上海地区汉族人群护骨素基因G1181C多态性及其血清浓度与急性冠脉综合征的相关性研究

Correlation of osteoprotegerin gene polymorphisms G1181C and osteoprotegerin serum levels with the presence of acute coronary syndrome

目的探讨护骨素(osteoprotegerin,OPG)基因G1181C位点基因多态性及其血清浓度与急性冠脉综合征(acute coronarysyndrome,ACS)的相关性。方法 134名胸痛患者根据冠状动脉造影及病史分为正常对照组65名和ACS组69名。ELISA法测定入院时血清OPG水平。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OPGG1181C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。结果在对照组和ACS组之间,OPG基因G1181C的各基因型频率和分布差异无统计学意义,但ACS组的C等位基因分布频率要显著高于对照组;在对照组和ACS组之间,G1181C各基因型血清OPG浓度差异无统计学意义。结论 OPG基因SNPs G1181C各基因型及其血清浓度与ACS无相关性;C等位基因可能是ACS的致病因子。

Objective To investigate the association between the single nucleotide polymorphisms （SNPs）, G1181C of osteoprotegerin （OPG） gene and its serum levels with the presence of Acute Coronary Syndrome（ACS）. Methods We investigated 134 Chinese Han patients in Shanghai. The patients were divided into two groups by the presence of ACS and coronary angiography ： 69 with ACS and 65 control group （without CA＇D）. The serum concentrations of OPG were determined by ELISA. The genomic DNA was extracted using die- lectric purification assay. The gene fractions in which the mutations located were selectively amplified from genomic DNA samples using a multiplex polymerase chain reaction （ PCR）, followed by multiplex ligase detection reaction （LDR）. The fluorescence level of LDR-PCR products was detected by DNA sequencer. Results There was no significant diference in frequencies of genotype and allele in polymor- phisms GI 181C between patients with ACS and control group. Conclusion The G1181C polymorphisms of OPG and its serum levels are not associated with the presence of ACS. The C allele might be the pathogenic factor of ACS.