Association of the single nucleotide polymorphism C1858T of the PTPN22 gene with unexplained recurrent pregnancy loss: A case-control study.

Khanbarari F; Nasrin Ghasemi; Vakili M; Morteza Samadi

doi:10.18502/ijrm.v19i10.9819

Association of the single nucleotide polymorphism C1858T of the PTPN22 gene with unexplained recurrent pregnancy loss: A case-control study.

Khanbarari F, Nasrin Ghasemi, Vakili M, Morteza Samadi

International journal of reproductive biomedicine · 2021 · doi:10.18502/ijrm.v19i10.9819 · PMID:34805727 · PMC8595908

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⚙ AI-generated summary by gemini-2.5-flash-lite, 2026-07-15 ⓘ

This study compared the frequency of the PTPN22 C1858T polymorphism in women with unexplained recurrent pregnancy loss and controls, finding a significantly higher frequency in the case group.

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⚙ AI-generated deep summary by claude@2026-07, 2026-07-15 · read from full text ⓘ

This case-control study investigated whether the PTPN22 C1858T (R620W) polymorphism is associated with unexplained recurrent pregnancy loss (URPL) by comparing 200 women with at least three unexplained miscarriages before 20 weeks to 200 fertile, non-pregnant controls. Participants were screened to exclude known causes of recurrent miscarriage, spouse semen was analyzed, and genotypes were determined from peripheral leukocyte DNA using PCR-RFLP; chi-square tests assessed allele and genotype frequencies. The T allele (1858T) and 620W variant were significantly more frequent in URPL cases than controls (T allele 16.00% vs 10.75%, p=0.02; 32% vs 21.5%, p=0.01). The paper explicitly notes that functional consequences of the polymorphism remain unresolved, and the analysis does not report adjustments beyond the stated comparisons. Relevance to endometriosis: the authors cite prior studies showing a significant association between PTPN22 R620W and endometriosis, though the main focus of this paper is URPL rather than endometriosis or adenomyosis.

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Abstract

BackgroundLymphoid-tyrosine-phosphatase which is encoded by the protein tyrosine phosphatase non-receptor 22 (PTPN22) gene plays a pivotal role in the regulation of immune responses by dephosphorylating several signaling intermediates of immune cells.ObjectiveSince a balanced immune response has been shown to be important during pregnancy, the purpose of this research was to compare the frequency of the PTPN22 C1858T polymorphism in women with unexplained recurrent pregnancy loss (URPL) vs. in a control group for the first time.Materials and methodsGenomic DNA from 200 individuals with URPL and 200 individuals without URPL (the control group) at the infertility center in Yazd, Iran was isolated using the salting-out method. The PTPN22 C1858T polymorphism of the two groups was analyzed using polymerase chain reaction-restriction fragment length polymorphism. Genotype frequencies in the women with URPL and the fertile control group were compared using the Chi-square test.ResultsThere were significant differences in the frequency of the PTPN22 1858T polymorphism in the URPL individuals vs. the healthy controls, i.e. 32.0% and 21.5%, respectively (p = 0.01).ConclusionOur findings suggest that the PTPN22 1858T polymorphism could play a role in recurrent pregnancy loss. Therefore, genotyping of the mentioned polymorphism can help clinicians to predict the probable risk of URPL.

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We can conclude that PTPN22 1858T could be considered as one of the causes of URPL and targeting of this functional variant can help to diagnose women at risk of recurrent pregnancy loss. Therefore, the results of this study can be helpful in explaining and clarifying one of the possible causes of URPL and for diagnostic purposes.

Coi Statement

The authors declare that there is no conflict of interest.

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