The role of collagen type I alpha2 polymorphisms: intracranial aneurysms in Koreans.

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.

Conclusion: 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.