颅内动脉瘤患者COL1A2基因rs42524位点多态性检测与分析

Detection and analysis of the polymorphism of rs42524 of type I collagen alpha2 gene in intracranial aneurysms

目的I型胶原蛋白以链（COL1A2）基因已被证明与日本家族性颅内动脉瘤的发病机制相关，在中国汉族颅内动脉瘤患者中检测与分析COL1A2基因rs42524位点C／G多态性。方法利用PCR—RFLP方法，比较226例颅内动脉瘤与326例正常对照之间COL1A2基因rs42524位点的基因型及等位基因频率的构成。结果在动脉瘤组和对照组之间rs42524位点的GC＋CC基因型频率分布差异有统计学意义（16．37％：7．06％，Χ^2=11．99，P=0．002），C等位基因频率分布差异也有统计学意义（8．63％：3．68％，Χ^2=11．96，P=0．001）。用logistic回归纠正性别和年龄因素结果没有改变。结论在中国汉族人群中颅内动脉瘤组和对照组之间COL1A2基因的rs42524位点多态性差异有统计学意义。

Objective Type I Collagen alpha2 （COL1A2） gene on chromosome 7q22. 1 had been showed to be associated with Japanese familial intracranial aneurysms. In this study, the purpose was to detect and analyze the polymorphism of rs42524 of I COL1A2 gene in intracranial aneurysms in Chinese Hart nationality. Methods To compare the genotype frequency and C allele frequency of polymorphism of rs42524 of COL1A2 in 226 patients with intracranial aneurysms and 326 controls by polymerase chain reaction - restriction fragment length polymorphism （ PCR - RFLP ） method. Results The GC ＋ CC genotype frequency of aneurysm group （ 16. 37% ） was much higher than that of the control group （7.06%） （ Χ^2 = 11.96, P = 0. 001 ） . The C allele frequency of aneurysm group （ 8. 63% ） was also higher than that of the control group （ 3.68% ） （Χ^2 = 10. 75, P = 0. 001 ）. Adjustment for age and sex using logistic regression did not change the conclusions （Χ^2 = 10. 90, P = 0. 001 ）. Conclusion There is significant difference of polymorphism rs42524 of COL1A2 between intracranial aneurysms and controls in Chinese Han nationality. The variant COL1A2 gene could be a genetic risk factor for intracranial aneurisms.