摘要
目的探讨FOXP3基因单核苷酸多态性与华中地区汉族妇女子宫内膜异位症发病的相关性。方法应用MassARRAVIPLEx技术和基质辅助激光解吸电离飞行时间质谱平台（matrix-assistedlaserdesorption／ionizationtimeofflightmassspectrometry，MALDI-TOF-MS）对314例子宫内膜异位症（简称内异症，endometriosis，EMs）患者和358名正常对照进行FOXP3基因分型。结果内异症组和对照组rs2280883位点存在C／T多态性，rs3761548存在A／C多态性，rs3761549存在C／T多态性。与对照组相比，内异症组rs2280883，rs3761549的三种基因型CC，CT，TT分布（P=0．770，OR=0．960；P=0．923，OR：1．013）和等位基因C，T频率（P=0．772，OR一0．960；P=0．925，OR：1．013）差异均无统计学意义；同时，位点rs3761548的3种基因型AA，AC，CC分布（P=0．762，OR=0．958）和等位基因A，C频率（P=0．715，OR=0．950）在内异症组和对照组间的差异亦无统计学意义。按照r-AFS分期，将内异症组分成I-Ⅱ期和Ⅲ～Ⅳ期。在内异症I-Ⅱ期和内异症Ⅲ-Ⅳ期患者中，rs2280883，rs3761549基因型CC，CT，TT分布（P=0．454，OR：1．198，P=0．526，OR=0．909；P=0．220，OR=0．750，P=0．548，0R：1．094）和等位基因c，T分布（P=0．473，OR=1．215，P=0．532，OR=0．912；P=0．204，OR=0．737，P=0．558，OR=1．089），分别与对照组比差异无统计学意义。同样，rs3761548位点3种基因型AA，AC，CC（P=0．431，OR=1．211；P=0．508，OR=0．905）和等位基因A，C（P=0．417，OR=1．226；P一0．516，OR=0．908）分别在内异症两种分期患者中的分布与对照组相比差异无统计学意义。结论FOXP3基因的rs2280883、rs3761548和rs3761549位点的多态性可能与华中地区妇女子宫内膜异位症发病风险及内异症严重程度无关。
Objective To assess the association between single nucleotide polymorphisms （SNPs） of forkhead box P3 gene （FOXP3）and endometriosis in Chinese Han women from central China. Methods MassARRAY-IPLEX and matrix-assisted laser desorption/ionization time of flight mass spectrometry （MALDI-TOF-MS） technique was used to determine the genotypes of FOXP3 gene in 314 patients with endometriosis and 358 healthy controls. Results Genotypes of C/T polymorphism for the rs2280883 locus, A/C for the rs3761548 locus, and C/T for the rs3761549 locus were determined. No significant difference was detected in distribution of genotypes CC, CT and TT （P=0. 770, OR=0. 960; P=0. 923, OR= 1. 013） and frequencies of C and T alleles （P=0. 772, OR=0. 960; P=0. 925, OR=1. 013） for rs2280883 and rs3761549 between the two groups. And no significant difference was detected in distribution of genotypes AA, AC and CC （P=0. 762, OR=0. 958） and frequencies of A and C alleles （P=0. 715, OR= 0. 950） for rs3761548 was detected between the two groups. Based on r-AFS classification, the patientswere divided into two groups （respectively with I-Ⅱstage and Ⅲ-Ⅳ stage endometriosis）. Again, no significant difference was detected in distribution of genotypes CC, CT and TT （P=0. 454, OR= 1. 198, P=0.526, OR=O. 909; P=0. 220, OR=0. 750, P=0. 548, OR=I. 094） and frequencies of C and T alleles （P=0. 473, OR=1. 215, P=0. 532, OR=0. 912; P=0. 204, OR=0. 737, P=0. 558, OR=1. 089） for rs22080883 and rs3761549 loci between the two patient groups. No association was found between distribution of genotype AA, AC and CC （P=0. 431, OR= 1. 211 ; P=0. 508, OR=0. 905） and frequencies of A and C alleles （P=0. 417, OR=I. 226; P=0. 516, OR=0. 908） for rs3761548 locus between the two patient groups. Conclusion Our study has failed to found any association between FOXP3 gene polymorphisms rs2280883, rs3761548 and rs3761549 with endometriosis in Chinese Han patients.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2013年第1期106-110,共5页
Chinese Journal of Medical Genetics
基金
国家青年科学基金项目（81000240）,湖北省科技计划重点基金（2010CDA044）
