Polymorphism rs42524 of COL1A2 and sporadic intracranial aneurysms in the Chinese population.
OBJECTIVE
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.
Zhu
Yufang
Y
Department of Neurosurgery, Shandong Provincial Hospital of Shandong University, Jinan, China.
Li
Weiju
W
Ge
Mingxu
M
Xu
Shangchen
S
Zhao
Guangyu
G
Wang
Hanbin
H
Qian
Haiyan
H
Zhu
Ningxi
N
Pang
Qi
Q
D000328:Adult; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D002681:China; D003094:Collagen / Q000235:genetics*; D024042:Collagen Type I; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics; D005838:Genotype; D006801:Humans; D002532:Intracranial Aneurysm / Q000208:ethnology* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
D024042:Collagen Type I; D003094:Collagen