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(A) Eyes of patient 1 in neutral position. (B) Duane anomaly on left lateral gaze. (C) Arms of patient 1.
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DNA damage which occurred by the effect of oxidant and mutant agents has an essential role in the development of atherosclerosis. To investigate the possible association between GSTs polymorphism with coronary artery disease (CAD), we investigated the frequency of GSTT1, M1, and P1 genotypes in patients with CAD compared to controls. The genotypes...
It has been suggested that polymorphisms in glutathione-S-transferases (GST) could predispose to prostate cancer through a heritable deficiency in detoxification pathways for environmental carcinogens. Yet, studies linking GST polymorphism and prostate cancer have so far failed to unambiguously establish this relation in patients. A retrospective s...
Citations
... These genes have been selected based on the current understanding of PE pathology [11,24], such as genes involved in endothelial functions and related with blood pressure regulation and key genes involved in the regulation of blood pressure: sVEFGR-1, TGF-β, Eng, RAS, AGT, ACE, AGTR1 [27,28], and eNOS [29,30]; genes that regulate lipid metabolism and oxidative stress: EPHX1 [31,32], GST, NOX1, SOD2 [18,33], APOE [27], LPL [34], and ROS [35,36]; and thrombophilic genes involved in coagulation: F5, F2, and MTHFR [27,28,[37][38][39]. As previously described, PE can be caused by genetic factors from both parents, an observation supported by Andraweera et al. and Zusterzeel et al., who found that variants present in the father, more precisely in the VEGF, PIGF, and GST1 genes, can double the risk of PE [40,41]. Studies suggest that PE is an immune maladaptation due to the defective interaction between fetal antigens and maternal immune cells, limiting the establishment of immune tolerance to normal placentation. ...
Preeclampsia (PE) is a hypertensive disease that affects pregnant women after 20 weeks of gestation. This disease is associated with an important risk of maternal and fetal mortality. PE is described as a placental pathology because, after delivery, most women recover normal arterial pressure. Poor invasion of the spiral arteries is a phenomenon well described in PE; this leads to a hypoxic uterine bed and imbalance of antiangiogenic and proangiogenic factors in the uteroplacental region, which in turn triggers the disease phenotype. The causes of the pathology are unclear; nevertheless, numerous approaches, including next-generation sequencing, association, and case control and miRNA studies, have shed light on the genetic/molecular basis of PE. These studies help us better understand the disease to advance new treatment strategies.
... It has been observed that obese women were more likely to have increased levels of serum triglycerides, very low-density lipoproteins and formation of small, dense low-density lipoprotein particles. Such lipid alterations have been suggested to promote oxidative stress, caused by either ischaemia-reperfusion mechanism or activated neutrophils and lead to endothelial cell dysfunction [31]. More than half of the respondents (64%) suffered from moderate anemia followed by mild anemia 32% and severe anemia 4%. ...
... In a previous study, Zusterzeel found that 36% of 170 PE white Dutch women with a history of PE carried one rare Val105 allele while 14% carried two Val105 alleles, compared with 41% and 5%, respectively, in controls. This suggested that women with the GSTP1 P1b-1b genotype have a higher susceptibility to PE [41,42]. Similarly, in a Japanese study, 26% of 97 patients with PE from Hokkaido University Hospital carried one Val105 allele while 74% lacked the Val105 allele, indicating that the Val105 allele is associated with PE risk [43]. ...
Background/aims:
Increasing evidence shows that oxidative stress plays an important part in the pathophysiological mechanisms of preeclampsia (PE). Polymorphic variants of oxidative stress-related candidate genes GST1 and GPX1 can affect the antioxidant activities of their encoded enzymes. Therefore, this study aimed to explore the associational analysis between GSTP1 and GPX1 single nucleotide polymorphisms (SNPs) and susceptibility to PE in Chinese Han women.
