瘦素与肿瘤坏死因子α基因多态性与多囊卵巢综合征发病相关性研究  

Association study of genetic polymorphisms in LEP and TNFα genes with the pathogenesis of polycystic ovary syndrome

作　　者：张静[1] 刘旗[2] 

机构地区：[1]温州医学院附属温岭医院(浙江省温岭市第一人民医院检验科),浙江温岭317500 [2]浙江省肿瘤医院,杭州310022

出　　处：《中国卫生检验杂志》2010年第12期3272-3274,共3页Chinese Journal of Health Laboratory Technology

摘　　要：目的:考察瘦素基因(leptin,LEP)5′非编码区中C-2549A,G19A与肿瘤坏死因子α(tumor necrosis factorα,TNFα)基因启动子区域内G-376A、G-308A、G-238A、G-163A单核苷酸多态性(SNPs)与多囊卵巢综合征(polycysticovary syndrome,PCOS)发病的相关性。方法:收集78例PCOS患者(肥胖PCOS患者50例,非肥胖PCOS患者28例)及健康对照组40例血样标本,提取基因组DNA。针对LEP及TNFα基因SNPs,优化引物、探针并制备基因多态性检测芯片。利用该基因芯片检测3组受检者基因组DNA中LEP及TNFα基因的SNP并进行统计分析。结果:在受检者中检测肿出瘤坏死因子α基因多态性,多态性位点G-376A、G-163A检测全部为野生型G/G,多态性位点G-308A与G-238A检测到杂合型突变子G/A,未见纯合型突变子A/A;G-308A杂合突变子G/A发生频率在肥胖PCOS发病患者组12.0%与非肥胖PCOS发病患者组0.0%和正常对照组10.0%无显著性差异;G-238A杂合突变子G/A发生频率在肥胖PCOS发病患者组16.O%与非肥胖PCOS发病患者组7.1%和正常对照组15.0%无显著性差异。在受检者中检测到瘦素基冈C-2549A,G19A两个多态性位点的野生型、杂合突变型及纯合突变型三种基因型。瘦素基因G-2549A位点突变基因型发生频率在肥胖PCOS发病患者组为8.0%,非肥胖PCOS发病患者组为7.1%,正常对照组为10.0%,差别无统计学意义;G19A位点突变基因型的发生频率在肥胖PCOS发病患者组52.0%,非肥胖PCOS发病患者组为21.4%,正常对照组为20.0%,差别有统计学意义(P<0.05)。结论:瘦素基因G19A单核苷酸多态性可能与肥胖PCOS发病患者存在相关性。Objective：To investigate the association of single nucleotide polymorphisms（SNPs） of C-2549A,G19A in the 5′ non-coding region of leptin（LEP） and G-376A,G-308A,G-238A,G-163 A in the coding region of tumor necrosis factor α（TNF-α） with the pathogenesis of polycystic ovary syndrome（PCOS）.Methods：Blood specimens were collected from 78 Zhejiang Chinese women with PCOS（50 were obese,and 28 nonobese）,and 40 normal volunteers.Genomic DNA was extracted.The primers and probes for genotyping the SNPs were optimized and an oligonucleotide microarrays were prepared.The SNPs of the LEP and TNF a gene in DNA specimens of the above 3 groups were genotyped and statistically analyzed.Results：The 4 SNPs of TNFα were detected in the subjects.The polymorphic sites of G-376A and G-163A were all wild type G/G.Heterozygous mutant G/A but no homozygous A/A were detected in G-308A and G-238A;the incidence of heterozygous mutant G/A of G-308A were of no significant difference in obese PCOS（12.0%） than nonobese PCOS（0.0%）and normal volunteers（10.0%）,the incidence of heterozygous mutant G/A of G-238A were of no significant difference in obese PCOS（16.0%）than nonobese PCOS（7.1%）and normal volunteers（15.0%）.The wild type,heterozygous and homozygous mutants of C-2549A and G19A of LEP were detected in the subjects.The incidence of mutant base of C-2549A were of no significant difference in obese PCOS（8.0%）than nonobese PCOS（7.1%）and normal volunteers（10.0%）,whereas the incidence of mutant base of G 19A was significantly higher（p0.05）in obese PCOS（52.0%）than nonobese PCOS（21.4%）and normal volunteers（20.0%）.Conclusion：It is indicated that the mutant base of 19A in LEP associates with the pathogenesis of PCOS.

关 键 词：瘦素基因 肿瘤坏死因子Α 多囊卵巢综合征 

分 类 号：R711.75[医药卫生—妇产科学]