APCR, factor V gene known and novel SNPs and adverse pregnancy outcomes in an Irish cohort of pregnant women

Sedano-Balbás, Sara; Lyons, Mark; Cleary, Brendan; Murray, Margaret; Gaffney, G; Maher, Majella

doi:10.1186/1471-2393-10-11

Cited by 8 publications

(7 citation statements)

References 68 publications

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“…In this study, we identified thrombophilic mutations in 66% of our positive APCR (acquired plus inherited) group ( n = 140). One of those subjects had 2 mutations in the FV gene, FVL and FV Cambridge-G1091C, at two cleavages sites of FV for APC [21]. This subject was also found in this study to be a carrier of MTHFR-C677T mutation.…”

Section: Discussionsupporting

confidence: 61%

“…DNA probe hybridisation analysis and/or DNA sequencing was applied for Arg 679 detection as described [21]. One hundred and forty APCR-positive subjects and 31 APCR-negative subjects were tested for all mutations.…”

Section: Methodsmentioning

confidence: 99%

“…In a previous study in this laboratory, we identified known and novel SNPs in a small number of subjects with APCR determined using the modified Coatest test which did not have the FVL mutation [ 21 ].…”

Section: Introductionmentioning

confidence: 99%

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Acquired Activated Protein C Resistance, Thrombophilia and Adverse Pregnancy Outcomes: A Study Performed in an Irish Cohort of Pregnant Women

Sedano-Balbás

Lyons

Cleary

et al. 2011

Journal of Pregnancy

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The combination of thrombophilia and pregnancy increases the risk of thrombosis and the potential for adverse outcomes during pregnancy. The most significant common inherited risk factor for thrombophilia is activated protein C resistance (APCR), a poor anticoagulant response of APC in haemostasis, which is mainly caused by an inherited single-nucleotide polymorphism (SNP), factor V G1691A (FV Leiden) (FVL), referred as inherited APCR. Changes in the levels of coagulation factors: FV, FVIII, and FIX, and anticoagulant factors: protein S (PS) and protein C (PC) can alter APC function causing acquired APCR. Prothrombin G20210A and methylenetetrahydrofolate reductase (MTHFR) C677T are prothrombotic SNPs which in association with APCR can also increase the risk of thrombosis amongst Caucasians. In this study, a correlation between an acquired APCR phenotype and increased levels of factors V, VIII, and IX was demonstrated. Thrombophilic mutations amongst our acquired APCR pregnant women cohort are relatively common but do not appear to exert a severe undue adverse effect on pregnancy.

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Section: Discussionsupporting

confidence: 61%

Section: Methodsmentioning

confidence: 99%

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Acquired Activated Protein C Resistance, Thrombophilia and Adverse Pregnancy Outcomes: A Study Performed in an Irish Cohort of Pregnant Women

Sedano-Balbás

Lyons

Cleary

et al. 2011

Journal of Pregnancy

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“…Space limitations prevented us from more detailed reporting of the methods and results of our systematic review. We are familiar with the study by Kjellberg et al ., as it was one of the seven full‐text articles that were retrieved in the systematic review process. Their report was independently assessed by two reviewers (M.R.…”

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confidence: 99%

Is thrombophilia associated with placenta‐mediated pregnancy complications? A prospective cohort study: reply