Methods:
DNA from 1130 PE patients and 1226 healthy individuals was genotyped for SNPs rs1695 in GSTP1 and rs1050450 in GPX1 using a predesigned TaqMan SNP genotyping assay. The χ2 test compared differences in genetic distributions between the two groups in a case-control study.
Results:
No significant differences in allelic or genotypic frequencies of GSTP1 rs1695 or GPX1 rs1050450 were detected between cases and controls (GSTP1 rs1695: χ2=1.122, p=0.571 by genotype, χ2=0.138, p=0.710, odds ratio=1.027, 95% confidence interval 0.892-1.183 by allele; GPX1 rs1050450: χ2=0.036, p=0.982 by genotype, χ2=0.002, p=0.960, odds ratio=1.005, 95% confidence interval 0.822-1.229 by allele). Moreover, no significant differences in genetic distribution were found between early/late-onset PE or mild/severe PE and control subgroups.
Conclusion:
Our results suggest that GSTP1 rs1695 and GPX1 rs1050450 SNPs have no effects on the risk of PE in the Chinese Han population. However, these results should be confirmed by replication in different populations.
... In accordance of the observed results of the current study, some studies reported the same associations as the Val-105 (G) allele was associated with an increased risk of developing preeclampsia in a Dutch population (Zusterzeel et al., 2000) and with severe hypertension in elderly pregnancy in a Japanese population (Ohta et al., 2003). It is of interest that homozygosity for the Val-105 polymorphism was associated with severe preeclampsia because of the production of a GSTP1 enzyme with reduced detoxifying capacity (Zusterzeel et al., 2002). However, a study performed by Canto et al. (2008) on Maya-Mestizo women reported different associations in which the GSTP1-G (Val) allele conferred a reduced risk of preeclampsia under a dominant model, since the comparison of AG and GG vs. AA genotype frequencies was significantly different. ...
Susceptibility to preeclampsia is believed to have a genetic component. Several studies have reported
associations between polymorphisms of oxidative stress- related genes and preeclampsia. The aim of the present
study was to study the polymorphisms in anti-oxidant genes glutathione S-transferase P1 (GSTP1) and Mn-
superoxide dismutase (Mn-SOD) in patients with of preeclampsia. Seventy four preeclampsia patients and fifty
age-matched healthy pregnant female controls were genotyped for GSTP1 and Mn-SOD. DNA was extracted
from peripheral blood of all patients and control women. DNA analysis was carried out by polymerase chain
reaction (PCR), and then digestion of the PCR products by restriction enzymes (RFLP) for both genes was
performed. As regards GSTP1, the carriers of Val (G) allele were significantly more frequent among
preeclampsia patients when compared to the control group (45.95% Vs. 19%, X2
=10.40, OR=2.418, 95%CI
(1.3698 - 4.269); p=0.0023). Preeclampsia patients had a lower frequency of GSTP1 Ile/Ile (AA) genotype
(31.1% Vs. 68% in control; X2
=13.09, OR=0.457, 95%CI (0.241 - 0.866); p =0.0164). The frequency of
GSTP1 Ile/Val (AG) and Val/Val (GG) genotypes was higher in preeclampsia patients than control (68.9%Vs.
32%; X2
= 12.83, OR=2.154, 95%CI (1.106 - 4.194); p =0.0241). However, non significant frequencies
differences as regards Mn-SOD genotypes or alleles were found between preeclampsia patients and control. It
could be concluded that, pregnant Egyptian women carrying the Val (G) allele of GSTP1 GSTP1 -105 Ile →Val
(-313 A to G) polymorphism may be more susceptible to preeclampsia either in homozygous or heterozygous
state.
... In addition, recent studies had highlighted immunological intercourse as the prevention of this maternal-foetal conflict called pregnancy induced hypertension. 17 There is an association of pregnancy-induced hypertension with duration of sexual co-habitation before the first conception. Male ejaculate is said to help protect a woman if she has been repeatedly exposed to it. ...
