胰岛素受体基因酪氨酸激酶区单核苷酸多态性与多囊卵巢综合征的相关性

摘要

目的：探讨胰岛素受体基因酪氨酸激酶区单核苷酸多态性与多囊卵巢综合征（PCOS）的关系。方法采用聚合酶链反应-限制性片段多态性技术（PCR-RFLP）以及PCR产物直接测序法对96例PCOS患者（PCOS组）和48例健康妇女（对照组）的胰岛素受体基因中3个单核苷酸位点（＋168715 C＞T、＋176506 C＞T和＋176525 G＞A）进行序列分析。结果 PCOS组的胰岛素受体基因 Exon17的＋168715 C＞T的多态性出现频率明显高于对照组（63．5％vs．45．8％，P＝0．043），而且在非肥胖亚组中差异更明显（P＝0．039）；两组研究对象在距离 INSR-Exon22前端85 bp和56 bp处存在＋176506 C＞T和＋176525 G＞A的多态性，两位点多态性出现频率相同，而且PCOS组多态性出现频率亦高于对照组（64．6％vs．47．9％），但差异无统计学意义（P＝0．055）。进一步分组比较发现在PCOS非肥胖亚组中两位点多态性出现频率高于对照组（P＝0．042）。结论胰岛素受体基因中＋168715 C＞T、＋176506 C＞T和＋176525 G＞A的多态性可能与PCOS非肥胖型患者的发病有关。%Objective To investigate the relation between single nucleotide polymorphism (SNPs)in the tyrosine kinase domain of the insulin receptor gene (INSR)and polycystic ovary syndrome (PCOS).Methods The loci of 3 single nucleotides (+168715 C>T,+176506 C>T and +176525 G>A)in 96 patients with PCOS (PCOS group)and 48 normal women(control group)were performed the sequence analysis by the polymerase chain reaction restriction fragment polymorphism(PCR-RFLP)technology and the PCR product direct sequencing method.Results The polymorphism frequency of+168715 C>T in exon 17 of the INSR in the PCOS group was 63.5%,which was significantly higher than 45.8% in the control (P=0.043),the difference in the non-obese subgroup was more significant(P=0.039).There was polymorphism of+176506 C>T and+176525 G>A at the front 85bp and 56bp of exon 22 of INSR in the two groups.The polymorphism frequency in these two loci were same,but the polymorphism fre-quency in the PCOS group was 64.6%,which was higher than 47.9% in control group without statistical significance(P=0.055). The further grouping comparison found that the polymorphism frequency of two loci in the non-obese subgroup of PCOS patients was significantly higher than that in the control group(P=0.042).Conclusion The SNPs of+168715 C>T,+176506 C>T and+176525 G>A in INSR is possibly correlated with the PCOS pathogenesis,especially the morbidity of the non-obese patients.