scholarly journals Factor V H1299r (Hr2) Heterozygosity: A Risk Factor For Recurrent Implantation Failure Particularly In Non-Carriers For Factor V Leiden Mutation-A Case-Control Study

Author(s):  
A. Seval Ozgu-Erdinc ◽  
Pınar Gulsen Coban ◽  
Nafiye Yilmaz ◽  
Zuhal Candemir ◽  
Saynur Yilmaz ◽  
...  

Objective: The association between recurrent implantation failure and thrombophilia is still controversial depending on the published reports with conflicting results. In this study, we aimed to assess the clinical relevance of screening women with recurrent implantation failure for some thrombophilic variants including factor V H1299R (FV HR2) haplotype. Study Design: A total of 279 women were recruited in this case-control study. 229 women with a history of recurrent implantation failure and 50 fertile control with no history of pregnancy losses were screened for eight specific gene mutations, regarding factor V G1691A gene (FV Leiden), FV HR2, factor II prothrombin G20210A, factor XIII V34L, PAI-1 4G/5G, MTHFR C677T, MTHFR A1298C and A3 haplotype of the endothelial cell protein C receptor gene. Results: Recurrent implantation failure group displayed a significantly higher prevalence of FV HR2 heterozygosity than fertile controls while the frequency of FV Leiden mutation was comparable between groups (p=0.011; p=0.619). Additionally, the difference in the prevalence of other specific or total gene mutations among women with recurrent implantation failure was also insignificant. Discussion: The primer outcome of this study was the co-existence of the higher prevalence of FV HR2 haplotype and the insignificant percentage of FV Leiden mutation in women with recurrent implantation failure. Thus, we emphasize that the HR2 haplotype may be associated with recurrent implantation failure particularly in non-carriers for FV Leiden mutation. In the necessity of screening for thrombophilia in recurrent implantation failure, HR2 haplotype should be involved in the searched gene panel particularly in the absence of FV Leiden mutation. Further large-scale prospective studies are needed to investigate whether screening or treatment for HR2 haplotype has any detrimental impact on implantation success in cases of recurrent implantation failure.

2020 ◽  
Author(s):  
Huanhuan Jiang ◽  
Mengting Zhu ◽  
Peipei Guo ◽  
Kaihuan Bi ◽  
Zhimin Lu ◽  
...  

Abstract Background: Studies have reported that myeloid-derived suppressor cells (MDSCs) contribute to maintain pregnancy. The aim of this case-control study was to test whether there is a dysregulation of peripheral MDSCs in recurrent implantation failure (RIF).Methods: 26 RIF patients and 30 controls were recruited. Flow cytometry was applied to characterize polymorphonuclear (PMN)-MDSCs, monocytic-MDSCs (M-MDSCs), effector T cells (Teffs) and regulatory T cells (Tregs) in blood. ELISA was used to define MDSCs correlative cytokines and chemokines in serum from all patients.Results: Compared with controls, RIF patients showed significant reductions of blood PMN-MDSCs, M-MDSCs, Tregs and NO production by PMN-MDSCs, whereas the expression of ζ chain on CD4+T cell receptor (TCR) and CD8+TCR displayed a remarkable upregulation in RIF patients. Moreover, RIF patients presented a lower concentration of serum chemokine (C-C motif) ligand (CCL) 5 and transforming growth factor (TGF)-β than those from controls. Furthermore, the level of TCR ζ chain on CD4+ and CD8+ Teffs was negatively correlated not only with the percentage of PMN-MDSCs, but also with the amount of NO produced by PMN-MDSCs. The frequency of PMN-MDSCs had positive correlations with the concentration of CCL5 and TGF-β.Conclusions: This study indicated that the dysregulation of MDSCs might impair maternal-fetal immune balance thus resulting in RIF.