... Male ejaculate is said to help protect a woman if she has been repeatedly exposed to it. 17 In our environment, being a single mother could be by chance, viz, a single intercourse. Thus, the single mother, because of short duration of the relationship may develop HDP. ...
... 5,7,20,21 These are consistent with the hypothesis that immune maladaptation might play a role in triggering the development of HDP. 17 It was also found that BMI >27 kg/m 2 was associated significantly with the risk of the development of HDP. It has been observed that obese women were more likely to have increased levels of serum triglycerides, very low-density lipoproteins and formation of small, dense low-density lipoprotein particles w19x. ...
Background:
Hypertensive disorders in pregnancy (HDP) represent a group of conditions associated with high blood pressure during pregnancy. It is an important cause of feto-maternal morbidity and mortality, particularly in developing countries. The aims of the study were to find the prevalence of hypertensive disorders and its associated risk factors among women attending the antenatal clinic of Usmanu Danfodiyo University Teaching Hospital,(UDUTH) Sokoto.
Materials and Methods:
A longitudinal study of 216 consecutively recruited women that were less than 20 weeks pregnant at booking was carried out. Blood pressure was measured for each woman at booking and at subsequent visits. Urinalysis was done at booking and whenever blood pressure was elevated. Patients were followed-up to delivery and 6 weeks postpartum. Data entry and analysis was done using Statistical Analysis System (SAS) statistical package.
Results:
The prevalence of HDP in the study was 17% while preeclampsia was 6%. Previous history of preeclampsia (P < 0.001; Relative risk (RR) 4.2; conficence interval (CI) 2.144-6.812), multiple gestation (P < 0.03; RR 3.8; CI 1.037-6.235), gestational diabetes (P < 0.02; RR 4.8; CI 1.910-6.751) and obesity (P < 0.002; RR 2.7; CI 1.373-5.511) were the significant risk factors in the development of HDP among the study population.
Conclusion:
The prevalence of HDP in the study group is high. Therefore, paying attention to the risk factors will ensure early detection and prevention of the progression of the disease and its sequelae.
... In pregnant women, the carriership of the Ile105Val polymorphism in the GSTP1 gene was found to be associated with increased risk for pre-eclampsia [41,42]. It is notable that paternal contribu on of polymorphic alleles of GSTP1 to the developing embryo may also play a role in the risk for development of pre-eclampsia [43]. ...
The first part of this paper reviews the major achievements in the rapidly expanding field of research of individual capacity for repair of genotoxic damage. The issues of individual repair capacity are addressed from multiple sides, analyzing the impact of the heritable components of the capacity for detoxification of genotoxic compounds, on the one hand (determining the risk for occurrence of DNA damage) and of the capacity for repair of DNA damage (when it has already occurred), on the other hand. The role of the capacity for repair of damage to DNA is discussed in the constitution of the risk for development of disease (mainly cancer, but also other common diseases and conditions, such as diabetes, atherosclerosis and cardiovascular disease) and as a major factor in the outcomes of genotoxic therapies (eligibility for therapy with specific agents, risk for severe adverse effects, post-therapeutic survival rates, etc.). The paper contains an extensive list of biomarkers (mainly DNA polymorphisms, but also enzymes and other phenotypic markers, such as markers of the capacity for self-renewal of cell populations) that may be potentially applicable in the assessment of the risk for carcinogenesis or for development other types of human disease.The second part of the paper provides a brief glimpse of the basic methodology used to obtain experimental results in assessment of the efficiency of DNA repair in living cells for research and diagnostic purposes.
... Embryo-transfer procedures are ingrained with a number of confounding elements that limit its utility in separating between maternal and germ line influences in the transgenerational programming of disease. While an F2 phenotype via the paternal line eliminates direct maternal influences, males born to preeclamptic mothers are more likely to have female partners that develop preeclampsia (12,46). This paternal link suggests a Restricted father has the potential to influence his partner's adaptation to pregnancy, and via this indirect pathway, the F2 phenotype may be programmed. ...
