scholarly journals Study of the Association between microRNA (miR-25T>C, miR-32C>A, miR-125C>T, and miR-222G>T) Polymorphisms and the Risk of Recurrent Pregnancy Loss in Korean Women

Genes ◽  
2020 ◽  
Vol 11 (4) ◽  
pp. 354 ◽  
Author(s):  
Jeong Yong Lee ◽  
Jung Oh Kim ◽  
Han Sung Park ◽  
Chang Soo Ryu ◽  
Ji Hyang Kim ◽  
...  

Recurrent pregnancy loss (RPL), which is defined as two pregnancy losses that occur before 20 weeks of gestation, is relatively common, occurring in approximately 1–5% of women. The underlying cause is often unclear, although numerous factors may contribute to RPL, including environmental and immunological factors, blood coagulation disorders, and genetics. In particular, single nucleotide variants have been associated with RPL, including those found in microRNAs (miRNAs). We investigated the association between four miRNA polymorphisms, miR-25T>C, miR-32C>A, miR-125aC>T, and miR-222G>T, and RPL in a cohort consisting of 361 RPL patients and 272 controls. Subjects were genotyped at miRNA loci by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis, and genotype frequencies were calculated. We then performed allele and genotype combination analyses and measured the association between miRNA polymorphisms and clinical variables in both RPL patients and controls. We detected a statistically significant association between RPL and the miR-25T/miR-32C/miR-125aT/miR-222T allele combination (adjusted odds ratio (AOR), 4.361; 95% confidence interval (CI), 1.496–12.72; P = 0.003). Three-gene combinations, including miR-32C/miR-125aT/miR-222T (AOR, 3.085; 95% CI, 1.254–7.588; P = 0.010) and miR-25T/miR-125aT/miR-222T (AOR, 2.929; 95% CI, 1.183–7.257; P = 0.015), and the two-gene combination miR-125aT/miR-222T (AOR, 2.417; 95% CI, 1.084–5.386; P = 0.026) were also associated with RPL. Analysis of variance (ANOVA) revealed that platelet counts and blood urea nitrogen levels were significantly different in RPL patients expressing different miR-125aC>T and miR-25T>C genotypes, respectively (P < 0.05). In addition, creatinine levels were lower in RPL patients expressing the minor alleles miR-25T>C and miR-32C>A. We investigated miRNAs (miR-25, miR-32, miR-125a, miR-222) in RPL patients and healthy controls. Significantly different allele frequencies were detected by ANOVA. We suggest that miRNAs and clinical factors can impact RPL occurrence.

Genes ◽  
2020 ◽  
Vol 11 (8) ◽  
pp. 862
Author(s):  
Hui Jeong An ◽  
Eun Hee Ahn ◽  
Jung Oh Kim ◽  
Chang Soo Ryu ◽  
Han Sung Park ◽  
...  

This paper investigates whether glycoprotein 6 (GP6) gene polymorphisms are a risk factor for recurrent pregnancy loss (RPL) in Korean women. Genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism and real-time polymerase chain reaction amplification. We identified five polymorphisms in the GP6 gene: rs1654410 T>C, rs1671153 T>G, rs1654419 G>A, rs12610286 A>G, and rs1654431 G>A. GP6 rs1654410 CC was associated with decreased RPL risk (adjusted odds ratio = 0.292, 95% confidence interval = 0.105–0.815, p = 0.019), and recessive genotypes were also significantly associated with decreased RPL risk (adjusted odds ratio = 0.348, 95% confidence interval = 0.128−0.944, p = 0.038). GP6 rs1654419 GA was associated with decreased RPL risk (adjusted odds ratio = 0.607, 95% confidence interval = 0.375-0.982, p = 0.042), and dominant genotypes were significantly associated with decreased RPL risk (adjusted odds ratio = 0.563, 95% confidence interval = 0.358−0.885, p = 0.013). Altogether, the genotype frequencies of GP6 rs1654410 T>C and GP6 rs1654419 G>A were significantly different between RPL patients and control participants. Therefore, although GP6 polymorphisms may be useful as biomarkers of RPL, additional studies with heterogeneous cohorts are required to better understand the influence of GP6 and assess its performance as a biomarker.


Genes ◽  
2019 ◽  
Vol 10 (5) ◽  
pp. 347 ◽  
Author(s):  
Han Sung Park ◽  
Ki Han Ko ◽  
Jung Oh Kim ◽  
Hui Jeong An ◽  
Young Ran Kim ◽  
...  

