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目的了解中国重庆地区汉族人群TRB3基因外显子+251A/G的基因型分布,探讨该基因多态性与多囊卵巢综合征(PCOS)及其糖脂代谢、胰岛素抵抗等的相关性。方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法对139例PCOS患者和120例正常对照者TRB3基因第2外显子+251A/G位点进行基因分型,同时进行人体测量学及代谢指标的检测,并对其中的107例PCOS患者和20例正常对照行高胰岛素-正葡萄糖钳夹实验。结果 TRB3基因+251A/G多态性位点的3种基因型AA、AG、GG频率在PCOS组中分别为62.59%、33.09%、4.32%,与对照组(60.83%、36.67%、2.5%)相比,差异无统计学意义(χ2=0.88,P=0.64)。PCOS组和对照组等位基因频率分布差异亦无统计学意义(P=0.99)。PCOS组AG/GG基因型的LDL-c和HDL-c水平明显低于AA基因型(P=0.028,P=0.036)。结论 TRB3基因+251A/G多态性与重庆地区汉族人群多囊卵巢综合征的发生无关,但可能与PCOS患者血脂代谢紊乱有关。
Objective To investigate the genotype distribution of exon 251A / G of TRB3 gene in Han population in Chongqing, China and to explore the correlation between the polymorphism of the gene and PCOS, glucose and lipid metabolism, insulin resistance and so on. Methods Genotypes of exon 2 + 251A / G of TRB3 gene in 139 PCOS patients and 120 healthy controls were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) The anthropometric and metabolic parameters were measured, and 107 patients with PCOS and 20 normal controls were treated with insulin-plus-glucose clamp. Results The frequency of AA, AG and GG genotypes in the + 251A / G polymorphism loci of TRB3 gene were 62.59%, 33.09% and 4.32% in the PCOS group respectively, which were significantly higher than those in the control group (60.83%, 36.67%, 2.5% ), The difference was not statistically significant (χ2 = 0.88, P = 0.64). PCOS group and control group allele frequency distribution difference was not statistically significant (P = 0.99). The LDL-c and HDL-c levels of AG / GG genotype in PCOS group were significantly lower than those in AA genotype (P = 0.028, P = 0.036). Conclusion The + 251A / G polymorphism of TRB3 gene is not related to the occurrence of PCOS in Chongqing Han population, but may be related to the disorder of lipid metabolism in PCOS patients.