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目的探讨福建地区apelin/APJ通路基因多态性与代谢综合征(MS)及其相关组分以及血浆apelin的关系。方法纳入2015年2月至2016年2月福建医科大学附属第一医院心血管内科住院患者1018例,其中MS组457例,非MS组561例,酶联免疫吸附试验(ELISA)法检测血浆apelin36浓度,连接酶检测反应(LDR)探针法检测apelin/APJ基因分型。比较两组间等位基因频率分布情况、不同等位基因分组中各MS组分以及apelin浓度的差异性。结果男性MS受试者apelin基因rs3115757位点的C突变等位基因频率明显高于非MS组(P<0.05);女性MS受试者APJ基因rs7119375位点的A突变等位基因频率明显低于非MS组(P<0.05);Logistic回归分析显示,调整年龄、吸烟、饮酒后,女性携带rs7119375 A突变等位基因者较携带野生等位基因者患MS的风险减少35.4%(OR=0.646,P<0.05)。男性APJ位点rs7119375A、rs10501367T突变等位基因组受试者的空腹血糖高于野生等位基因组(均P<0.05)。调整年龄、腰围、吸烟、饮酒后,Logistic回归分析显示男性携带rs7119375 A、rs10501367T突变等位基因是血糖异常的独立相关因素(OR=1.374、1.443,均P<0.05)。男性APJ位点rs10501367不同基因型间的血浆apelin浓度差异有统计学意义(P<0.05),携带TT突变基因型个体的血浆apelin浓度小于CC基因型和CT基因型(均P<0.05),而携带CC基因型个体的血浆apelin浓度与CT基因型差异无统计学意义(P>0.05)。结论 Apelin/APJ通路基因多态性与MS及血糖异常以及血浆apelin水平明显相关,并且存在性别差异。
Objective To investigate the association of apelin / APJ pathway gene polymorphism with metabolic syndrome (MS) and its related components and plasma apelin in Fujian Province. Methods A total of 1018 inpatients with cardiovascular diseases from the First Affiliated Hospital of Fujian Medical University from February 2015 to February 2016 were enrolled. Among them, 457 were in the MS group and 561 in the non-MS group. Serum apelin36 was detected by enzyme linked immunosorbent assay (ELISA) The apelin / APJ genotyping was detected by ligase detection reaction (LDR) probe method. The frequency distribution of alleles between the two groups, the differences in the concentrations of apelin and MS fractions among different allele groups were compared. Results The frequency of the C allele of rs3115757 in apelin gene was significantly higher in MS subjects than in non-MS subjects (P <0.05). The frequencies of A allele in rs7119375 of APJ gene were significantly lower in MS subjects (P <0.05). Logistic regression analysis showed that women with rs7119375 A mutation allele had a 35.4% (OR = 0.646) risk of developing MS compared with those with wild allele after adjusting for age, smoking, P <0.05). Fasting plasma glucose was higher in male APJ rs7119375A and rs10501367T mutant alleles than in wild allele (all P <0.05). Logistic regression analysis showed that rs7119375 A was inherited in males and the rs10501367T allele was an independent factor related to abnormal blood glucose (OR = 1.374, 1.443, both P <0.05) after adjusting for age, waist circumference, smoking and drinking. Plasma apelin concentrations in different male genotypes of APJ rs10501367 were significantly different (P <0.05). Plasma apelin concentrations of TT genotype individuals were lower than those of CC genotypes and CT genotypes (P <0.05) There was no significant difference in plasma apelin concentration and CT genotype among CC genotypes (P> 0.05). Conclusion Apelin / APJ pathway gene polymorphism is significantly associated with MS and blood glucose levels and plasma apelin levels, and there are gender differences.