Endothelial nitric oxide synthase gene polymorphisms (−786T>C, 4a4b, 894G>T) and haplotypes in Korean patients with recurrent spontaneous abortion

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.     

Association between cytokine gene polymorphisms and cervical cancer in a Chinese population

Objectives

It has been hypothesized that inherited cytokine gene polymorphisms could influence susceptibility to cervical cancer. This study evaluated the association between tumour necrosis factor-alpha (TNF-α)-308, transforming growth factor-beta 1 (TGF-β1), interferon-gamma (IFN-γ)+874 and interleukin-10 (IL-10)-1082 gene polymorphisms and cervical cancer risk.

Study design

The study population included 186 histopathologically confirmed cases of cervical cancer and 200 healthy controls. TNF-α, TGF-β, IL-10 and IFN-γ gene polymorphisms were genotyped by polymerase chain reaction with sequence-specific primers.

Results

The IFN-γ+874A/A genotype was associated with high risk for the development of cervical cancer [odds ratio (OR) 2.22, p = 0.012], and the A allele was associated with a 1.47-fold increased risk of cervical cancer (p = 0.009). In contrast, no significant difference was found in the frequencies of TNF-α-308G/A, TGF-β1 codons 10 and 25 C/C-G/G and IL-10-1082G/A gene polymorphisms between patients with cervical cancer and healthy controls.

Conclusions

Homozygous IFN-γ+874A/T polymorphisms may be associated with increased risk for the development of cervical cancer.     

Association of the IL4R single-nucleotide polymorphism I50V with recurrent spontaneous abortion (RSA)

Background

Recurrent spontaneous abortion (RSA) is defined as three or more consecutive abortions before the 20th week of gestation. There is increasing evidence to support an immunological mechanism for the occurrence of RSA. The purpose of our study was to examine whether single-nucleotide polymorphisms (SNPs) of the interleukin-4 receptor gene IL4R influence susceptibility to, recurrent spontaneous abortion.

Materials and methods

This is a case-control study. We recruited 200 patients with RSA (case group) using established diagnostic criteria and 200, normal individuals (control group) at the fertility and infertility center in Yazd city and Isfahan city during 2012 to 2013. We screened the I50V variant in IL-4R in patients and controls by PCR-RFLF method, and we performed an association analysis between I50V variant and RSA.the data was analyzed by spss 16 software using Chi-square test.

Results

No differences in the genotype and allele frequencies of the I50V SNPs were identified between patients with RSA and healthy controls.

Conclusions

The frequency of SNP in IL-4 receptor (I50V) in patients with recurrent spontaneous abortion did not differ significantly compared with the control group. Analysis of IL4R SNP haplotypes or complex alleles suggested no dominant protection in patients with RSA.     

DYZ1 copy number variation, Y chromosome polymorphism and early recurrent spontaneous abortion/early embryo growth arrest

Objectives

To find the association between recurrent spontaneous abortion (RSA)/early embryo growth arrest and Y chromosome polymorphism.

Study design

Peripheral blood samples of the male patients of big Y chromosome, small Y chromosome and other male patients whose partners suffered from unexplained RSA/early embryo growth arrest were collected. PCR and real-time fluorescent quantitative PCR were used to test the deletion and the copy number variation of DYZ1 region in Y chromosome of the patients. A total of 79 big Y chromosome patients (48 of whose partners suffered from RSA or early embryo growth arrest), 7 small Y chromosome patients, 106 other male patients whose partners had suffered from unexplained RSA or early embryo growth arrest, and 100 normal male controls were enrolled.

Results

There was no fraction deletion of DYZ1 detected both in big Y patients and in normal men. Of RSA patients, 1 case showed deletion of 266 bp from the gene locus 25–290 bp, and 2 cases showed deletion of 773 bp from 1347 to 2119 bp. Of only 7 small Y chromosome patients, 2 cases showed deletion of 266 bp from 25 to 290 bp, and 4 cases showed deletion of 773 bp from 1347 to 2119 bp and 275 bp from 3128 to 3420 bp.The mean of DYZ1 copies was 3900 in normal control men; the mean in big Y patients was 5571, in RSA patients was 2655, and in small Y patients was 1059. All of the others were significantly different (P < 0.01) compared with normal control men, which meant that DYZ1 copy number in normal control men was less than that of big Y chromosome patients, and was more than that of unexplained early RSA patients and small Y patients.