Adverse conditions in utero can have transgenerational effects, in the absence of a subsequent insult. We aimed to investigate the contribution of the maternal pregnancy environment vs. germ-line effects in mediating alterations to cardio-renal and metabolic physiology in offspring from mothers born small. Uteroplacental insufficiency was induced by bilateral uterine artery and vein ligation (Restricted) or sham surgery (Control) in Wistar-Kyoto rats. Restricted and Control female offspring (F1) were mated with either breeder males (embryo donor) or vasectomised males (embryo recipient). Embryo transfer was performed at embryonic day (E) 1 whereby second generation (F2) embryos gestated (donor-in-recipient) in either a Control (Cont-in-Cont, Rest-in-Cont) or Restricted (Cont-in-Rest, Rest-in-Rest) mother. In male and female offspring, glomerular number and size were measured at postnatal day (PN) 35 and systolic blood pressure, glucose control, insulin sensitivity and pancreatic β-cell mass were measured in separate sibling cohorts at 6 months. Rest-in-Rest offspring were hypothesised to have similar characteristics (reduced growth, altered metabolic control and hypertension) to non embryo-transferred Rest, such that embryo transfer would not be a confounding experimental influence. However, embryo-transferred Rest-in-Rest offspring underwent accelerated growth during the peri-pubertal phase, followed by slowed growth between 2-3 months of age compared with non embryo-transferred Rest groups. Furthermore, renal function and insulin response to a glucose load were different to respective non embryo-transferred groups. Our data demonstrate the long-term effects of in vitro embryo manipulation, which confounded the utility of this approach in delineating between the maternal pregnancy environment and germ-line effects that drive transgenerational outcomes.
... Paternal (or fetal autosomal) genetic thrombophilias have been linked to a range of adverse pregnancy outcomes ranging from stillbirth, to intra-uterine growth restriction (IUGR) and preeclampsia (de Galan-Roosen et al., 2005;Gibson et al., 2006). Andraweera et al. (2010) published data showing almost a doubling of the risk associated with paternal SNPs involving VEGF and PlGF, while Zusterzeel et al. (2002) showed that the polymorphism in the glutathione S-transferase P1 gene, a major biotransformation enzyme in placenta and decidua associated with lower enzyme detoxification capacity, is associated with preeclampsia irrespective of whether it was of maternal or paternal origin. The potential involvement of some other paternal SNPs will be further discussed (see below). ...
Preeclampsia is often considered as simply a maternal disease with variable degrees of fetal involvement. More and more the unique immunogenetic maternal-paternal relationship is appreciated, and also the specific 'genetic conflict' that is characteristic of haemochorial placentation. From that perspective, pre-eclampsia can be seen as a disease of an individual couple with primarily maternal and fetal manifestations. The maternal and fetal genomes perform different roles during development. Heritable paternal, rather than maternal, imprinting of the genome is necessary for normal trophoblast development. Large population studies have estimated that 35% of the variance in susceptibility to preeclampsia is attributable to maternal genetic effects; 20% to fetal genetic effects (with similar contributions of both parents), 13% to the couple effect, less than 1% to the shared sibling environment and 32% to unmeasured factors. Not one of these large population studies focussed on the paternal contribution to preeclampsia, which is demonstrated by (1) the effect of the length of the sexual relationship; (2) the concept of primipaternity versus primigravidity; and (3) the existence of the so-called 'dangerous' father, as demonstrated in various large population studies. It is currently unknown how the father exerts this effect. Possible mechanisms include seminal cytokine levels and their effect on maternal immune deviation, specific paternal HLA characteristics and specific paternal single nucleotide polymorphisms (SNPs), in particular in the paternally expressed genes affecting placentation. Several large cohort studies, including the large international SCOPE consortium, have identified paternal SNPs with strong associations with preeclampsia.
