A woman with five consecutive fetal deaths: Case report and retrospective analysis of hyperhomocysteinemia prevalence in 100 consecutive women with recurrent miscarriages

Quéré, I.; Bellet, H.; Hoffet, M.; Janbon, C; Marès, P.; Gris, Jean‐Christophe

doi:10.1016/s0015-0282(97)00451-2

Cited by 84 publications

(42 citation statements)

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“…The risk of pregnancy failure was significantly elevated only in carriers of the homozygous variant of both SNPs (677T/T and 1298C/C) and, interestingly, was seen in patients experiencing late (C677T) and combined early-late (C677T and A1298C), but not exclusively early miscarriages. This was in accord with earlier studies (Nelen et al 1997, 1998, Lissak et al 1999, which reported on the association of MTHFR 677T/T (acting through elevation of tHcy) with idiopathic RPL (Gris et al 1999), more so with late than for first trimester abortions. Others failed to establish an association between MTHFR 677T/T genotype and idiopathic RPL (Kutteh et al 1999, Carp et al 2002, while others suggested that homozygosity for MTHFR C677T induced pregnancy loss only if present with other prothrombotic factors (Sarig et al 2002).…”

Section: Discussionsupporting

confidence: 92%

“…Insofar as they were implicated in pregnancy complications, including recurrent idiopathic RPLs (Nelen et al 1997, Quere et al 1998, Sarig et al 2002, we investigated the association of MTHFR C677T and A1298C SNPs and hyperhomocysteinemia in women with idiopathic RPL. As patients and controls were matched for several risk factors (older age, smoking, obesity and use of oral contraceptives), results obtained showed that RPL patients had a higher prevalence of both MTHFR SNPs as compared with otherwise healthy control parous women.…”

Section: Discussionmentioning

confidence: 99%

“…While MTHFR C677T and A1298C SNPs were implicated in several pregnancy-related complications, including placental anomalies (Van der Molen et al 2000), pre-eclampsia (Lachmeijer et al 2001, Murakami et al 2001 and RPL (Nelen et al 1997, Quere et al 1998Sarig et al 2002, the association of a particular mutation in diseased populations may be influenced by a number of environmental or genetic risk factors. Accordingly, the significance of the mutation may be overestimated.…”

Section: Discussionmentioning

confidence: 99%

“…This was highlighted by the findings that the prevalence of homozygous variants of both SNPs was higher among women with more than three idiopathic RPLs (Nelen et al 1997, Quere et al 1998, Sarig et al 2002. Hyperhomocysteinemia caused by MTHFR mutations or folate deficiency was associated with placental abruption or infarction (Van der Molen et al 2000), pre-eclampsia (Lachmeijer et al 2001, Murakami et al 2001, pregnancy-associated hypertension (Kosmas et al 2004) and RPL (Nelen et al 2000a, Unfried et al 2002.…”

Section: Introductionmentioning

confidence: 99%

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Methylenetetrahydrofolate reductase C677T and A1298C polymorphism and changes in homocysteine concentrations in women with idiopathic recurrent pregnancy losses

Mtiraoui¹,

Zammiti²,

Ghazouani³

et al. 2006

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Because they have been described as strong risk factors for idiopathic recurrent pregnancy losses (RPLs), we assessed the association between the methylenetetrahydrofolate reductase (MTHFR) single-nucleotide polymorphisms (SNPs) C677T and A1298C and hyperhomocysteinemia in Tunisian women with idiopathic RPL. Study subjects comprised 200 patients with more than three consecutive RPLs, and 200 age-matched parous control women. C677T and A1298C SNPs were analyzed by PCR-RFLP analysis, and fasting serum homocysteine was measured with ELISA. The frequency of MTHFR 677T/T (30.0 vs 7.0%) and 1298C/C (13.5 vs 4.0%) genotypes was significantly higher in patients. While it was similar among patients and controls (P 5 0.095), higher homocysteine was seen with the T/T (but not 1298A/C and 1298C/C) genotype among patients and controls compared with non-T/T carriers (P < 0.05), and in patients vs controls. Higher prevalence of MTHFR 677T/T was seen in late (P < 0.05) and early-late (P < 0.001) RPL, while higher prevalence of 1298C/C genotype was seen only in earlylate RPL (P < 0.001), and the prevalence of double heterozygotes was statistically not significant between patients and controls (P 5 0.10; odds ratio 5 2.73). Logistic regression analysis showed that, after adjusting for all variables, homozygosity for MTHFR C677T was associated with late (P < 0.001), and combined early-late (P < 0.001), while homozygosity for A1298C was associated only with combined early-late (P 5 0.026), as was secondary-level education, which was associated with early (P 5 0.005), late (P 5 0.026) and combined early-late (P 5 0.004) abortions. Homozygosity for MTHFR C677T (late and early-late) and A1298C (early-late) are risk factor for RPLs, irrespectively of total homocysteine levels.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Methylenetetrahydrofolate reductase C677T and A1298C polymorphism and changes in homocysteine concentrations in women with idiopathic recurrent pregnancy losses

Mtiraoui¹,

Zammiti²,

Ghazouani³

et al. 2006

Reproduction

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“…A meta-analysis reported a 3-to 4-fold increased risk of recurrent early pregnancy loss in women with hyperhomocysteinaemia ). Other studies have also described a high prevalence of hyperhomocysteinaemia in women with recurrent pregnancy loss (Quere et al, 1998;Nelen et al (b), 2000;Coumans et al, 1999). …”

Section: Methylenetetrahydrofolate Reductase Deficiency and Hyperhomomentioning

confidence: 94%

Inherited and Acquired Thrombophilia in Pregnancy

Dawood¹

2011

Thrombophilia

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Absence of association between a common mutation in the methylenetetrahydrofolate reductase gene and preeclampsia in Japanese women

et al. 2000

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An association between preeclampsia (PE) and a common missense mutation of the methylenetetrahydrofolate reductase gene (MTHFR), a C to T substitution at nucleotide 677 (C677T), which converts an alanine to a valine residue, has been reported in Italian and Japanese populations. We examined 101 cases of hypertension in pregnancy (HP), including 73 cases of PE, and 215 normal pregnancy controls to confirm the association in Japanese women. No significant differences of the frequency of the T677 allele frequency or percentage of T677 homozygotes were detected among the various types of cases: HP (0.38, 12%, respectively), severe HP (0. 40, 12%), PE (0.38, 11%), severe PE (0.41, 11%), primiparous HP (0. 40, 12%), primiparous PE (0.44, 18%), nonelderly HP (0.39, 13%), nonelderly PE (0.40, 14%), nonobese HP (0.38, 12%), nonobese PE (0. 39, 10%), HP without homozygous T235 of the angiotensinogen gene (TT of AGT) (0.38, 15%), PE without TT of AGT (0.38, 15%), and controls (0.38, 15%). The results indicate that T677 of MTHFR may not be a risk factor for PE in Japanese population.

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A woman with five consecutive fetal deaths: Case report and retrospective analysis of hyperhomocysteinemia prevalence in 100 consecutive women with recurrent miscarriages

Cited by 84 publications

References 3 publications

Methylenetetrahydrofolate reductase C677T and A1298C polymorphism and changes in homocysteine concentrations in women with idiopathic recurrent pregnancy losses

Methylenetetrahydrofolate reductase C677T and A1298C polymorphism and changes in homocysteine concentrations in women with idiopathic recurrent pregnancy losses

Inherited and Acquired Thrombophilia in Pregnancy

Absence of association between a common mutation in the methylenetetrahydrofolate reductase gene and preeclampsia in Japanese women

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