Conclusions

The integrity and copy number variation of DYZ1 are closely related to the Y chromosome length under microscope. The cause of RSA/early embryo growth arrest in some couples may be the increase (big Y patients) or decrease of DYZ1 copy number in the husbands’ Y chromosome.     

Associations of ACE I/D, AGT M235T gene polymorphisms with pregnancy induced hypertension in Chinese population: a meta-analysis

Purpose

There have been many studies concerning the associations of angiotensin-converting enzyme (ACE) I/D, angiotensinogen (AGT) M235T polymorphisms with pregnancy induced hypertension (PIH) among Chinese populations. However, the results were inconsistent, prompting the necessity of meta-analysis.

Methods

Studies published in English and Chinese were mainly searched in EMbase, PubMed and CBM up to January 2012.

Results

Twenty-three studies with 3,551 subjects for ACE I/D and seven studies with 1,296 subjects for AGT M235T were included. Significant associations were found between ACE I/D and PIH under dominant, recessive and allelic models. A separate analysis confined to preeclampsia suggested that ACE I/D was associated with preeclampsia under recessive model and allelic model, but not dominant model. Stratified analyses were conducted as meta-regression analysis indicated that the sample size of case group was a significant source of heterogeneity, which suggested no significant association between ACE I/D and PIH in the subgroup of more than 100 cases. Associations were found between AGT M235T and PIH under dominant genetic model (OR?=?1.59; 95?%CI: 1.04–2.42), recessive genetic model (OR?=?1.60; 95?%CI: 1.07–2.40), and allelic model (OR?=?1.40; 95?%CI: 1.17–1.68). No publication bias was found in either meta-analysis.

Conclusions

The present meta-analysis suggested significant associations between ACE I/D, AGT M235T and PIH in Chinese populations. However, no significant association was found between ACE I/D and PIH in the subgroup of more than 100 cases. Studies with larger sample sizes are necessary to investigate the associations between gene polymorphisms and PIH in Chinese populations.     

Polymorphisms of plasminogen activator inhibitor-1, angiotensin converting enzyme and coagulation factor XIII genes in patients with recurrent spontaneous abortion

We investigated polymorphisms of plasminogen activator inhibitor-1 (PAI-1), angiotensin converting enzyme (ACE ) and coagulation factor XIII (FXIII) genes and their association with recurrent spontaneous abortion (RSA) in Iranian patients and normal healthy controls. Ten (18.5%) patients were homozygote (4G/4G) for PAI-1 polymorphism, in contrast with two (2%) controls (p = 0.001). Patients with homozygote 4G mutation were significantly more prone to RSA in contrast to others (odds ratio: 11.0, 95% CI: 2.3–52.4). Nineteen (30.2%) patients and 25 (26.6%) controls were homozygote (DD) for ACE polymorphism. We observed only two patients and one control with homozygosity (34leu) for FXIII polymorphism. 4G/4G polymorphism for PAI-1 gene could be a thrombophilic mutation leading to abortion in Iranian population.     

Combination of polymorphisms in luteinizing hormone β, estrogen receptor β and progesterone receptor and susceptibility to infertility and endometriosis

Objectives

To determine whether the combination of PR (PROGINS), ERβ G + 1730A and/or LHβ G1502A polymorphisms in infertile women with and without endometriosis and in a control group increases the risk of infertility and/or endometriosis.

Study design

Case-control study including 201 infertile women with endometriosis, 80 infertile women without endometriosis and 206 fertile women as control group. PROGINS was identified by PCR (polymerase chain reaction) and ERβ G + 1730A and LHβ G1502A were identified by PCR-RFLP (restriction fragment length polymorphism).

Results

A statistically significant difference was found for the combination of LHβ + ERβ polymorphisms among infertile patients with endometriosis and control group (p = 0.003, OR = 2.468), among infertile patients with endometriosis I/II and control group (p = 0.002, OR = 3.081), among infertile patients with endometriosis III/IV and control group (p = 0.035, OR = 2.136) and for the combination of LHβ + PROGINS polymorphisms among infertile patients with endometriosis I/II and control group (p = 0.014, OR = 3.081). However, the odds of developing endometriosis are not enhanced in the presence of the two polymorphisms, being similar to the odds when only LH polymorphism is present.

