Results
| PMID | 23450493 |
| Gene Name | FOXP3 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | FOXP3 (rs2280883, rs3761548 and rs3761549) |
| Population size | 672 |
| Population details | 672 (314 patients with endometriosis, 358 healthy controls) |
| Sex | Female |
| Associated genes | FOXP3 |
| Other associated phenotypes |
Endometriosis |
|
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Feb;30(1):106-10. doi: Wu, Zhang-ying| Wang, Wen-wen| Wang, Tian| Yang, Run-feng| Li, Yan| Li, Tian| Wang, Shi-xuan Department of Obstetrics and Gynecology, Huazhong University of Science and Technology, Wuhan, Hubei, People's Republic of China. 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. Mesh Terms: Adolescent| Adult| Alleles| Asian Continental Ancestry Group/genetics| Case-Control Studies| China| Endometriosis/*genetics| Female| Forkhead Transcription Factors/*genetics| Gene Frequency| *Genetic Predisposition to Disease| Genotype| Humans |
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