Polymorphic Variants of FOXP3 Gene (rs 3761548) and (rs 3761549) are Significantly Associated with the Risk for Recurrent Pregnancy Losses A Study in High Incidence Zone (Kashmir, North India) #MMPMID41346162
J Mother Child 2025[Feb]; 29 (1): 219-226 PMID41346162show ga
OBJECTIVE: Recurrent Pregnancy Loss (RPL) is a significant pregnancy complication with a multifactorial aetiology and is a vital reproductive health concern that globally affects 2-5% of women. Polymorphic gene variation causes alteration in FOXP3 gene that impairs the Treg cells which leads to complications in pregnancy outcome. Thus, we aimed to study an association between FOXP3 polymorphic variations (rs3761548 and rs3761549) and RPL. MATERIAL AND METHODS: This case control study comprised of 120 RPL cases and 150 healthy multiparous women as control group with at least one full term pregnancy and no history of pregnancy loss matched to cases according to age and geographic origins. Genotyping for FOXP3 was analyzed by polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP). RESULTS: Significantly higher frequency of FOXP3 -3279 C/A (rs 3761548)heterozygous AC and homozygous AA was found in RPL cases than controls (63.3% vs. 46%, O.R = 2.53): p = 0.0006 and (11.7% vs. 8%; O.R 2.68): p = 0.03 respectively. Moreover, the dominant model (AC +AA) and allele A were seen implicated more in RPL cases vs. healthy control (75% vs. 54%; O.R = 2.5): p = 0.0005 and (43.3% vs. 31%; O.R = 1.7): p = 0.003. For FOXP3 -2383 C/T (rs 3761548), homozygous genotype TT was significantly higher in RPL cases than the control group against the wild type CC genotype with O. R= 3.49 (p = 0.04). Further, FOXP3 (rs 3761548) genotypes AC+AA were significantly associated between cases and control in terms of women without any known family history (p = 0.0009) and consanguinity (p = 0.0002), respectively. CONCLUSION: The study concludes that both the variants of FOXP3 gene, C/A (-3279) and C/T (-2383) are significantly associated with an increased risk for recurrent pregnancy losses.
J+Mother+Child 2025 ; 29 (1): 219-226