Conclusions

Individually, the presence of LHβ G1502A and ERβ G + 1730A polymorphisms is associated with infertility and endometriosis associated infertility. However, when two polymorphisms are present in the same individual it does not appear to increase the chance of developing endometriosis or infertility.     

Polymorphisms of <Emphasis Type="Italic">ICAM-1</Emphasis> and <Emphasis Type="Italic">IL-6</Emphasis> genes related to endometriosis in a sample of Brazilian women

Purpose

This study investigated the possibility of K469E (rs5498) and G241R (rs1799969) polymorphisms, in ICAM-1 gene, and G634C (rs1800796), in IL-6 gene, being associated with the occurrence of endometriosis in a sample of Brazilian women.

Methods

We genotyped 200 women (100 in control group and 100 in endometriosis group) by PCR-RFLP technique for G634C, K469E, and G241R polymorphisms.

Results

No significant difference was observed in genotypic frequency between control and endometriosis groups for G634C and K469E polymorphisms (p?=?0.61 and p?=?0.22, respectively). In addition, no significant difference between stages I-II and III-IV of the disease was found for both SNPs (p?=?0.63 and p?=?0.24, respectively). All individuals were wild homozygotes for G241R polymorphism.

Conclusion

This study suggests that polymorphisms K469E, G241R, and G634C are not associated with increased susceptibility to endometriosis in Brazilian women.

     

Association between G1733A (rs6152) polymorphism in androgen receptor gene and recurrent spontaneous abortions in Mexican population

Introduction

Recurrent spontaneous abortion (RSA) is a multifactorial condition that occurs with a frequency of 0.2–5% in women of reproductive age. Among genetic factors, the single nucleotide polymorphism (SNP) G1733A in the androgen receptor (AR) gene has been associated with its presence in Greek and Iranian populations. Therefore, the aim of this study is to determine its possible association with RSA in this population.

Patients and methods

A total of 156 Mexican RSA (with at least 2 consecutive abortions) unrelated patients and 152 unrelated healthy women were included, the presence of karyotype anomalies in the parents as well as uterine anomalies as well as antiphospholipid antibodies was excluded in patients; while all the controls presented at least two healthy pregnancies and no abortion. In all the included women, the presence of the SNP G1733A was determined by restriction fragment length polymorphism (RFLP) technique.

Results

No significant differences were observed in age between groups. The genotype GG, GA, and AA had a frequency of 0.70, 0.27, and 0.03 in controls and of 0.89, 0.10, and 0.01 in patients (p < 0.001); while the A allele frequency was of 0.06 and 0.16 in controls and patients, respectively (p < 0.0001). The difference in allele frequency increased 10–15% when patients with primary RSA (with no live births) and with at least three abortions were included.

Conclusions

The SNP G1733A of the AR gene is significantly associated with RSA in Mexican patients. These results coincide with previous reports in other populations.

     

Three polymorphisms of renin-angiotensin system and preeclampsia risk

PurposeSome data suggest an association between the single nucleotide polymorphisms AGT T704C, ACE I/D, and AT1R A1166C and preeclampsia, but overall, the data are conflicting; the aim of our study was to discover a more stable and reliable association between these polymorphisms and PE risk.MethodsA comprehensive literature search for this meta-analysis was conducted. Odds ratios (OR) and 95% confidence intervals (CIs) were calculated to evaluate the strength, and heterogeneity test was conducted. Trial sequential analysis was also performed.ResultsA total of forty studies were finally included in our meta-analysis. The AGT T704C polymorphism was associated with PE risk in three genetic models (dominant OR = 1.33, 95%CI = 1.12–1.59; heterozygote OR = 1.26, 95%CI = 1.05–1.52; homozygote OR = 1.44, 95%CI = 1.14–1.83). No heterogeneity was observed in the three genetic models for the ACE I/D polymorphism. For subgroup analysis by geography, no significant association was detected. Significant associations were observed in mixed race, early-onset, late-onset, and more than 200 subgroups for the AT1R A1166C polymorphism; however, only one study was analyzed in these subgroups.ConclusionsOur results indicated the AGT T704C and ACE I/D polymorphisms were associated with an increased risk of PE. Increased risks were also observed for the two polymorphisms in subgroups including Asians, Europeans, Caucasoid, and Mongoloid. Moreover, an increased PE risk with the ACE I/D polymorphism in the severe PE population was also detected. Regarding the AT1R A1166C polymorphism, weak associations were observed, but further studies are required.Electronic supplementary materialThe online version of this article (10.1007/s10815-020-01971-8) contains supplementary material, which is available to authorized users.     