... Val) and thus in a less functional enzyme [14,15]. Therefore, Val 105 polymorphism results in lower detoxification in the trophoblast and thus increases the oxidative status and susceptibility to pre- eclampsia [16]. Nitric oxide (NO) and its signaling cascade are important for the placental function and particularly for the regulation of blood flow and vasomotor tone [17]. ...
... Thus, placenta and the fetus reflect in part, the paternal component of the pregnancy and their unique genotypes may contribute to the development of preeclampsia, under a specific maternal genotype. However, this rather new approach of evaluation of the role of paternal–fetal genotype on the susceptibility for preeclampsia has led to inconsistent and conflicting results in the few studies conducted so far [16,3334353637. The reasons for this failure might reflect analysis of individual single-gene polymorphisms , or evaluation of genes not linked pathophysiologically to the mechanisms of preeclampsia, or the effects of different genetic backgrounds of the ethnic groups analyzed, or finally, small size of samples. ...
... The procedure typically resulted in the isolation of 50–200 ng of genomic DNA. Polymorphisms for glutathione S-transferase P1 (GSTP1), endothelial nitric oxide synthase (eNOS), and lipoprotein lipase (LPL) genes were detected by a combination of polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) assays, using appropriate restriction enzymes as described pre- viously [16,23,29]. The primers used (forward and reverse) for the polymorphic loci are shown inTable I. ...
To evaluate the maternal, paternal, and fetal genotype contribution to preeclampsia. STUDY DESIGN, MATERIALS, AND METHODS: We combined the analysis of polymorphisms of the GSTP1, eNOS, and LPL genes - affecting biotransformation enzymes and endothelial function - in a cohort of 167 preeclamptic and normal control trios (mother, father, and child) comprising a total of 501 samples in the Greek population, never analyzed before by this approach.
For the frequency of the GSTP1 Ile(105)/Val(105), the eNOS Glu298Asp and the LPL-93 polymorphisms, statistically significant differences were found between the two groups. However, the transmission rates of the parental alleles to neonates studied by the transmission disequilibrium test, disclosed no increased rate of transmission to preeclampsia children for the variant alleles of Val(105) GSTP1, 298Asp eNOS, and -93G LPL.
These novel data, suggest that interaction of all three types of genotypes (mother, father and neonate), reveals no effects on the development of preeclampsia, but provide the impetus for further studies to decipher the individual contribution of each genetic parameter of preeclampsia.
... On the other hand, young paternal age seems to influence worse pregnancy outcomes too [6]. Paternal contribution to pre-eclampsia predisposition has been also investigated through molecular studies about GSTP1 polymorphism, which in the normal placenta plays a detoxification role [7]. ...
Our study investigates a possible couple predisposition for pregnancy-related hypertensive disorders (PRHDs).
We selected 350 women with PRHDs and a random control cohort without PRHDs. We analyzed their clinical files and asked them and their partners about clinical information and family history for some common pathologies. Statistical bivariate and multivariate analysis was performed by R, considering significant p<0.05.
Familial history reveals in cases more maternal grandparents hypertension and thrombophilia, and paternal, personal and familial, thrombophilia history than in controls. By multivariate analysis, the occurrence of PRHDs is influenced by stress, maternal BMI, maternal chronic hypertension, pre-pregnancy diabetes mellitus, nulliparity, maternal grandmother and grandfather hypertension; and academic degrees is a protective factor. Selecting only multipara, PRHDs correlate with advanced maternal age, higher maternal BMI, chronic hypertension, longer interpregnancy interval, stress, previous pregnancies affected by PRHDs, and paternal, personal and familial, thrombophilia history. Moreover the multivariate logistic regression models considering parents familial and personal history results are accurate to predict PRHDs with an AUC of 79% in the general population and 82% among multiparous women.
The couple should be evaluated together for PRHDs risk, both parents familial history should be considered in PRHDs screening programs, and further studies are required, in a society continuously changing its characteristics and habits.
Copyright © 2011 International Society for the Study of Hypertension in Pregnancy. Published by Elsevier B.V. All rights reserved.
