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

Abstract

OBJECT:

The COL1A2 gene at 7q22.1 has been shown to be associated with familial intracranial aneurysms (IAs) in the Japanese population. In the present study, the authors investigated the correlation between the presence of the rs42524 polymorphism in COL1A2 and the occurrence of sporadic IAs in Chinese patients.

METHODS:

The polymorphism rs42524 of the COL1A2 gene was identified by polymerase chain reaction-based restriction analysis in genomic DNA from 226 patients with sporadic IAs (mean age 51.49 +/- 11.47 years) and 326 control participants (mean age 52.33 +/- 10.50 years). Neurological assessments were performed using the Hunt and Hess grading system, and differences in allelic and genotypic frequencies between the patient and control groups were evaluated with the chi-square test.

RESULTS:

There was a significant difference in either the genotype distribution (chi(2) = 11.99, p = 0.002) or allelic frequencies (chi(2) = 11.96, p = 0.001, odds ratio 2.579, 95% confidence interval 1.486-4.476) between patients with IAs and patients in the control group.

CONCLUSIONS:

The rs42524 polymorphism of COL1A2 could be a genetic risk factor for sporadic IAs among individuals of Chinese Han ethnicity. This study is the first to confirm the association between COL1A2 and IAs.

• Authors: Yufang Zhu, Weiju Li, Mingxu Ge, Shangchen Xu, Guangyu Zhao, Hanbin Wang, Haiyan Qian, Ningxi Zhu, Qi Pang
• Journal: Journal of neurosurgery (J Neurosurg) Vol. 109 Issue 6 Pg. 1060-4 (Dec 2008) ISSN: 0022-3085 [Print] United States
• PMID: 19035720 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Collagen Type I
• Collagen

Topics

• Adult
• Case-Control Studies
• Chi-Square Distribution
• China
• Collagen (genetics)
• Collagen Type I
• Female
• Gene Frequency (genetics)
• Genetic Predisposition to Disease (ethnology, genetics)
• Genotype
• Humans
• Intracranial Aneurysm (ethnology, genetics)
• Male
• Middle Aged
• Polymorphism, Single Nucleotide (genetics)