Recurrent pregnancy loss (RPL) refers to two or more consecutive pregnancy losses. It is estimated that fewer than 5% of women experience RPL. Matrix metalloproteinases (MMPs) are a family of proteolytic enzymes that play important roles in providing a safe and conducive environment for the stable development of the fetus. In this case-control study, we evaluated the associations between RPL and single nucleotide polymorphisms (SNPs) in MMP-8 and MMP-27. We recruited 375 Korean women with a history of RPL and 240 ethnically-matched healthy parous controls, and we performed genotyping for the MMP-8 rs2509013 C>T, MMP-8 rs11225395 G>A, and MMP-27 rs3809017 T>C polymorphisms. All SNPs were genotyped via the polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) assay. In the genotype frequency analyses, the TT genotype of the MMP-8 rs2509013 C>T (age-adjusted odds ratio, 0.415; 95% confidence interval, 0.257–0.671; P = 0.0003) and TC genotype of MMP-27 rs3809017 T>C (age-adjusted odds ratio, 0.681; 95% confidence interval, 0.483–0.961; P = 0.029) were associated with decreased RPL susceptibility. Moreover, these trends were maintained in the haplotype and genotype combination analyses. Interestingly, amongst the RPL patients, higher levels of homocysteine (P = 0.042) and uric acid (P = 0.046) were associated with MMP-27 rs3809017 T>C. In conclusion, the two polymorphisms of MMP-8 and MMP-27 were significantly associated with RPL risk, both individually and in combination. Therefore, these two polymorphisms are potential biomarkers for RPL susceptibility.


Author(s):  
Abha Singh ◽  
Avinashi Kujur ◽  
Kalpana Rathore

Background: This study was aimed to know the demographic profile and categorizes the causes of RPL.Methods: This observational study was carried out in the department of obstetrics and gynecology, Pt. J.N.M. Medical College Raipur from Nov 2015-Sept 2016. Total 100 women were evaluated with history of RPL.Results: 100 women were recruited in our study. The incidence of primary RPL was more than secondary RPL. 48 % women had first trimester abortions. The identifiable causes accounted for 53% out of which anatomical defects were the commonest .Next were endocrinal factors (20%), and Genetic factors (1%),Immunological factors 7%., Medical causes were 3%. However, 47% were unexplained.Conclusions: Despite innumerable investigations, sometimes or rather most of the times, the etiology remains obscure. It is this group of women who become a challenge to manage. Ultimately, most effective therapy for women with unexplained RPL is antenatal counseling, psychological support and tender loving care.


2013 ◽  
Vol 2013 ◽  
pp. 1-5 ◽  
Author(s):  
S. A. Zavaleta-Muñiz ◽  
B. T. Martín-Márquez ◽  
L. Gonzalez-Lopez ◽  
N. G. Gonzalez-Montoya ◽  
M. L. Díaz-Toscano ◽  
...  

Objective. There is a lack of information about the genotype frequencies of IL-6 −174G/C and −572G/C polymorphisms in Mexicans with rheumatoid arthritis (RA). Therefore, the aim of this study was to evaluate the association of the IL-6 −174G/C and −572G/C polymorphisms in Mexican mestizo with RA.Methods. We included 137 patients with RA and 102 healthy controls. Patients were assessed for clinical characteristics. IL-6 −174G/C and −572G/C polymorphisms were genotyped using PCR-RFLP analysis. Allele and genotype frequencies and the Hardy-Weinberg equilibrium were computed. Odds ratios (ORs) were computed to identify the risk for RA associated with the presence of GG genotype in comparison with the GC or CC genotypes.Results. The genotype −174GG occurred at a higher frequency in cases and controls (77.4% versus 78.4%,P=0.845). We found similar results for the genotype −572GG (54% in patients versus 60.8% in controls,P=0.295).Conclusions. This is the first study to evaluate the association of −174G/C and −572G/C polymorphisms of the IL-6 gene with RA in Mexican mestizo patients. These two polymorphisms were not associated with RA in the studied sample. Additional studies are required to evaluate if these IL-6 polymorphisms have relevance to the development of more severe disease.


