Recurrent pregnancy failure is associated with a polymorphism in the p53 tumour suppressor gene

Pietrowski, Detlef; Bettendorf, Hertha; Riener, Eva-Katrin; Keck, Christoph; Hefler, Lukas; Huber, Johannes; Tempfer, Clemens

doi:10.1093/humrep/deh696

Cited by 49 publications

(48 citation statements)

References 17 publications

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“…The frequency of homozygous Pro/Pro genotypes was found significantly higher among the women with RPL than the other two groups indicated that p53 codon 72 polymorphism would be expected to play a major role to bring about RPL [22]. In Pietrowski study, an overrepresentation of the Pro allele of the p53 gene in women with idiopathic recurrent miscarriages supports to the theory that p53 has a potential role during pregnancy [27]. On the contrary, the other studies reported an insignificant association between the Pro allele and RPL [24,28].…”

Section: Discussionmentioning

confidence: 75%

See 1 more Smart Citation

p53 codon 72 polymorphism and recurrent pregnancy loss: a meta-analysis

Tang

Zhou

Chan

et al. 2011

J Assist Reprod Genet

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Section: Discussionmentioning

confidence: 75%

“…G1 arrest or the potential to resist apoptosis might be the explanation that Pro/Pro carriers are more associated with RPL than with Arg allele carriers. However, these possible explanations are largely speculative and more studies on how the p53 Pro variant contributes to the complex pathogenesis of RPL is required [27].…”

Section: Discussionmentioning

confidence: 99%

p53 codon 72 polymorphism and recurrent pregnancy loss: a meta-analysis

Tang

Zhou

Chan

et al. 2011

J Assist Reprod Genet

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“…Pietrowski and colleagues (2005) [46] reported an association of the P72 allele and recurrent miscarriages. However, Fang and colleagues (2011) [16] did not find any difference in genotype and allele frequency of TP53 P72 and R72 forms through a case-control study involving women with miscarriages.…”

Section: Discussionmentioning

confidence: 99%

“…This polymorphism seems to increase the chance of miscarriage in healthy women [46]. Thus, it is possible that genes that undergo selection in the TP53 pathway may affect human reproduction [29].…”

Section: Discussionmentioning

confidence: 99%

Maternal SNPs in the p53 Pathway: Risk Factors for Trisomy 21?

et al. 2013

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Abstract. The p53 family and its regulatory pathway play an important role as regulators of developmental processes, limiting the propagation of aneuploid cells. Its dysfunction or imbalance can lead to pathological abnormalities in humans. The aim of this study was to evaluate the effect of maternal polymorphisms TP53 c.215G>C (P72R), TP73 4 c.-30G>A and 14 c.-20C>T, MDM2 c.14+309T>G (SNP309), MDM4 c.753+572C>T and USP7 c.2719-234G>A as risk factors for Down Syndrome (DS) birth. A case-control study was conducted with 263 mothers of DS children and 196 control mothers. The distribution of these genotypic variants was similar between case and control mothers. However, the combined alleles TP53 C and MDM2 G, and TP53 C and USP7 A increased the risk of having offspring with DS (OR = 1.84 and 1.77; 95% CI; P < 0.007 and 0.018, respectively). These results suggest that, although the individual polymorphisms were not associated with DS birth, the effect of the combined genotypes among TP53, MDM2 and USP7 genes indicates a possible role of TP53 and its regulatory pathway as a risk factor for aneuploidy.

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“…Carriership of the TP53 72Pro allele is overrepresented among women with idiopathic recurrent miscarriage [41,87] and in women with recurrent implantation failure after IVF and embryo transfer [45,88]. In the latter study, the pregnancy rates after IVF were reported to be close to 70 % for women with genotypes containing at least one 72Arg allele (Arg/ Arg or Pro/Arg) vs. 33 % for women with homozygous Pro/Pro genotypes; the embryo implantation rates were 33 % for women with 72Arg-containing genotypes vs. 7 % for women with Pro/Pro genotypes; and ongoing pregnancy rates were 53 % for women with 72Arg-containing genotypes vs. 14 % for women with Pro/ Pro genotypes.…”

Section: Reproductive Outcomes and Individual Repair Capacitymentioning

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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Recurrent pregnancy failure is associated with a polymorphism in the p53 tumour suppressor gene

Abstract: Our results indicate an over-representation of the Pro allele of the p53 gene in women with IRM, giving support to the theory that p53 has a potential role during pregnancy.

Cited by 49 publications

References 17 publications

p53 codon 72 polymorphism and recurrent pregnancy loss: a meta-analysis

p53 codon 72 polymorphism and recurrent pregnancy loss: a meta-analysis

Maternal SNPs in the p53 Pathway: Risk Factors for Trisomy 21?

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

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