上海地区老年汉族人群护骨素基因T950C多态性与冠心病及其严重程度的相关性研究

Study on correlation of osteoprotegerin gene polymorphisms T950C with the presence and severity of coronary artery disease in old Chinese Han people in Shanghai area

目的探讨护骨素（osteoprotegerin，OPG）基因T950C位点基因多态性与冠心病（coronary artery dsease，CAD）及其严重程度的相关性。方法290例行冠状动脉造影患者根据造影结果，分为正常冠脉组102例和冠心病组188例。冠心病组根据病变冠脉病变支数，分为单支组57例、双支组50例、三支组68例、四支组13例；冠心病组再根据病史分为急性冠脉综合征（acute coronary syndrome，ACS）组133例和稳定型冠心病组55例。介质纯化法提取白细胞DNA，聚合酶链式反应（polymerase chain reaction，PCR）扩增包含护骨素T950C位点的DNA片段，连接酶检测反应（ligase detection reaction，LDR）检测PCR产物，识别多态性位点。结果在正常冠脉组和冠心病组之间，在正常冠脉组和ACS组之间，在ACS组和稳定型冠心病组之间，在正常冠脉组和不同病变冠脉数量组之间，护骨素基因T950C的各基因型频率和分布差别无统计意义；冠心病组CC基因型的Gensini评分要高于TT基因型的Gensini评分。结论研究中未发现护骨素基因T950C位点基因多态性与冠心病相关；T950C位点多态性与冠心病的严重程度有相关性，CC基因型的冠脉狭窄程度较TT基因型更严重。

Objective To investigate the association between the single nucleotide polymorphisms （SNPs）, T950C of osteoprotegerin gene with coronary artery disease （CAD） and its severity. Methods We investigated 290 Chinese Han patients underwent coronary angiography. CAD was found in 188 patients. Of 188 CAD patients, 57 had one-vessel, 50 had two-vessel, 68 had three-vessel, and 13 had four-vessel disease. To elucidate the association between polymorphisms and ACS, CAD patients were divided into two groups by the presence of MI or unstable angina： 133 with and 55 without ACS （stable CAD）. The genomic DNA was extracted using dielectric purification assay. The gene fractions in which the mutations are located were selectively amplified from genomic DNA samples using a multiplex PCR, followed by multiplex LDR. The fluorescence level of LDR-PCR products was detected by DNA sequencer. Results There was no significant difference in frequencies of genotype and allele in polymorphisms T950C between patients with CAD and control group, as well as between patients with ACS and patients with stable CAD. Haplotypes were not differently distributed among patients with single-, double-, triple-, or four -vessel disease. Conclusion The osteoprotegerin gene polymorphisms T950C was not associated with the presence and severity of CAD in elderly Chinese Han people in Shanghai area.