Genetic polymorphisms in DNA repair gene APE1, XRCC1 and XPD and the risk of pre-eclampsia

Vural, Pervin; Değirmencioğlu, Sevgin; Doğru‐Abbasoğlu, Semra; Saral, Neslihan Yıldırım; Akgül, Cemil; Uysal, Müjdat

doi:10.1016/j.ejogrb.2009.06.007

Cited by 19 publications

(19 citation statements)

References 41 publications

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“…Vural et al [38] evaluate polymorphisms in APEX1 , XRCC1 and XPD in a Turkish population. Although they report that none of the studied polymorphisms has been associated with the risk of PE, they suggest that their results need to be taken as preliminaries due to relatively small sample size.…”

Section: Resultsmentioning

confidence: 99%

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Polymorphisms in DNA Repair Genes (APEX1, XPD, XRCC1 and XRCC3) and Risk of Preeclampsia in a Mexican Mestizo Population

Sandoval-Carrillo

Méndez-Hernández²,

Vazquez-Alaniz³

et al. 2014

IJMS

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Variations in genes involved in DNA repair systems have been proposed as risk factors for the development of preeclampsia (PE). We conducted a case-control study to investigate the association of Human apurinic/apyrimidinic (AP) endonuclease (APEX1) Asp148Glu (rs1130409), Xeroderma Pigmentosum group D (XPD) Lys751Gln (rs13181), X-ray repair cross-complementing group 1 (XRCC) Arg399Gln (rs25487) and X-ray repair cross-complementing group 3 (XRCC3) Thr241Met (rs861539) polymorphisms with PE in a Mexican population. Samples of 202 cases and 350 controls were genotyped using RTPCR. Association analyses based on a χ2 test and binary logistic regression were performed to determine the odds ratio (OR) and a 95% confidence interval (95% CI) for each polymorphism. The allelic frequencies of APEX1 Asp148Glu polymorphism showed statistical significant differences between preeclamptic and normal women (p = 0.036). Although neither of the polymorphisms proved to be a risk factor for the disease, the APEX1 Asp148Glu polymorphism showed a tendency of association (OR: 1.74, 95% CI = 0.96–3.14) and a significant trend (p for trend = 0.048). A subgroup analyses revealed differences in the allelic frequencies of APEX1 Asp148Glu polymorphism between women with mild preeclampsia and severe preeclampsia (p = 0.035). In conclusion, our results reveal no association between XPD Lys751Gln, XRCC Arg399Gln and XRCC3 Thr241Met polymorphisms and the risk of PE in a Mexican mestizo population; however, the results in the APEX1 Asp148Glu polymorphism suggest the need for future studies using a larger sample size.

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Section: Resultsmentioning

confidence: 99%

“…At date, very few studies analyze the possible association between this polymorphisms and risk of preeclampsia [37,38]. In the present study we aimed to investigate the association between APEX1 Asp148Glu, XPD Lys751Gln, XRCC1 Arg399Gln and XRCC3 Thr241Met polymorphisms and the risk of preeclampsia in a Mexican population.…”

Section: Introductionmentioning

confidence: 96%

Polymorphisms in DNA Repair Genes (APEX1, XPD, XRCC1 and XRCC3) and Risk of Preeclampsia in a Mexican Mestizo Population

Sandoval-Carrillo

Méndez-Hernández²,

Vazquez-Alaniz³

et al. 2014

IJMS

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“…Previous investigations found that the frequency distribution of 399Gln allele significantly varied in different ethnicities. Among Asian population, 22%∼28% had at least one copy of the variant allele XRCC1 399Gln [9]–[10], [29]–[30], while among Caucasian, Turkish, and other ethnic populations, the frequencies were 28%∼43% [11], [13], [31]–[33]. This may lead to XRCC1 Arg399Gln polymorphism genotype distribution disequilibrium when all ethnic populations were pooled together.…”

Section: Discussionmentioning

confidence: 99%

X-Ray Repair Cross-Complementing Group 1 (XRCC1) Genetic Polymorphisms and Risk of Childhood Acute Lymphoblastic Leukemia: A Meta-Analysis

Wang

Yin

et al. 2012

PLoS ONE

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BackgroundRecently, there have been a number of studies on the association between XRCC1 polymorphisms and childhood acute lymphoblastic leukemia (ALL) risk. However, the results of previous reports are inconsistent. Thus, we performed a meta-analysis to clarify the effects of XRCC1 variants on childhood ALL risk.MethodsA meta-analysis was performed to examine the association between XRCC1 polymorphisms (Arg399Gln, Arg194Trp, and Arg280His) and childhood ALL risk. We critically reviewed 7 studies with a total of 880 cases and 1311 controls for Arg399Gln polymorphism, 3 studies with a total of 345 cases and 554 controls for Arg280His polymorphism, and 6 studies with a total of 783 cases and 1180 controls for Arg194Trp polymorphism, respectively. Odds ratio (OR) and its 95% confidence interval (CI) were used.ResultsSignificant association between XRCC1 Arg399Gln polymorphism and childhood ALL risk was observed in total population analyses (ORadditive model = 1.501, 95% CI 1.112–2.026, POR = 0.008; ORdominant model = 1.316, 95% CI = 1.104–1.569, POR = 0.002) and Asian subgroup analyses (ORadditive model = 2.338, 95%CI = 1.254–4.359, POR = 0.008; ORdominant model = 2.108, 95%CI = 1.498–2.967, POR = 0.000). No association was detected in Caucasians, Metizo and mixed populations. Ethnicity was considered as a significant source of heterogeneity in the meta-regression model. For the other two XRCC1 polymorphisms, no association with childhood ALL risk was found.ConclusionsThe meta-analysis results suggested that XRCC1 Arg399Gln polymorphism might be associated with elevated childhood ALL risk among Asian population.

