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Stepanian A.,Service DHematologie Biologique | Alcais A.,Imagine Institute | Alcais A.,University of Paris Descartes | Alcais A.,Rockefeller University | And 14 more authors.
PLoS ONE | Year: 2014

Preeclampsia is a frequent medical complication during pregnancy. Corin, a serine protease which activates pro-atrial natriuretic peptide, has recently been shown to be involved in the pathophysiology of preeclampsia. The aim of this study was to search for CORIN gene variations and their association to preeclampsia in Caucasian and African women. Our study population was composed of 57 pregnant women (295 with preeclampsia and 276 normotensive controls) matched for maternal and gestational age, and ethnic origin. The 22 exons of the CORIN gene were sequenced in a discovery sample (n=260), where 31 single nucleotide polymorphisms were identified. In a replication sample (n=311), 4 single nucleotide polymorphisms were tested. Two minor alleles (C for rs2271036 and G for rs2271037) were significantly associated to preeclampsia. Adjusted odds ratios [95% confidence interval] were 2.5 [1.2-3.8] (p=0.007) and 2.3 [1.5-3.5] (p=1.3610-4), respectively. These associations were ethnic-specific, as only found in the Caucasian of subjects (odds ratio=3.5 [1.8-6.6], p=1.1×10-4; odds ratio=3.1 [1.7-5.8], p=2.1×10-4, for each single nucleotide polymorphism, respectively). The two single nucleotide polymorphisms are in almost perfect linkage disequilibrium (r250.93). No specific association was found with severe preeclampsia, early-onset preeclampsia nor fetal growth retardation. In conclusion, this is the first report of a highly significant association between these two single nucleotide polymorphisms in CORIN gene and preeclampsia. Our findings further support the probability of a critical role of corin in preeclamspia pathophysiology at the uteroplacental interface. © 2014 Stepanian et al.

Kouamou E.,Service DHematologie Biologique et Transfusion | Stepanian A.,Service DHematologie Biologique et Transfusion | Khadra F.,Service DHematologie Biologique et Transfusion | De Prost D.,Service DHematologie Biologique et Transfusion | Teillet F.,Service DHematologie Biologique et Transfusion
Annales de Biologie Clinique | Year: 2013

A 58-year-old patient, without any notable medical history, except for alcoholism and treated hypertension, developed anemia and leukopenia with macrocytosis. Folate deficiency was diagnosed and subsequently treated. Despite folate supplementation, the hematological parameters did not normalize. Further diagnosis investigations were led to search for uncommon etiologies of anemia and leukoneutropenia. We diagnosed severe copper deficiency on the basis of decreased plasma levels of copper and ceruloplasmin. Copper supplementation improved blood counts within three months. This case illustrates hematological disorders due to copper deficiency, initially masked by an associated folate deficiency. The copper deficiency etiology was not identified in this case.

Anselem O.,Groupe Hospitalier Cochin Broca Hotel Dieu | Anselem O.,University of Paris Descartes | Girard G.,Service de Gynecologie Obstetrique | Girard G.,University Paris Diderot | And 5 more authors.
International Journal of Gynecology and Obstetrics | Year: 2011

Objective: To determine whether ethnic origin is related to the clinical and biologic expression of pre-eclampsia. Methods: In a secondary analysis of information collected in the ECLAXIR study in France between May 2003 and October 2006, the data from 284 white European, 84 Maghrebian and 158 African women were evaluated in a case-control study of the genetic and endothelial determinants of pre-eclampsia. Results: African origin was a risk factor for pre-eclampsia before 28 weeks of gestation. Symptoms related to hypertension, such as neurologic signs and changes in biologic parameters (e.g. hemolysis elevated liver enzymes, low platelet count [HELLP] syndrome), occurred more frequently among white European women. After logistic regression, gestational age at delivery was lower for African women than for white European women (33.4 weeks versus 34.4 weeks of gestation, P = 0.04). Conclusion: The results suggest that ethnic origin may have a role in the expression of pre-eclampsia, and should therefore be taken into account in prenatal surveillance. Further research on the genetic factors involved in endothelial dysfunction is warranted. © 2011 International Federation of Gynecology and Obstetrics.

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