张萍 邵岩飞 林小凤 张梦婷

摘要：目的  探討肥胖基因（FTO）多态性位点rs9939609（A/T）与代谢综合征（MS）痰证病位、病性兼杂规律及理化指标的相关性。方法  选择MS痰证患者199例，MS非痰证患者113例，健康人198名，采用证素辨证法分析各证素分布情况;采用SNPscanTM多重SNP分型技术方法检测FTO单核苷酸多态性（SNPs）位点rs9939609的基因型频率、等位基因频率及其与痰证病位、病性兼杂规律的相关性。结果  FTO多态性位点rs9939609的3种基因型频率3组比较差异有统计学意义（P<0.01）;痰证组、非痰证组基因型AA与AT频率高于健康组（P<0.01）。FTO基因位点rs9939609健康组、痰证组等位基因T频率高于非痰证组（P<0.01）。痰证组中，阴虚的TT基因型频率高于非阴虚（P<0.01），AT基因型的男性比例高于女性（P<0.05），AT基因型的低密度脂蛋白（LDL-C）、肌酐（Cr）明显高于TT基因型（P<0.05，P<0.01）。结论  FTO基因与MS形成有关，携带FTO基因多态性位点rs9939609基因型AA、AT和风险等位基因A会增加MS发生风险;FTO多态性位点rs9939609与MS痰证及兼杂病性阴虚的形成相关，FTO是MS痰证易感基因之一;在MS痰证组中，男性更易携带FTO基因多态性位点rs9939609 AT基因型;FTO基因多态性位点rs9939609与MS痰证的LDL-C、Cr代谢有关。

关键词：代谢综合征;痰证;单核苷酸多态性;证素;FTO基因

中图分类号：R259.89    文献标识码：A    文章编号：1005-5304（2019）11-0016-06

analyzed by syndrome differentiation. The SNPscanTM multiplex SNP typing technique was used to detect the genotype frequency and allele frequency of FTO single nucleotide polymorphism （SNPs） locus rs9939609. Meanwhile， the correlation between the FTO gene polymorphism locus rs9939609 and characteristic regularity of location as well as disease nature of MS with phlegm syndrome was analyzed. Results There was statistical significance among the genotype frequencies of the three FTO polymorphisms rs9939609 in the three groups （P<0.01）; the risk genotype homozygote AA and heterozygote AT in the phlegm syndrome group and non-phlegm syndrome group were significantly higher than those in the healthy group （P<0.01）. The FTO allele rs9939609 frequency of allele T in healthy group and phlegm syndrome group was higher than that in non-phlegm syndrome group （P<0.01）. In phlegm syndrome group， the frequency of TT genotype in yin deficiency was much higher than that of non-yin deficiency （P<0.01）; The proportion of males with AT genotype was higher than that of females （P<0.05）; AT genotype LDL-C and Cr were significantly higher than those of TT genotypes （P<0.05， P<0.01）. Conclusion FTO gene is related to the formation of MS. Carrying FTO gene polymorphism locus rs9939609 genotype AA and AT and risk allele A may increase the risk of MS; FTO polymorphism locus rs9939609 may be related to the formation of MS phlegm syndrome and yin deficiency of concurrent miscellaneous diseases; In MS phlegm syndrome， males are more likely to carry the FTO gene polymorphism locus rs9939609 AT genotype; FTO gene polymorphism locus rs9939609 may be related to the metabolism of LDL-C and Cr in MS phlegm syndrome.

Keywords： metabolic syndrome; phlegm syndrome; single nucleotide polymorphism; syndrome element; FTO gene

代谢综合征（metabolic syndrome，MS）是以胰岛素抵抗为基础，包括中心性肥胖、糖耐量减低、糖尿病、高血压、脂代谢紊乱等一系列病症的代谢紊乱综合征，是心血管疾病及其他慢性疾病发生发展的危险因素。Li等[1]研究发现，我国18岁以上的人群MS发病率为24.5%。目前多认为MS是基因、环境及生活方式共同作用的结果，肥胖及遗传因素对其影响最为显著。中心性肥胖既是MS诊断标准之一又是致病因素。中医学有“肥人多痰”理论，本课题组前期研究表明，“痰”是MS易患病性证素，遗传因素影响痰证的病位及兼杂特征[2-4]。肥胖基因（fat mass and obesity associated gene，FTO）是与肥胖相关的“第一基因”，FTO基因单核苷酸多态性（SNPs）不但与肥胖相关，还与代谢紊乱及肥胖引起的相关疾病有关[5-6]，前期研究表明，MS痰证不同证候群中医证素的形成与FTO基因多态性关系密切[7]。为进一步探讨FTO基因对MS痰证形成及中医证素的影响，本研究对FTO基因多态性位点rs9939609与MS痰证病位、病性兼杂规律及理化指标进行相关性研究。……