重庆地区汉族人群TRB3基因+251A/G多态性与多囊卵巢综合征的相关性分析

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。

Correlation of TRB3 gene +251A/G polymorphism with polycystic ovarian syndrome:a report of 139 cases in Chongqing Han population

Objective To investigate the genotype distribution of TRB3 exon+251A/G in Han population from Chongqing area,and to explore its correlation with polycystic ovarian syndrome(PCOS),glycolipids metabolism and insulin resistance.Methods A total of 139 PCOS patients and 120 matched normal subjects were genotyped by PCR-restriction fragment length polymorphism(PCR-RFLP).Waist circumference,hip circumference,body mass index,plasma glucose,serum insulin,lipid profiles and total testosterone were measured.In a subgroup of this study,the hyperglycemic clamp technique was performed in 107 PCOS and 20 control subjects to evaluate insulin sensitivity.Results The frequencies of AA,AG and GG genotypes in PCOS group were 62.59%,33.09% and 4.32% respectively,and in comparison with those of control group(60.83%,36.67% and 2.5%),there was no significant difference(Chi-square value=0.88,P=0.64).The allele frequencies also showed no significant difference between the two groups(P=0.99).In PCOS group,the LDL-c and HDL-c of the AG/GG genotype were lower than those of AA genotype(P=0.028,P=0.036,respectively).Conclusion TRB3 gene +251A/G polymorphism has no correlation with PCOS in Han population in Chongqing area,but it may be correlated with dyslipidemia in this population.