作　　者： (郭雅欣）; (裴晓婷）; (王黎）; (卢明）; (时立瞳）; (沈岩）; (刘莉）;

机构地区： 郑州大学基础医学院组织学与胚胎学系，450001

出　　处： 《中华内分泌代谢杂志》 2017年第8期651-655,共5页

摘　　要： 目的研究PRDM16基因单核苷酸多态性（single nucleotide polymorphism，SNPs）及其交互作用与血脂异常的关系。方法采用snapshot或连接酶检测技术检测528例受试者PRDM16基因rs2651899、rs2236518、rs870171、rs2282198四个位点的基因型。分析基因型、等位基因在病例组和对照组之间的差异；采用SHE-sis在线软件进行连锁不平衡分析，利用MDR软件分析SNPs位点与性别、年龄、BMI之间的交互作用。结果各SNP位点满足哈温平衡。PRDM16基因rs2651899位点等位基因A在HDL-C异常组和对照组的分布差异有统计学意义[OR（95%CI）＝1.32（1.02～1.71）, P＝0.033]。rs870171的A/C基因型频率在LDL-C异常组和对照组之间的分布差异有统计学意义[OR（95%CI）＝1.97（1.01～3.86）, P＝0.037]。rs2236518位点与性别之间可能存在交互作用，是HDL-C降低的危险因素[模型Ⅱ： OR（95%CI）＝1.958（1.366～2.809）, P〈0.01]。rs2651899、rs2236518、rs870171、rs2282198四位点之间可能存在交互作用，是HDL-C降低的危险因素[模型Ⅳ： OR（95%CI）＝3.991（2.707～5.884）, P〈0.01]。rs870171、rs2282198与年龄之间可能存在交互作用，是LDL-C升高的危险因素[模型Ⅶ：OR（95%CI）＝11.544（4.109～32.430）, P〈0.01]。结论PRDM16基因rs2651899位点的等位基因A可能是低HDL-C的危险因素，在共显性遗传模式下，PRDM16基因rs870171位点的A/C基因型可能是高LDL-C的危险因素。此外SNPs位点与性别、年龄之间可能存在交互作用。 ObjectiveThe aim of this study was to evaluate whether PRDM16 gene polymorphisms were associated with dyslipidemia.MethodsThe polymorphisms of rs2651899, rs2236518, rs870171, and rs2282198 in PRDM16 gene in 528 participants were genotyped by the method of snapshot or ligase detection reaction. The genotype differences and the allele differences between the case group and the control group were analyzed. Linkage disequilibrium analysis was performed with SHE-sis online software. The interaction between rs2651899, rs2236518, rs870171, rs2282198 and gender, age, BMI were analyzed by MDR software.ResultsThe frequency of allele A in rs2651899 locus was significantly higher in low HDL-C group compared with that in control group[OR（95%CI）=1.32（1.02-1.71）, P=0.033]. The frequency of A/C genotype in rs870171 was significantly different between LDL-C abnormal group and control group[OR（95%CI）=1.97（1.01-3.86）, P=0.037]. There may be interaction between rs2236518 and sex, which is a risk factor for low HDL-C[Model Ⅱ： OR（95%CI）=1.958（1.366-2.809）, P〈0.01]. There may be interactions among rs2651899, rs2236518, rs870171, and rs2282198, which seemed to be risk factors for lower HDL-C[Model Ⅳ： OR（95%CI）=3.991（2.707-5.884）, P〈0.01]. rs870171, rs2282198 may have interaction with age, which is a risk factor for high LDL-C [Model Ⅶ： OR（95%CI）=3.991（2.707-5.884）, P〈0.01].ConclusionAllele A of rs2651899 may be a risk factor to low HDL-C. Under the codominant inheritance patterns, genotype A/C of rs870171 may be a risk factor to high LDL-C. In addition, there may be interaction between SNPs with gender and age.

关 键 词： 基因 单核苷酸多态性 交互作用 血脂异常