Author(s):  
Rand Sulaiman ◽  
Thara Mohamad ◽  
Marwan Alhalabi

Background: Implantation appears to be the major rate-limiting step in assisted reproductive techniques success. Recurrent implantation failure (RIF) is a common condition, being the failure to achieve a clinical pregnancy after transfer of four or more good-quality embryos in a minimum of two IVF cycles in a woman under the age of 40. Human leukocyte antigen G (HLA-G) is thought to play a key role in implantation by modulating cytokine secretion to enable the semi-allogeneic embryo to implant into the maternal endometrium. The aim of this study was to investigate the association between the 14-bp ins/del HLA-G polymorphism and rates of RIF. No similar studies were conducted nationally or regionally.Methods: The study was designed as a case-control study. A proportion of 30 patients with RIF were selected as the experimental group. The control group included 15 patients with at least one pregnancy following IVF procedure. Peripheral blood samples were collected from both groups. DNA was extracted and the polymorphism analysis was performed using (AMPLI - HLA-G polymorphism) kit, then PCR products were electrophoresed on 2% agarose gel. statistical analysis was performed using SPSS statistics software.Results: A total of 45 middle-eastern patients were recruited in this case-control study. High frequency of the polymorphism was found in both case (76.6%) and control (86.67%) groups, but with no significant difference between the two groups (p=0.429).Conclusions: There is no correlation between the 14-bp ins/del HLA-G polymorphism and RIF, thus it may be considered as a normal polymorphism and might not affect the level of HLA-G.


1998 ◽  
Vol 245 (10) ◽  
pp. 653-658 ◽  
Author(s):  
D. G. Nabavi ◽  
Ralf Junker ◽  
Endrik Wolff ◽  
Peter Lüdemann ◽  
Christopher Doherty ◽  
...  

2021 ◽  
Author(s):  
Samira Ghorbani ◽  
Khadijeh Hekmat ◽  
Parvin Abedi ◽  
Saeed Ghanbari ◽  
Narjes Dibavand

Abstract Background Recurrent implantation failure affects 3–5% of women, which means failing to implant after two or more high-quality embryo transfer cycles. The aim of this study was to assess the relationship between recurrent implantation failure and sexual function in infertile Iranian women. Methods This was a case-control study of 180 infertile Iranian women (90 infertile women with recurrent implantation failure and 90 infertile women with no implantation failure). A demographic questionnaire and the Female Sexual Function Index were used for data collection. Data analyzed by means of chi-square, independent t-test and linear regression. Results The mean scores of different domains of sexual function including (desire, lubrication, arousal, orgasm, pain, satisfaction) were significantly lower in the group with RIF compared to the group without RIF. The total score of sexual function was significantly lower in the RIF group than in the RIF-free group (23.11 ± 2.24, vs. 25.99 ± 2.35, p < 0.001). Women in the RIF group were 2.65 times more likely to have a low score of sexual function compared to the women with no RIF (p < 0.001). Conclusion Women experiencing recurrent implantation failure may be at particular risk for reduced sexual function. Sexual function issues should be treated as an important component of comprehensive care.


2011 ◽  
Vol 30 (1) ◽  
pp. 51-54
Author(s):  
Iva Salatić ◽  
Katarina Kiralj ◽  
Gorana Mitić ◽  
Igor Veselinović ◽  
Dušan Vapa

FV Leiden Mutation and Deep Venous Thrombosis in Vojvodina: A Case-Control StudyBetween September 2007 and February 2010, the occurrence of symptomatic deep venous thrombosis (DVT) was investigated in a cohort of 79 consecutive patients. A case-control study inclu ded 71 healthy controls matched with cases for sex and age. The prevalence of factor V G1691A mutation genotype was analyzed. Eighteen cases (22.79%; 95% confidence interval (CI) 13.53% to 32.03%) and four controls (5.63%; 95% CI 0.27% to 10.99%) were heterozygous carriers of FV Leiden (p= 0.025). The odds ratio for DVT was 4.94 (95% CI 1.58 to 15.42) and the relative risk 4.04 (95% CI 1.44-11.38) compared with FV 1691G carriers. Four cases were homozygous carriers of FV Leiden, giving a prevalence of 5.06% (95% CI 0.23 to 9.89%) and no controls, therefore OR and RR calculation was based on the prevalence of homozygotes in the general Caucasian population. The OR for DVT was 47.28 (95% CI 0.04 - 52167.3) and the RR 45.57 (95% CI 0.04 to 49540.77; p=0.025) compared with FV 1691 G carriers. Our study confirms that factor V Leiden carriers in Vojvodina, as in similar studies previously carried out in other populations, have an increased risk of developing DVT. The evaluated risk of DVT in heterozygous carriers of the mutation is four- to five-fold higher, whereas for homozygous carriers it is 45- to 48-fold higher than in non-carriers. These results confirm that patients with DVT and their relatives should undergo screening for FV Leiden mutation.


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