Study of the association of forkhead box P3 (FOXP3) gene polymorphisms with unexplained recurrent spontaneous abortions in Indian population

Journal of genetics

SHIVANI MISHRA^1¹ 

[1] Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226 014, India^1

关键词: FOXP3 gene;    regulatory T cells;    single-nucleotide polymorphism;    unexplained recurrent spontaneous abortion;   

DOI  :  

学科分类：生物科学（综合）

来源: Indian Academy of Sciences

【 摘 要 】

Recurrent spontaneous abortions (RSA) is defined as three or more consecutive pregnancy losses before 20 weeks of gestation. Various causes of RSA have been identified, still 50% cases remain unexplained after evaluation. One of the causes of unexplained recurrent spontaneous abortions (URSA) is supposed to be the disruption of immunological tolerance at foetaen-dashmaternal interface. Regulatory T cells (Tregs) are responsible for the development of immune-tolerant environment at foetalen-dashmaternal interface and supports pregnancy. Forkhead/winged helix transcription factor (FOXP3) gene plays an important role in the development and function of Tregs. In URSA, Tregs (CD4+CD25+) are reduced in peripheral blood and decidua of pregnant women. This reduction of Tregs (CD4+CD25+) is associated with decreased expression of FOXP3 gene. This study evaluated the association between single-nucleotide polymorphisms (SNPs) in FOXP3 gene and URSA in Indian population. In this study, 100 patients with a history of URSA and 100 healthy ethnically matched women with at least one normal pregnancy and no abortion were included as case and control groups, respectively. Four SNPs of FOXP3 gene, two in the promoter region: −924A/Gand −3279C/A , and two intronic, −20G/Aand +459T/C , were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). −924A/Gand +459T/Cpolymorphisms were found to be associated with URSA. −3279C/Aand−20G/Apolymorphism were not found to be associated with URSA. The odds ratio (OR) of mutant allele G for −924A/Gpolymorphism was 2.5 (95% CI 1.7–3.8; P<0.001 ) and mutant allele C for +459T/Cpolymorphism was 1.7 (95% CI 1.1en-dash2.6; P=0.01 ). For −20G/Apolymorphism, only GG genotype was found in both URSA and controls. These results suggest that −924A/Gand +459T/Cpolymorphisms of the FOXP3 gene might be associated with URSA and −20G/Apolymorphism is likely to be rare in Indian population and might not be associated with URSA.

【 授权许可】

CC BY