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“…Considering that the placenta is a fetomaternal organ, the role of the maternal IRC in gestation-induced disorders associated with abnormal placentation became object of intensive study. So far, no association has been found between maternal carriership of the common XPD polymorphism XPD Lys751Gln (rs1052559) and the risk for preeclampsia [112,113]. The results of the association studies have been controversial for the common polymorphisms Arg194Trp (rs1799782) and Arg399Gln (rs25487) in the gene coding for the protein XRCC1, a stabilising factor for the major ligase of base excision repair (BER, which is the main mechanism for repair of oxidative damage), with some studies reporting a statistically significant association between XRCC1 Arg399Gln and preeclampsia [114] and other studies failing to observe an association [112,113].…”

Section: Role Of the Individual Repair Capacity In The Constitution Omentioning

confidence: 99%

“…So far, no association has been found between maternal carriership of the common XPD polymorphism XPD Lys751Gln (rs1052559) and the risk for preeclampsia [112,113]. The results of the association studies have been controversial for the common polymorphisms Arg194Trp (rs1799782) and Arg399Gln (rs25487) in the gene coding for the protein XRCC1, a stabilising factor for the major ligase of base excision repair (BER, which is the main mechanism for repair of oxidative damage), with some studies reporting a statistically significant association between XRCC1 Arg399Gln and preeclampsia [114] and other studies failing to observe an association [112,113]. The MTHFR C677T polymorphism has also been implicated in the pathogenesis of preeclampsia [105], but the effects are Reproductive outcomes and individual repair capacity likely to be directly related to the hyperhomocysteinemia and the hypercoagulability associated with carriership of the T allele.…”

Section: Role Of the Individual Repair Capacity In The Constitution Omentioning

confidence: 99%

Reproductive outcomes in pregnant women aged 35 or older: the role of individual repair capacity

Petkova¹,

Dimitrova²,

Zhelev³

et al. 2015

Biodiscovery

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Abbreviations: 8-OH-dG -8-hydroxydeoxyguanosine, AMA -advanced maternal age, AR -assisted reproduction, BER -base excision repair, CDC -US Centre for disease prevention and control, DIC -disseminated intravascular coagulation, DS -Down syndrome, HELLP -haemolysis/elevated liver enzymes/low platelets, ICSI -intracytoplasmic sperm injection, IRC -individual repair capacity, IUGR -intrauterine growth restriction, IUI -intrauterine insemination, IVF -in vitro fertilisation, LIF -leukaemia inhibitory factor, NER -nucleotide excision repair, PCOS -polycystic ovary syndrome, PIH -pregnancy-induced hypertension, ROS -reactive oxygen species, TTD -trichothiodystrophy, w.g. -weeks of gestation, WHO -World Health Organisation, XP -xeroderma pigmentosum. AbstractAt present, childbirth is being progressively postponed until later age. Women aged 35 or older may have to wait longer to conceive than younger women and are more likely to be referred to fertility evaluations, but in a significant proportion a spontaneous conception would be achieved in the timeframe typical of younger women. Pregnancies where mothers are ≥ 35 are associated with more risks for pregnancy loss, chromosomal disease, pregnancy-associated complications, prematurity and low birthweight. These concerns, however, are not uncommon in younger women as well. This puts forward the question whether advanced age per se is the underlying cause for the increased risk for adverse outcomes in older pregnant women, or whether there might be other factors that account for it but do not radically worsen the prospects for favourable outcomes. The individual risks associated with childbirth late in life may stem from maternal genetic background rather than being a simple function of age. There is plenty of preliminary evidence that individual capacity for identification and repair of DNA damage may constitute a major factor in female fertility and fecundity. Subtle deficiencies in the repair capacity may have little to no importance in younger pregnant women but may make a significant difference in older women. The outcomes of pregnancies in women >35 are largely dependent on the prepregnancy health status and the quality of antenatal care, and may not be dramatically different from outcomes in younger women.

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Genetic polymorphisms in DNA repair gene APE1, XRCC1 and XPD and the risk of pre-eclampsia

Cited by 19 publications

References 41 publications

Polymorphisms in DNA Repair Genes (APEX1, XPD, XRCC1 and XRCC3) and Risk of Preeclampsia in a Mexican Mestizo Population

Polymorphisms in DNA Repair Genes (APEX1, XPD, XRCC1 and XRCC3) and Risk of Preeclampsia in a Mexican Mestizo Population

X-Ray Repair Cross-Complementing Group 1 (XRCC1) Genetic Polymorphisms and Risk of Childhood Acute Lymphoblastic Leukemia: A Meta-Analysis

Reproductive outcomes in pregnant women aged 35 or older: the role of individual repair capacity

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