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Problem The mi R-196a2 T> C and mi R-499 A> G polymorphisms have been reported to be genetic risk factors for recurrent spontaneous abortion; however, that previous study focused on the genetic analyses of pregnant women rather than aborted fetuses. Because annexin A1 is a target of mi R-196a2 and is related to anti-inflammation, mi R-196a2 may be immunologically important. Moreover, mi R-146a, mi R-149, mi R-196a2, and mi R-499 have shown associations with immune responses. Method of study One hundred and eighty-two spontaneously aborted fetuses ( SAFs) were <20 weeks of gestational age. The control subjects were 101 healthy children and 302 adults collected from a convenience sample. Polymerase chain reaction and restriction fragment length polymorphism analysis was performed to identify the mi R-146a C> G, mi R-149 T> C, mi R-196a2 T> C, and mi R-499 A> G genotypes. Results Chromosomally normal SAFs had significantly different frequencies of the mi R-196a2 CC, mi R-146a CC/ mi R-196a2 CC, and mi R-149 TT/ mi R-196a2 CC genotypes compared with control subjects. Conclusions mi R-196a2 CC, mi R-146a CC/ mi R-196a2 CC, and mi R-149 TT/ mi R-196a2 CC in fetuses are possible risk factors for spontaneous abortion. [ABSTRACT FROM AUTHOR]

Abstract: Objective: To investigate the association of three common polymorphisms (−786T>C, 4a4b, 894G>T) of the endothelial nitric oxide synthase (eNOS) gene with idiopathic recurrent spontaneous abortion (RSA). Study design: In a prospective case–control study, 340 patients with unexplained recurrent spontaneous abortion and 115 controls with at least one live birth and no history of pregnancy loss were enrolled. Polymerase chain reaction and restriction fragment length polymorphism analysis were performed to identify the genotypes. Results: The recurrent spontaneous abortion patients exhibited a significantly higher frequency of the eNOS 894GT+TT genotype (Odds ratio (OR), 2.39; 95% confidence interval (CI), 1.25–4.58; p =0.008) compared to the control group; no significant differences in the −786T>C and 4a4b genotype frequencies were observed. The eNOS 894GT genotype (OR, 1.94; 95% CI, 1.00–3.75; p =0.056) was marginally different between recurrent spontaneous abortion and control groups. The frequency of the −786T-4b-894T haplotype (p =0.001) was significantly higher in the idiopathic RSA group than in the control group. Conclusion: The eNOS 894GT+TT genotype and the −786T-4b-894T haplotype are significantly associated with idiopathic recurrent spontaneous abortion in Korean women. [ABSTRACT FROM AUTHOR]

Objective: To assess prevalent 5,10-methylenetetrahydrofolate reductase (MTHFR) polymorphisms in spontaneously aborted embryos. Design: A retrospectively analyzed, prospectively obtained database. Setting: Bundang CHA General Hospital and Kangnam CHA Hospital. Patient(s): Ninety-four spontaneously aborted embryos at <20 weeks of gestational age. Intervention(s): None. Main Outcome Measure: Genotype frequency of MTHFR C677T and A1298C polymorphisms in spontaneously aborted embryos. Result(s): The aborted embryos exhibited both a significantly high frequency of the MTHFR 677CC genotype and a low frequency of the MTHFR 677CT genotype, compared to both the child and the adult control groups, respectively, whereas no significant change in the fetal MTHFR A1298C genotype frequency was observed. The combinative genotype of MTHFR 677CC/1298AC from the abortus had a high prevalence compared to the child controls. Further, the chromosomal integrity of the abortus did not affect the frequency of the MTHFR 677CC and 1298AC genotypes. Conclusion: Spontaneously aborted embryos have a unique distribution of MTHFR C677T and A1289C polymorphisms, regardless of their chromosomal integrity. [Copyright &y& Elsevier]

