[Association of FOXP3 gene polymorphism in Chinese women with endometriosis]

Zhaohua Wu, Wu ZY, Zhang-ying Wu, Wang WW, Wen-wen Wang, Tian Wang, Wang T, Run-feng Yang, Runfeng Yang, Yang RF, Li Y, Yan Li, Li T, Li Tian, Tian Li, Wang SX, Shixuan Wang, Shi-xuan Wang
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2013 · vol. 30(1) , pp. 106–10 · doi:10.3760/cma.j.issn.1003-9406.2013.01.026 · PMID:23450493 · W2229573275
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This study found no association between FOXP3 gene polymorphisms rs2280883, rs3761548, and rs3761549 and endometriosis in Chinese Han women.

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This study investigated the association between single nucleotide polymorphisms in the FOXP3 gene and endometriosis among Chinese Han women from central China. Researchers utilized mass spectrometry techniques to genotype 314 patients with endometriosis and 358 healthy controls, focusing on specific loci including rs2280883, rs3761548, and rs3761549. The analysis revealed no statistically significant differences in genotype or allele distributions between the patient group and the control group, nor was there any correlation observed when stratifying patients by disease severity using the r-AFS staging system. Consequently, the authors concluded that these particular FOXP3 gene variants are not associated with the risk or severity of endometriosis in this population. This paper is centrally about endometriosis, specifically examining genetic susceptibility factors through a case-control design.

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Abstract

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 genotypes 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.
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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. 更多相关知识 abstractsObjective 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. More相关知识 - 浏览0 - 被引5 - 下载0 相似文献 - 中文期刊 - 外文期刊 - 学位论文 - 会议论文

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endometriosis

MeSH descriptors

Endometriosis Forkhead Transcription Factors Genetic Predisposition to Disease Genetic Predisposition to Disease Polymorphism, Single Nucleotide Polymorphism, Single Nucleotide Adolescent Adolescent Adult Adult Alleles Alleles Asian People Asian People Asian People Case-Control Studies Case-Control Studies China China Endometriosis

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