CCR2b基因190G/A多态性与脑出血的相关性研究

Relationship between chemokine receptor CCR2b gene 190G/A polymorphim and intracerebral hemorrhage in Hunan population of China

目的探讨趋化因子受体CCR2b基因190G/A多态性与中国湖南地区汉族人群脑出血(ICH)的关系。方法应用聚合酶链反应(PCR)和限制性片段长度多态性(RFLP)技术检测158例脑出血患者和150名年龄、性别相匹配的正常对照者趋化因子受体CCR2b基因190G/A的基因型分布及等位基因频率,比较不同群体的表型差异及其对脑出血的影响。结果中国湖南汉族人群存在趋化因子受体CCR2b基因190G/A多态性,趋化因子受体CCR2b 190G/A基因型分布为AA 3.6%,GA 22.1%和GG 74.3%,等位基因A和G频率分别0.146和0.854。在对照组中,趋化因子受体CCR2 b 190 G/A基因型分布为AA 5.3%,GA 28.0%和GG 66.7%,等位基因A和G频率分别0.193和0.807。在脑出血组中,趋化因子受体CCR2b 190G/A基因型分布为AA 1.9%,GA 16.5%和GG 81.6%,等位基因A和G频率分别0.102和0.898。脑出血组趋化因子受体CCR2 b基因190 G/A多态位点的A等位基因频率显著低于对照组(P<0.05),这种差异在合并高血压和冠心病患者中尤为明显。应用Logistic回归校正了脑出血的环境危险因素后,CCR2b190A仍可使脑出血发生的危险性降低(OR=0.205,95%CI:0.092～0.454,P=0.000)。结论 CCR2b基因190G/A位点的A等位基因可能是湖南地区汉族人群脑出血的一种保护性基因多态。

Objective To explore the relationship of the chemokine receptor CCR2b gene 190G/A polymorphism with intracerebral hemorrhage（ICH） in Han population in Hunan Province.Methods For the case-control study,polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP） was performed to identify the distributions of allele and genotype frequencies of the chemokine receptor CCR2b gene 190G/A polymorphism in 158 patients with ICH and 150 age-and sex-matched healthy controls.Genotypes of different populations were compared to explore the association between the chemokine receptor CCR2b gene 190G/A polymorphism and ICH.Results Chemokine receptor CCR2b gene 190G/A polymorphism existed in Chinese Han people of the Hunan area.In the study population,the frequencies of the chemokine receptor CCR2b 190G/A genotypes were 3.6%（AA）,22.1%（GA） and 74.3%（GG） respectively,and the frequencies of allele A and G were 0.146 and 0.854 respectively.In the control group,the frequencies of the chemokine receptor CCR2b 190G/A genotypes were 5.3%（AA）,28.0%（GA） and 66.7%（GG） respectively,and the frequencies of allele A and G were 0.193 and 0.807 respectively.In the ICH group,the frequencies of the chemokine receptor CCR2b 190G/A genotypes were 1.9%（AA）,16.5%（GA） and 81.6%（GG） respectively,and the frequencies of allele A and G were 0.102 and 0.898 respectively.To the chemokine receptor CCR2b gene 190G/A polymorphism,a significantly lower frequency of A allele was confirmed in the ICH group compared with the control group（P0.05）,especially in patients with hypertention and coronary heart disease.After environmental risk factors for ICH had been adjusted through Logistic regression method,the CCR2b 190A allele was still related to a lower incidence of ICH（OR=0.205,95%CI： 0.092-0.454,P=0.000）.Conclusions CCR2b 190A allele may be a protective gene polymorphism for ICH in Han population of the Hunan area.