Abstract: Objective: The aim of this study was to investigate whether two polymorphisms in the promoter region of inhibin alpha (INHA) are associated with risk of idiopathic primary ovarian insufficiency (POI) in Korean women, which is a controversial topic. Study design: We genotyped the INHA polymorphisms c.-16C>T (rs35118453) and c.-124A>G (rs11893842) of 136 POI patients and 225 controls in Korean women by polymerase chain reaction and restriction fragment length polymorphism analysis. We then compared differences in genotype and allele frequencies (AF) of the polymorphisms between the two groups to determine odds ratios (OR) and 95% confidence intervals (CI) as measures of the strength of association between genotype and POI. Results: There were no significant differences in genotype or AF of the polymorphisms between the POI patients and controls. Haplotype analysis revealed that the T–G haplotype of the two variant alleles was more frequent in POI patients than in the controls (OR=1.630, 95% CI=1.081–2.457). Combination genotype analysis showed that the CT+TT/GG genotype frequency was higher in POI patients than in the controls (OR=2.414, 95% CI=1.190–4.895). Conclusions: We provide evidence to suggest that when the two variant alleles are combined, the c.-16C>T and c.-124A>G polymorphisms are associated with increased POI risk in Korean women. We postulate that interactions between the INHA polymorphisms may affect POI risk. [Copyright &y& Elsevier]

Abstract: Aim: The aim of this study was to investigate the association of microRNA polymorphisms (miR-146aC>G, miR-149T>C, miR-196a2T>C, and miR-499A>G) in Korean patients with recurrent spontaneous abortion (RSA). Methods: We conducted a case–control study of 564 Korean women: 330 patients with at least two unexplained consecutive pregnancy losses and 234 healthy controls with at least one live birth and no history of pregnancy loss. Results: RSA patients exhibited significantly different frequencies of the miR-196a2CC (TT+TC vs. CC; adjusted odds ratio [AOR], 1.587; 95% confidence interval [CI], 1.042–2.417) and miR-499AG+GG genotypes (AOR, 1.671; 95% CI, 1.054–2.651) compared with the control group. The combination of miR-196a2CC and miR-499AG+GG showed synergistic effects (AOR, 3.541; 95% CI, 1.645–7.624). Conclusion: miR-196a2CC, miR-499AG+GG, and the miR-196a2CC/miR-499AG+GG combination are significantly associated with idiopathic RSA in Korean women. [Copyright &y& Elsevier]

Abstract: Objective: To study the association of vascular endothelial growth factor (VEGF) polymorphisms (−2578C>A, −1154G>A, −634G>C, and 936C>T) with premature ovarian failure (POF) in Korean patients. Study design: Prospective case–control study. One hundred and thirty five patients with POF and confirmed serum follicle-stimulating hormone levels of >40IU/L before the age of 40 years and 120 healthy controls with at least one live birth, regular menstrual cycles, and karyotype 46, XX. Results: POF patients exhibited significantly different frequencies of the VEGF −1154GA genotype (odds ratio [OR], 2.002; 95% confidence interval [CI], 1.116–3.592; P =0.019), and −2578CA+AA/−1154GA+AA combination genotype (OR, 1.805; 95% CI, 1.013–3.217; P =0.044) compared to the control group. The frequency of the −2578A/−1154A haplotype (OR, 1.647; 95% CI, 1.017–2.677; P =0.041) was significantly higher in the POF group than in the control group. Conclusion: The VEGF −1154G>A mutation, −2578CA+AA/−1154GA+AA combination genotype, and −2578A/−1154A haplotype are significantly associated with POF in Korean women. [Copyright &y& Elsevier]

Objective: To investigate the association between potentially functional plasminogen activator inhibitor-1 (PAI-1) genetic polymorphisms and primary ovarian insufficiency (POI). Design: Case–control study. Setting: Urban university-based hospital. Patient(s): A cohort of 137 POI patients and 227 controls. Intervention(s): None. Main Outcome Measure(s): Genotyping of five PAI-1 polymorphisms (−844G>A [rs2227631], −675 4G/5G [rs1799889], 43G>A (Ala>Thr) [rs6092], 9785G>A [rs2227694], and 11053T>G [rs7242]) was assessed by polymerase chain reaction–restriction fragment length polymorphism assay. Result(s): PAI-1 polymorphisms 9785GA+AA, −844A/9785A, 4G/9785A, and 9785A/11053G were associated with POI occurrence. Moreover, −844GA+AA and 11053TG+GG were associated with lower serum E2 levels in controls. Conclusion(s): We have identified an association between five PAI-1 polymorphisms and POI occurrence. However, the mechanism underlying the function of these polymorphisms in POI remains to be determined. Further studies are needed to improve understanding of the roles of PAI-1 polymorphisms and genes in related pathways, using a larger and more heterogeneous cohort. [Copyright &y& Elsevier]