk of IA development.
authors: Department of Neurosurgery, Chonnam National University Hospital and Medical School, Gwangju, Republic of Korea.
authors: Sung-Pil
authors: SP
authors: Joo
authors: Tae-Sun
authors: TS
authors: Kim
authors: Il-Kwon
authors: IK
authors: Lee
authors: Jung-Kil
authors: JK
authors: Lee
authors: Bo-Ra
authors: BR
authors: Seo
authors: Jae-Hyoo
authors: JH
authors: Kim
authors: Soo-Han
authors: SH
authors: Kim
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People; D016022:Case-Control Studies; D002536:Cerebral Arteries / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D024042:Collagen Type I / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005109:Extracellular Matrix / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D002532:Intracranial Aneurysm / Q000208:ethnology / Q000235:genetics* / Q000503:physiopathology; D007723:Korea / Q000208:ethnology; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D055815:Young Adult
chemical_list: D024042:Collagen Type I; D005819:Genetic Markers