2021 ◽  
Author(s):  
Violeta Fodina ◽  
Alesja Dudorova ◽  
Juris Erenpreiss

Recurrent pregnancy loss (RPL) and recurrent implantation failure (RIF) are serious problems in IVF and ICSI cycles. Different factors are showed to be responsible for these clinical challenges – such as paternal, maternal, embryonic, immunological, infectious, hormonal, and others. In this chapter we have tried to review the available data on reasons for the RIF, and systematize them into: 1) uterine factors; 2) embryo factors; 3) immunological factors; 4) other factors. Interplay between all these factors play a role in RIF, and further investigations are needed to elucidate their significance and interactions – in order to elaborate more definite suggestions or guidelines for the clinicians dealing with artificial reproductive techniques and facing RPL and RIF.


1998 ◽  
Vol 79 (05) ◽  
pp. 924-927 ◽  
Author(s):  
Tatsuya Atsumi ◽  
Rafael Caliz ◽  
Olga Amengual ◽  
Munther A. Khamashta ◽  
Graham R. V. Hughes

SummaryA role for Fcγ receptor in the pathophysiology of thrombosis in APS has been hypothesized. The polymorphism of this receptor, FcγRIIA H/R131, is associated with the binding affinity for human IgG2 (i.e. FcγRIIA-H131 isoform has a higher affinity than FcγRIIA-R131). Since anti-β2 glycoprotein I antibodies (anti β2GPI), which play a major pathogenic role in APS, show IgG2 dominant distribution, we investigated the prevalence of receptor isoforms in patients with anti-phospholipid antibodies (aPL) by a PCR-RFLP method. We studied 100 Caucasian patients with aPL (57 primary APS, 32 secondary APS to SLE and 11 other diseases with aPL) and 41 healthy controls. H131/H131, H131/R131 and R131/R131 genotypes were found in 21 (21%), 50 (50%) and 29 (29%) in the patient group, and 9 (22%), 23 (56%) and 9 (22%) in control group, respectively. Thus there was no statistically significant difference in the prevalence of each genotype in these groups. None of the clinical manifestations of primary APS (arterial/venous thrombosis, recurrent pregnancy loss and thrombocytopenia) was significantly correlated with any FcγRIIA genotype. In conclusion, FcγRIIA polymorphism did not correlate with the manifestations of APS, and FcγRIIA genotype is not a genetic marker of APS.


2020 ◽  
Author(s):  
Maryam Jalili ◽  
Samira Asadollahi ◽  
Seyed Morteza Seifati ◽  
Hamid Reza Ashrafzadeh ◽  
Nasrin Ghasemi

Abstract Background: Repeated Pregnancy Loss (RPL) is defined as 2 or more consecutive spontaneous losses of pregnancy before 20 weeks. Some genetic polymorphisms such as endothelial nitric oxide synthase (eNOS) gene, which lead to the synthesis of nitric oxide, could be the reasons for RPL. This case-control study was investigated the frequency of -786 T>C variant in eNOS gene promoter in Iranian women with RPL. Methods : Blood samples were obtained from 100 unrelated women affected by recurrent pregnancy loss and 100 unaffected women as controls. Genomic DNA was extracted and -786 T>C polymorphism in eNOS gene promoter investigated by PCR-RFLP method in all of the samples. Statistical analysis in the group patients and controls were performed by chi-square test and P-values of <0.05 were considered significant.Results: Frequency of homozygous TT was 40% in cases and 46% in control group and frequency of CC was 6% in cases and 5% in the control group and frequency heterozygote TC was 54% in cases and 46% in control group. Genotype frequencies between the two groups showed no significant differences (P>0/05).Conclusion: The result of this study showed that this polymorphism is not more frequent in recurrent pregnancy loss in this population.


2012 ◽  
Vol 108 (10) ◽  
pp. 693-700 ◽  
Author(s):  
Juliano Bertinato ◽  
Carolina Bueno ◽  
Kelma da Silva ◽  
Mário de Carvalho ◽  
Rossana Francisco ◽  
...  

