Contribution of fetal ANXA5 gene promoter polymorphisms to the onset of pre-eclampsia

Ota, Sayuri; Miyamura, Hironori; Nishizawa, Haruki; Inagaki, Hidehito; Inagaki, Asako; Inuzuka, H.; Suzuki, Manami; Miyazaki, Junichi; Sekiya, Takao; Udagawa, Yasuhiro; Kurahashi, Hiroki

doi:10.1016/j.placenta.2013.09.010

Cited by 26 publications

(49 citation statements)

References 40 publications

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“…Furthermore, haplotypes for COL4A3 in the mother and for IGF2 and IL2 in the foetus were associated with preterm labour/delivery (25). Similar findings were reported by Ota et al (26) and Roberts and Cooper (27), with these studies demonstrating a foetal-maternal interaction in the aetiology of preeclampsia. In pregnancy the interaction between maternal and foetal genetic backgrounds may also influence a polymorphism-pathology association and increase sPTB susceptibility independently or synergistically.…”

Section: Jnk/casp3 --------------------------------------------------supporting

confidence: 86%

Induction of the apoptotic pathway by oxidative stress in spontaneous preterm birth: Single nucleotide polymorphisms, maternal lifestyle factors and health status

et al. 2018

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Abstract. The purpose of the present study was to search for associations between spontaneous preterm birth (sPTB), single nucleotide polymorphisms (SNPs) associated with the apoptotic pathway as triggered by oxidative stress, maternal lifestyle and health status. SNP genotyping [rs7560 for c-Jun N-terminal kinase (JNK), rs9517320 for mammalian STE20-like protein kinase 3 (MST3), rs1049216 for caspase 3 (CASP3)] in the placenta and maternal blood of 300 controls with at-term birth and 43 cases of sPTB was performed. No association was identified in genotype frequencies or combinations of foetal/maternal genotypes between single SNPs and sPTB. The risk of sPTB was significantly reduced by physical activity and significantly increased by current hypertensive diseases, premature rupture of membranes (PROM) or preterm PROM (P-PROM) and previous sPTB. The TT/GA genotype of JNK/CASP3 in maternal blood and maternal health status (current hypertensive diseases, current PROM/ P-PROM, previous sPTB) were independently associated with sPTB. The present findings suggested that, independently of other maternal factors, pregnant women carrying the TT/GA genotype of JNK/CASP3 were more susceptible to sPTB than women bearing the GT/GA (our reference) genotype; that the apoptotic pathway triggered by oxidative stress was involved; and that genetic and non-genetic factors contributed to sPTB. Knowledge of these aspects may aid to improve the management of pregnancies by indicating the lifestyle to be adopted on the basis of sPTB susceptibility.

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Section: Jnk/casp3 --------------------------------------------------supporting

confidence: 86%

Induction of the apoptotic pathway by oxidative stress in spontaneous preterm birth: Single nucleotide polymorphisms, maternal lifestyle factors and health status

et al. 2018

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“…Available evidence demonstrated that M2 haplotype significantly lowers the expression of ANXA5 in a reporter gene assay [14,16]. The reduction of M2/ANXA5 mRNA [17,18] and its protein levels were further confirmed in thrombophilia-associated placental complication cases [19].…”

Section: Introductionmentioning

confidence: 84%

“…However, the criteria for RPL subjects varied slightly between the studies such as the definition of RPL and categories of embryonic development. In addition to available evidence supporting reduced expression of ANXA5 in chorionic placenta of RPL women, who were M2/ANXA5 carriers [18,19], the male M2/ANXA5 carriers in RPL couples also showed a rather similar risk that would corroborate impeded embryonic anticoagulant function [5,[21][22][23].…”

Section: Introductionmentioning

confidence: 99%

Genetic analysis of the M2/ANXA5 haplotype as recurrent pregnancy loss predisposition in the Malay population

Ang

Kathirgamanathan

Ch’ng

et al. 2017

J Assist Reprod Genet

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Purpose The aim of this study was to evaluate a new predisposition factor, M2/ANXA5 (RPRGL3), in recurrent pregnancy loss (RPL) patients of Malay origin, since it was previously known that the prevalence of this condition is relatively high among the Malay population of Malaysia, where conventional hereditary thrombophilia factors have been generally ruled out. Methods A total of 232 women who had experienced ≥2 unexplained RPL and 141 available male partners were recruited, with 360 healthy Malay and 166 parous female controls. Prevalence of M2 carriage and RPL odds ratios were calculated in (a) control and patient groups; (b) clinically defined subgroups in categories of pregnancy loss, primary, secondary, and tertiary; and (c) timing of pregnancy loss in early, ≤15th gestation week and Blate^fetal losses, and >15th gestation week subgroups.Results Both male and female subjects had similar M2/ ANXA5 allele frequencies. The carrier rate of M2/ANXA5 for the general Malay population was 42.2 and 34.9% for parous controls. These carrier rates compared to Malay RPL subjects (52% M2 carriers) resulted in elevated odds ratios (95% confidence interval) of 1.53 (1.1 to 2.1) and 1.97 (1.3 to 3.1) accordingly for early fetal losses. Moreover, exceeding copy numbers of M2/ANXA5 alleles seemed to afflict a greater chance of RPL in couples, especially when both partners were M2 carriers. Conclusion This study confirmed the proposed role of M2/ ANXA5 as embryonic, genetically associated thrombophilia predisposition factor for early RPL among ethnic Malay of Malaysia.Keywords Annexin A5 . M2/ANXA5 . Recurrent pregnancy loss (RPL) . MiscarriageElectronic supplementary material The online version of this article

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“…It was concluded that the ANXA5 promoter haplotypes may determine the variability of ANXA5 plasma levels in healthy subjects, although additional studies are needed to add clear evidences on clinical influence of circulating annexin A5 levels. In another study, a correlation between the expression levels of ANXA5 in placenta and the M2 haplotype was reported [12].…”

Section: Introductionmentioning

confidence: 92%

“…Two additional SNPs in the ANXA5 promoter have been reported; rs62319820 (c.-628C NT) [11] and rs1050606 (c.-302T NG) [13]. The former SNP has been tightly linked to the M1 haplotype [11], whereas the latter SNP has been suggested as a new risk factor for pregnancy loss in a Japanese population, an association that was found to be independent of the M2 haplotype [12]. Lately, combinations of the M2 haplotype and c.-302G and of the M1 haplotype and the c.-302G and c.-628T SNPs were defined as H3 and H4 haplotypes, respectively [14].…”

Section: Introductionmentioning

confidence: 99%

Functional characterization of annexin A5 gene promoter allelic variants

Tiscia

Dørum

Myklebust

et al. 2016

Thrombosis Research

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Contribution of fetal ANXA5 gene promoter polymorphisms to the onset of pre-eclampsia

Cited by 26 publications

References 40 publications

Induction of the apoptotic pathway by oxidative stress in spontaneous preterm birth: Single nucleotide polymorphisms, maternal lifestyle factors and health status

Induction of the apoptotic pathway by oxidative stress in spontaneous preterm birth: Single nucleotide polymorphisms, maternal lifestyle factors and health status

Genetic analysis of the M2/ANXA5 haplotype as recurrent pregnancy loss predisposition in the Malay population

Functional characterization of annexin A5 gene promoter allelic variants

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