Glutathione S-transferase A1 polymorphism and the risk of recurrent spontaneous abortion in Chinese Han population

Objective

Recurrent spontaneous abortion (RSA) is a multifactor and distressing disease. There are still approximately half of the RSA patients with cause not being identified to date. Accumulating studies have confirmed that genetic polymorphisms in glutathione S-transferases (GSTs) were associated with the risk of recurrent spontaneous abortion. In this study, we aimed to investigate the relationship between the polymorphism of GSTA1, which is GSTA1 -69C/T (rs3957357), and the development of recurrent spontaneous abortion.

Methods

A case–control study of 127 cases with RSA and 112 ethnic and age matched women as controls was conducted. And measurement of Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) was performed to genotype all of samples in order to analyze the association between GSTA1 -69C/T (rs3957357) and the risk of RSA.

Results

We found that the frequencies of genotypes between cases and controls have no significant difference (P = 0.908) and GSTA1 mutant allele GSTA1 −69 T was present at a frequency of 0.122 in case group, while in controls the frequency was 0.125 (P = 0.922).

Conclusion

The polymorphism of GSTA1 (rs3957357) may not be associated with the risk of recurrent spontaneous abortion in Chinese Han population.     

Maternal angiogenic profile in pregnancies that remain normotensive

Objective

We sought to determine if maternal characteristics are associated with angiogenic profile in the first and second trimester of normotensive pregnancies.

Study design

Circulating levels of maternal placental like growth factor (PlGF), soluble fms-like tyrosine kinase receptor (sFlt1), and soluble endoglin (sEng) were measured in serum samples collected during the first (median 11.3 weeks) and second trimester (median 17.1 weeks) of 182 normotensive pregnancies. Diastolic blood pressure (DBP), systolic blood pressure (SBP), and mean arterial pressure (MAP) were measured at the same visits when samples were collected to measure angiogenic factors. Linear regression analysis was used to examine associations of the angiogenic measures with maternal characteristics. The association between blood pressure measures and concentrations of angiogenic factors was evaluated using Spearman correlation and linear regression analysis.

Results

In adjusted analyses, nulliparous women had higher sFlt1 concentrations in both first (p = 0.06) and second (p = 0.001) trimester. Higher BMI was associated with greater sFlt1 concentrations in both the first (p = 0.004) and second trimester (p = 0.008), but significantly lower sEng concentrations in both trimesters (p = 0.002 for first trimester and p = 0.0009 for second). Nulliparity and higher BMI also were associated with higher sFlt1/PLGF anti-angiogenic ratios in both first (p = 0.05 and p = 0.007, respectively) and second trimesters (p = 0.003 and p = 0.02, respectively). First trimester sFlt1 levels were weakly correlated with first trimester SBP (r_s = 0.18, p = 0.03) and MAP (r_s = 0.16, p = 0.04). Second trimester sEng levels were inversely associated with second trimester MAP (r_s = −0.17, p = 0.05). Including blood pressure measures in the linear regression models did not change the reported associations of angiogenic factors with maternal characteristics.

Conclusions

These results demonstrate that even early in normotensive pregnancies maternal characteristics are associated with variations in angiogenic profile across this population.     

Gene-gene interactions and gene polymorphisms of VEGFA and EG-VEGF gene systems in recurrent pregnancy loss

Purpose

Both vascular endothelial growth factor A (VEGFA) and endocrine gland-derived vascular endothelial growth factor (EG-VEGF) systems play major roles in angiogenesis. A body of evidence suggests VEGFs regulate critical processes during pregnancy and have been associated with recurrent pregnancy loss (RPL). However, little information is available regarding the interaction of these two major major angiogenesis-related systems in early human pregnancy. This study was conducted to investigate the association of gene polymorphisms and gene-gene interaction among genes in VEGFA and EG-VEGF systems and idiopathic RPL.