SummaryRecurrent pregnancy loss (RPL) is a multifactorial condition. The effect of antithrombin (SERPINC1), protein C (PROC), thrombomodulin (THBD) and tissue factor pathway inhibitor (TFPI) single nucleotide polymorphisms (SNPs) on the risk of RPL is thus far unknown. Our objective was to determine the association of SNPs in the above mentioned genes with RPL. We included 117 non-pregnant women with three or more consecutive losses prior to 20 weeks of pregnancy without a previous history of carrying a fetus to viability, and 264 healthy fertile non-pregnant women who had at least two term deliveries and no known pregnancy losses. The PROC (rs1799809 and rs1799808), SERPINC1 (rs2227589), THBD (rs1042579) and TFPI (rs10931292, rs8176592 and rs10153820) SNPs were analysed by Real Time PCR. Genotype frequencies for PROC 2418A>G, PROC 2405C>T, THBD 1418C>T, TFPI (T-33C and TFPI C-399T) SNPs were similar in cases and controls. The carriers of SERPINC1 786A allele (GA + AA genotypes) had an increased risk for RPL (odds ratio [OR]: 1.77, 95% confidence interval [CI]: 1.05 – 3.00, p= 0.034) while women carrying the TFPI –287C allele (TC + CC genotypes) had a protection effect on having RPL (OR: 0.46, 95% CI: 0.26 – 0.83, p= 0.009). The TCC haplotype for TFPI T-33C/ TFPI T-287C/ TFPI C-399T SNPs was less frequent in cases (5.7%) than in controls (11.6%) (OR: 0.45, 95% CI: 0.23 – 0.90, p= 0.025). In conclusion, our data indicate that SERPINC1 786G>A variant increases the risk for RPL, while TFPI T-287C variant is protective; however, further studies are required to confirm our findings.


2017 ◽  
Vol 41 (2) ◽  
Author(s):  
Alireza Isazadeh ◽  
Saba Haj Azimian ◽  
Nazila Tariverdi ◽  
Seyed Ali Rahmani ◽  
Maryam Esmaeili ◽  
...  

AbstractBackground:Recurrent pregnancy loss (RPL) is a heterogeneous condition consisting of two or more consecutive abortions occurring before 20 weeks of gestation. One of the clotting factor genes encodes factor XIII (Methods:A prospective case-control study was performed on a cohort of 310 RPL patients and 290 healthy controls. DNA was extracted from the whole blood and fragments of the Val34Leu polymorphism were amplified by polymerase chain reaction (PCR), followed by DNA sequencing. Genotyping was performed using the Sequenom MassArray system.Results:The genotype frequencies ofConclusions:No significant association was observed between the Val34Leu polymorphism and RPL among Iranian Azeri women.


PLoS ONE ◽  
2021 ◽  
Vol 16 (8) ◽  
pp. e0255920
Author(s):  
Fatemeh Bagheri Kargasheh ◽  
Soheila Ansaripour ◽  
Nasrin Borumandnia ◽  
Nariman Moradi ◽  
Zahra Zandieh ◽  
...  

Background Adipokine leptin plays a crucial role in metabolic and reproductive functions. Leptin receptor has a soluble form that binds to leptin, thus modulating its level in the circulation. It has been indicated that the levels of leptin and leptin receptor and also LEP rs7799039 and LEPR rs1137101 polymorphisms are associated with metabolic disorders. In the present study, we assessed the levels of leptin and soluble leptin receptor (sOB-R), and also the frequency of rs7799039 and rs1137101 polymorphisms in healthy fertile women and patients with polycystic ovary syndrome (PCOS), inclusive of PCOS-infertile and PCOS-recurrent pregnancy loss (RPL) subjects. Methods A total of 324 PCOS patients- including 199 infertile cases and 125 patients with a history of RPL- and 144 healthy controls were enrolled in this study. Biochemical parameters and plasma leptin and sOB-R levels were measured by ELISA and the genotypes of rs7799039 and rs1137101 polymorphisms were determined using PCR- RFLP. Results Plasma leptin and sOB-R levels were significantly higher and lower in PCOS, PCOS-infertile and PCOS RPL groups, respectively. The GG genotype frequencies of rs7799039 and rs1137101 polymorphisms were significantly different between PCOS-infertile women and non-PCOS subjects (P = 0.043, OR = 0.47, 95% CI = 0.22–0.97, and P = 0.01, OR = 0.31, 95% CI = 0.12–0.75, respectively). Increased LEP levels were associated with the risk of PCOS and RPL in women with PCOS (P = 0.039, OR = 1.203, 95%CI = [1.009–1.435] and P = 0.012, OR = 1.267, 95% CI = [1.054–1.522], respectively). Conclusion Polymorphisms rs7799039 and rs1137101 and circulating leptin and sOB-R levels were associated with infertility in Iranian women with PCOS. Further studies are needed to reveal the role of leptin in PCOS pathogenesis.


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