The role of collagen type I α2 polymorphisms: intracranial aneurysms in Koreans
| Autor: | Soo-Han Kim, Jae-Hyoo Kim, Jung-Kil Lee, Sung-Pil Joo, Tae-Sun Kim, Bo-Ra Seo, Il-Kwon Lee |
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| Rok vydání: | 2009 |
| Předmět: |
Adult
Genetic Markers Male medicine.medical_specialty Pathology Adolescent Genotype DNA Mutational Analysis Single-nucleotide polymorphism Gastroenterology Collagen Type I Young Adult Exon Asian People Gene Frequency Internal medicine medicine Humans SNP Genetic Predisposition to Disease Genetic Testing Aged Aged 80 and over Korea Polymorphism Genetic business.industry Case-control study Intracranial Aneurysm Exons Cerebral Arteries Middle Aged Extracellular Matrix Genotype frequency Case-Control Studies Population study Female Surgery Neurology (clinical) Restriction fragment length polymorphism business Chromosomes Human Pair 7 |
| Zdroj: | Surgical Neurology. 72:48-53 |
| ISSN: | 0090-3019 |
| DOI: | 10.1016/j.surneu.2009.02.009 |
| Popis: | 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 Hha I or Bfa I 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. |
| Databáze: | OpenAIRE |
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