CAJ | 학술논문

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MassARRAY-IPLEX技术和基质辅助激光解吸电离飞行时间质谱平台(matrix-assisted laser desorption/ionization time of flight mass spectrometry,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 =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,OR=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=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.
목적 탐토FOXP3기인단핵감산다태성여화중지구한족부녀자궁내막이위증발병적상관성.방법 응용MassARRAY-IPLEX기술화기질보조격광해흡전리비행시간질보평태(matrix-assisted laser desorption/ionization time of flight mass spectrometry,MALDI-TOF-MS)대314례자궁내막이위증(간칭내이증,endometriosis,EMs)환자화358명정상대조진행FOXP3기인분형.결과 내이증조화대조조rs2280883위점존재C/T다태성,rs3761548존재A/C다태성,rs3761549존재C/T다태성.여대조조상비,내이증조rs2280883,rs3761549적삼충기인형CC,CT,TT분포(P=0.770,OR=0.960;P=0.923,OR=1.013)화등위기인C,T빈솔(P=0.772,OR =0.960；P=0.925,OR=1.013)차이균무통계학의의；동시,위점rs3761548적3충기인형AA,AC,CC분포(P=0.762,OR=0.958)화등위기인A,C빈솔(P=0.715,OR=0.950)재내이증조화대조조간적차이역무통계학의의.안조r-AFS분기,장내이증조분성Ⅰ-Ⅱ기화Ⅲ-Ⅳ기.재내이증Ⅰ-Ⅱ기화내이증Ⅲ-Ⅳ기환자중,rs2280883,rs3761549기인형CC,CT,TT분포(P=0.454,OR=1.198,P=0.526,OR=0.909;P=0.220,OR=0.750,P=0.548,OR=1.094)화등위기인C,T분포(P=0.473,OR=1.215,P=0.532,OR=0.912;P=0.204,OR=0.737,P=0.558,OR=1.089),분별여대조조비차이무통계학의의.동양,rs3761548위점3충기인형AA,AC,CC(P=0.431,OR=1.211;P=0.508,OR=0.905)화등위기인A,C(P=0.417,OR=1.226;P=0.516,OR=0.908)분별재내이증량충분기환자중적분포여대조조상비차이무통계학의의.결론 FOXP3기인적rs2280883、rs3761548화rs3761549위점적다태성가능여화중지구부녀자궁내막이위증발병풍험급내이증엄중정도무관.
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 patients were divided into two groups (respectively with Ⅰ-Ⅱ stage 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=0.909; P=0.220,OR=0.750,P=0.548,OR=1.094) 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=1.226; 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.