Methods

A total of 98 women with history of idiopathic RPL and 142 controls were included, and 5 functional SNPs selected from VEGFA, KDR, EG-VEGF (PROK1), PROKR1 and PROKR2 were genotyped. We used multifactor dimensionality reduction (MDR) analysis to choose a best model and evaluate gene-gene interactions. Ingenuity pathways analysis (IPA) was introduced to explore possible complex interactions.

Results

Two receptor gene polymorphisms [KDR (Q472H) and PROKR2 (V331M)] were significantly associated with idiopathic RPL (P < 0.01). The MDR test revealed that the KDR (Q472H) polymorphism was the best loci to be associated with RPL (P = 0.02). IPA revealed EG-VEGF and VEGFA systems shared several canonical signaling pathways that may contribute to gene-gene interactions, including the Akt, IL-8, EGFR, MAPK, SRC, VHL, HIF-1A and STAT3 signaling pathways.

Conclusion

Two receptor gene polymorphisms [KDR (Q472H) and PROKR2 (V331M)] were significantly associated with idiopathic RPL. EG-VEGF and VEGFA systems shared several canonical signaling pathways that may contribute to gene-gene interactions, including the Akt, IL-8, EGFR, MAPK, SRC, VHL, HIF-1A and STAT3.     

Association of polymorphisms in <Emphasis Type="Italic">tektin-t</Emphasis> gene with idiopathic asthenozoospermia in Sichuan,China

Purpose

The purpose of this research was to study the association between the single nucleotide polymorphisms (SNPs) of the tektin-t gene and idiopathic asthenozoospermia.

Methods

We conducted sequence analyses of the tektin-t gene in 104 idiopathic asthenozoospermia and 102 fertile men with normospermic parameters in Sichuan, China.

Results

In this study, we found that allele 136 T (odds ratio [OR] 1.745, 95 % confidence interval [CI] 1.146–2.655, P?=?0.009) was significantly increased in idiopathic asthenozoospermic patients compared with fertile men. This mutation substitutes a highly conserved arginine at position 46 to cysteine. Moreover, PolyPhen-2 analysis predicted that this variant was “probably damaging”. In addition, a novel heterozygous mutation, R207H (c.620G >A), was detected in five asthenozoospermic patients, while there was no detection of this genotype among the fertile candidates, indicating that the mutation was located within a conserved domain predicted by PolyPhen-2 analysis as “probably damaging” to the protein.

Conclusions

These results suggested that tektin-t variants (Arg/Cys?+?Cys/Cys) were probably one of the high risk genetic factors for idiopathic asthenozoospermia among males in Sichuan, China, while the R207H polymorphism may be associated with idiopathic asthenozoospermia risk.

     

Angiotensin-converting enzyme insertion/deletion (I/D) polymorphisms and recurrent pregnancy loss: a meta-analysis

Background

Recurrent pregnancy loss (RPL) had said to be related to the angiotensin converting enzyme insertion/deletion polymorphisms (ACE I/D) gene polymorphisms. But the conclusions were controversial. This meta-analysis was conducted to investigate the real association in ACE I/D polymorphisms and RPL firstly.

Methods

Combine Pubmed Embase and HuGENet database in data analysis for this meta-analysis from October 2000 to November 2011. The metagen system was used to select the models and effects. Odds ratio (OR) with 95% confidence interval (CI) was used to assess the strength of this association.

Results

9 studies from six countries with 1264 RPL and 845 controls were included according to our criterion. Following the metagen system, we used the dominant model with random effects. The summary OR =1.61 (95% CI: 1.10-2.36, I² = 59.0%), which suggested the ACE D allele might increase the RPL risk in Asia (OR=1.97, 95% CI: 1.31-2.98, I² = 44.4%), among Asians (OR=1.69, 95% CI: 1.06-2.36, I² =32.7%). In additional, after conducting sensitivity analysis, the results had no differences except for Caucasian subgroup reached to the significance (OR=2.059, 95% CI: 1.455-2.914), so we couldn’t ignore the relationship between the polymorphisms of ACE D/I gene and Caucasians yet. There seemed no publication bias in our eligible studies with Begg’s test (P = 0.867).

