Table of Contents Author Guidelines Submit a Manuscript
Clinical and Developmental Immunology
Volume 2012, Article ID 896458, 7 pages
Clinical Study

Association between Functional Polymorphisms of Foxp3 Gene and the Occurrence of Unexplained Recurrent Spontaneous Abortion in a Chinese Han Population

1Department of Obstetrics and Gynecology, the First Affiliated Hospital of Medical College, Sun Yat-Sen University, Guangzhou 510080, Guangdong, China
2Department of Obstetrics and Gynecology, People's Hospital of Chaozhou city, Chaozhou 515600, Guangdong, China
3Center of Stem Cell Biology and Tissue Engineering, Sun Yat-sen University, Guangzhou 510080, Guangdong, China

Received 8 April 2011; Revised 20 May 2011; Accepted 22 June 2011

Academic Editor: Raivo Uibo

Copyright © 2012 Zaigui Wu et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Unexplained recurrent spontaneous abortion (URSA) is an alloimmune disease associated with the failure of fetal-maternal immunologic tolerance in which the regulatory T lymphocytes (Treg) play a pivotal role. It is well known that Forkhead box P3 (Foxp3) is a crucial regulatory factor for the development and function of Treg cells. It has also been established that deficiency of the Foxp3 gene suppresses the regulatory function of Treg cells. To determine if functional polymorphisms at the Foxp3 loci are associated with URSA in humans, we genotyped four common polymorphisms of Foxp3 gene in 146 unrelated URSA patients and 112 healthy women. The results showed that rs3761548A/C and rs2232365A/G polymorphisms were significantly associated with URSA. Additionally, we found that the allelic distribution of rs5902434 del/ATT in URSA group was slightly different from that in the control group. We conclude that functional polymorphisms of the Foxp3 gene may confer an important susceptibility to URSA in the Chinese Han population, probably by altering Foxp3 function and/or its expression.