Rodger

Langlois

2015

Journal of Thrombosis and Haemostasis

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We thank Drs Kjellberg and Hellgren for their letter and for pointing our that the results of their study are consistent with our findings. Space limitations prevented us from more detailed reporting of the methods and results of our systematic review. We are familiar with the study by Kjellberg et al., as it was one of the seven full-text articles [1][2][3][4][5][6][7] that were retrieved in the systematic review process. Their report was independently assessed by two reviewers (M.R. and N.L.) and then discussed, leading to the conclusion that the study was not eligible, owing to its design. That is, the 'case-cohort' design did not meet the first of three eligibility criteria that were established a priori for our meta-analysis; studies had to enroll unselected pregnant women in the first or second trimester of pregnancy. Although 6003 women were screened for their study, 'every fifth woman who tested negative for activated protein C resistance was selected as a control'.Although this study could not be included in our formal meta-analysis, we agree with the comments of Kjellberg and Hellgren that the consistency of the findings between their study and ours lends additional support for the conclusion that an association does not exist between the factor V Leiden mutation or the prothrombin gene mutation and placenta-mediated pregnancy complications.It is also worth pointing out that the proportion of small-for-gestational-age children is a more clinically relevant outcome than mean differences in birth weight between exposed and unexposed groups. One could imagine scenarios where there are no mean differences between two exposed groups, yet the exposure leads to severe small for gestational age birth in an important proportion of patients without significantly influencing the mean birth weight in the exposed group.

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“…This would have given an opportunity to draw stronger final conclusions. The authors have chosen to add only the results from their new study and the results from one other study with 29 FVL carriers [4]. Addendum U Kjellberg and M Hellgren wrote the letter and approved its submission.…”

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confidence: 99%

Is thrombophilia associated with placenta‐mediated complications? A prospective cohort study: comment

Kjellberg

Hellgren

2015

Journal of Thrombosis and Haemostasis

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SW. Is thrombophilia associated with placenta-mediated pregnancy complications? A prospective cohort study. J Thromb Haemost 2014; 12:469-78 and Rodger MA, Langlois NJ. Is thrombophilia associated with placenta-mediated pregnancy complications? A prospective cohort study: reply. This issue, pp 1536-7We read with great interest the article by Rodger et al.[1], who reported a prospective cohort study on the influences of factor V Leiden (FVL) and prothrombin gene mutation (PGM) on placenta-mediated pregnancy complications. Five hundred and seven women carrying FVL and/or PGM were enrolled in the study, and the authors concluded that carriers of FVL or PGM are not at significantly increased risk of pregnancy complications. The authors claimed that previous prospective cohort studies were too underpowered to detect small differences. However, we wish to draw attention to our prospective cohort study, published in 2010, which concerned placenta-mediated pregnancy complications in 491 women with FVL and 1030 controls [2]. Our power calculation was derived from the lowest incidence of placenta-mediated complications (intrauterine growth retardation, incidence 2.5%), and, at 80% power and a 0.05 significance level, at least 430 cases and 860 controls were needed. We drew the same conclusions as Rodger et al. There were no differences in placenta-mediated complications, such as pre-eclampsia, placental abruption, and intrauterine growth retardation, or in prematurity. We chose to express intrauterine growth retardation as birth weight deviation from a reference material as a percentage, thus obtaining a continuous variable, independent of gestational age and sex, which allowed a powerful statistical analysis. We found no significant difference in birth weight deviation between FVL carriers and controls. This is a more exact method for studying growth retardation than comparing the number of neonates with a birth weight under a certain level.The inclusion of our prospective cohort study would have added valuable data for the updated systematic review and meta-analysis of prospective cohort studies examining the association of FVL and PGM with placenta-mediated pregnancy complications [1,3]. This would have given an opportunity to draw stronger final conclusions. The authors have chosen to add only the results from their new study and the results from one other study with 29 FVL carriers [4]. AddendumU Kjellberg and M Hellgren wrote the letter and approved its submission. Disclosure of Conflict of InterestsThe authors state that they have no conflict of interest.

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APCR, factor V gene known and novel SNPs and adverse pregnancy outcomes in an Irish cohort of pregnant women

Cited by 8 publications

References 68 publications

Acquired Activated Protein C Resistance, Thrombophilia and Adverse Pregnancy Outcomes: A Study Performed in an Irish Cohort of Pregnant Women

Acquired Activated Protein C Resistance, Thrombophilia and Adverse Pregnancy Outcomes: A Study Performed in an Irish Cohort of Pregnant Women

Is thrombophilia associated with placenta‐mediated pregnancy complications? A prospective cohort study: reply

Is thrombophilia associated with placenta‐mediated complications? A prospective cohort study: comment

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