Conclusions

Results in this meta-analysis presented the positive function of the ACE I/D polymorphism in increasing the RPL risk. Furfure prospective studies were needed to confirm the precise relationship between the ACE I/D and RPL.     

Uterine artery Doppler and subendometrial blood flow in patients with unexplained recurrent miscarriage

Objective

To evaluate uterine artery blood flow and subendometrial blood flow in women with unexplained recurrent miscarriage (RM) compared to normal fertile women.

Design

Case control study.

Settings

Departments of Obstetrics and Gynaecology, Cairo university and, Beni Souif University, Cairo, Egypt.

Patients and methods

Women were divided into two groups: those with history of unexplained recurrent miscarriage (study group, no. = 40), and those with no history of miscarriage and at least one child born at term (control group, no. = 40), transvaginal 3D power Doppler ultrasonography was performed to all patients in the second phase of non-pregnant unstimulated cycle to detect uterine artery pulsatility index (UAPI) and subendometrial area to detect subendometrial blood flow presented by the indices vascularisation index (VI), flow index (FI), and vascular flow index (VFI). The indices between the two groups were compared.

Results

UAPI was significantly higher in the study group (p = 0.000), on the other hand VI (p = 0.000), FI (p = 0.000), VFI (p = 0.000) were significantly lower in the study group. A significant positive correlation was found between UAPI and recurrent miscarriage in the study group (r = 0.8, p = 0.00), whereas a significant negative correlation was found between VI (r = −0.56, p = 0.00), and FI (r = −0.79, p = 0.00) and recurrent miscarriage in the study group, but no significant correlation was found between endometrial thickness and endometrial volume between the two groups. However the application of binary logistic regression analysis model found that adding variables has not significantly increased the ability to predict the occurrence of miscarriage.

Conclusion

The presence of good uterine and endometrial blood flow is an important prerequisite for successful implantation and continuation of pregnancy as shown by higher uterine artery blood flow resistance and lower endometrial blood flow in recurrent miscarriage cases and those patients with unexplained RPL may have abnormalities in the uterine and endometrial blood flow. Despite these findings we could not find any cut off values that could predict the occurrence of miscarriage which may be attributed to small sample size and short period of follow up so larger prospective studies are needed aiming to confirm such results and reaching values that can accurately predict the occurrence of miscarriage.     

Association of glutathione S-transferase M1 and T1 null polymorphisms with the development of cervical lesions: a meta-analysis

Objectives

An accumulation of evidence suggests that gene-based self-susceptibility may contribute to the development of cancer. Some studies have found that particular polymorphisms of the glutathione S-transferase M1 and T1 genes are associated with increased risk of cervical lesions, but other studies have had contrary results. The present meta-analysis evaluated the association of glutathione S-transferase M1 and T1 null polymorphisms with the development of cervical lesions. In addition, stratified analyses were performed in an attempt to identify any race-specific effects.

Study design

Twenty-one related studies were included in the meta-analysis, comprising glutathione S-transferase M1 data from 1423 patients with cervical lesions and 2415 healthy matched controls, and glutathione S-transferase T1 data from 2081 patients with cervical lesions and 2287 healthy matched controls. The fixed-effect model (Mantel–Haenszel method) and the random-effect (DerSimonian and Laird) model were used to examine the difference in frequency of glutathione S-transferase M1 and T1 null polymorphisms between pre- and invasive cervical lesions. Subgroup analyses were also conducted to evaluate any race-specific effect on the frequencies of glutathione S-transferase polymorphisms in cervical lesions. Odds ratios (OR) and 95% confidence intervals (CI) were calculated. Heterogeneity was assessed using the heterogeneity metric (I²) and Chi-squared test.

Results

The glutathione S-transferase M1 null polymorphism was associated with increased risk of low-grade intra-epithelial lesions (OR 1.37, 95% CI 1.05–1.77), but no increased risk of high-grade intra-epithelial lesions (OR 1.29, 95% CI 0.87–1.8) or invasive cervical cancer (OR 1.20, 95% CI 0.99–1.46). The association seemed to be confined to Southeast Asians (OR 1.97, 95% CI 1.44–2.71). No significant associations were found for the glutathione S-transferase T1 null polymorphism for any of the populations.

Conclusions

The glutathione S-transferase M1 null polymorphism significantly increases susceptibility to early-stage cervical lesions in Southeast Asians. However, the glutathione S-transferase T1 null polymorphism does not appear to be a risk factor for cervical lesions in any population.     

A prospective comparison of single-port laparoscopically assisted vaginal hysterectomy using transumbilical GelPort access and multiport laparoscopically assisted vaginal hysterectomy

Objective

To evaluate the feasibility and safety of single-port laparoscopically assisted vaginal hysterectomy (SP-LAVH) using transumbilical GelPort access.

Study design

A prospective case–control study was performed at a University teaching hospital between January 2009 and March 2010, a total of 242 women with a uterus ≤16 weeks gestational size were enrolled in the study. Eighty women underwent SP-LAVH using transumbilical GelPort access (SP-LAVH group), and 162 women underwent conventional multiport LAVH (conventional LAVH group).

Results

There were no statistical differences between groups in the patients’ demographic characteristics, median operating time (92.5 vs. 90 min; P = 0.479), postoperative changes in hemoglobin concentration (1.4 vs. 1.4 g/dL; P = 0.290), weight of the resected uterus (246 vs. 256 g; P = 0.098), return of bowel activity (37.1 vs. 39.8 h; P = 0.103), hospital stay (3 vs. 3 days; P = 0.554), complication rate (3.8 vs. 4.3%; P = 1.000), and the rate of using an additional trocar or conversion to laparotomy (1.3 vs. 0.6%; P = 0.553).

Conclusions

SP-LAVH using transumbilical GelPort access is feasible and safe in women with a uterus ≤16 weeks gestational size. However, a large prospective randomized study is needed to confirm this conclusion and to establish guidelines for the use of SP-LAVH.     

Maternal, obstetric variables, perceived stress and health-related quality of life among pregnant women in Macao, China

Objective

to identify associations between demographic, socio-economic and obstetric variables and health-related quality of life with perceived stress among Macao Chinese pregnant women.

Design

a cross-sectional, exploratory quantitative study.

Setting

an antenatal clinic of a university-affiliated regional public hospital in Macao.

Participants

a community-based sample (n=1151) of pregnant women in the second trimester of pregnancy.

Measurements

perceived stress was measured using the Perceived Stress Scale, and health-related quality of life was measured using the standard Short Form-12 Health Survey.

Findings

a multiple linear regression analysis revealed that pregnant women who were younger (β=0.085, p=0.002), single, divorced, separated or cohabiting (β=0.067, p<0.009), had a lower level of education (β=0.079, p=0.003), worked long hours (β=0.102, p<0.001) or who had an unplanned pregnancy (β=0.063, p=0.014) with late initiation of antenatal care (β=0.066, p=0.008) or poor physical (β=−0.501, p<0.001) or mental (β=−0.115, p<0.001) health-related quality of life had higher levels of perceived stress.

Conclusion

preliminary information was provided about Macao pregnant women who had higher perceived stress during pregnancy that was associated with the demographic, socio-economic, obstetric and health-related quality-of-life variables.

Implications for practice

the development of a checklist or structured questions for clinical situations is necessary, and programmes of stress management should be tailor made during pregnancy.     

Genetic association between PAX2 and mullerian duct anomalies in Han Chinese females

Purpose

The study aims to investigate the genetic association between paired box gene 2 (PAX2) and mullerian duct anomalies (MDA) in Chinese Han females.

Methods

Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) was used to identify the genotypes of three tag single nucleotide polymorphisms (SNPs) in PAX2 in 362 MDA cases and 406 controls.

Results

We found that one tag SNP (rs12266644) of PAX2 was associated with susceptibility to MDA. The genotype distributions of the SNP rs12266644 have a statistically significant difference in the MDA patients and controls with a p value?=?0.008. In the dominant model, we also observed that the GT?+?TT genotype increased the risk for MDA (p?=?0.015, OR?=?1.637, 95 % CI?=?1.096–2.443).

Conclusion

The polymorphism rs12266644 of PAX2 might be a risk factor for MDA in Chinese Han females.