Document Detail

Analysis of genes coding for CD46, CD55, and C4b-binding protein in patients with idiopathic, recurrent, spontaneous pregnancy loss.
MedLine Citation:
PMID:  23508668     Owner:  NLM     Status:  MEDLINE    
Since a tightly regulated complement system is needed for a successful pregnancy, we hypothesized that alterations in complement inhibitors may be associated with idiopathic, recurrent miscarriage. We sequenced all exons coding for three complement inhibitors: C4b-binding protein (C4BP), CD46, and CD55 in 384 childless women with at least two miscarriages that could not be explained by known risk factors. Several alterations were found in C4BPA, of which the R120H, I126T, and the G423T mutations affected the expression level and/or the ability of recombinant C4BP to serve as cofactor for factor I. The only variant in C4BPB was located in the C-terminal part, and did not impair the polymerization of the molecule. Our results identify for the first time alterations in C4BP in women experiencing recurrent miscarriages. We also found four CD46 alterations in individual patients that were not found in healthy controls. One of the rare variants, P324L, showed decreased expression, whereas N213I resulted in deficient protein processing as well as an impaired cofactor activity in the degradation of both C4b and C3b. The identified alterations may result in in vivo consequences and contribute to the disorder but the degree of association must be evaluated in larger cohorts.
Frida C Mohlin; Eric Mercier; Veronique Fremeaux-Bacchi; M Kathryn Liszewski; John P Atkinson; Jean-Christophe Gris; Anna M Blom
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2013-04-23
Journal Detail:
Title:  European journal of immunology     Volume:  43     ISSN:  1521-4141     ISO Abbreviation:  Eur. J. Immunol.     Publication Date:  2013 Jun 
Date Detail:
Created Date:  2013-06-21     Completed Date:  2013-09-06     Revised Date:  2014-06-03    
Medline Journal Info:
Nlm Unique ID:  1273201     Medline TA:  Eur J Immunol     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  1617-29     Citation Subset:  IM    
Copyright Information:
© 2013 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.
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MeSH Terms
Abortion, Habitual / genetics*,  immunology*
Antigens, CD46 / genetics*
Antigens, CD55 / genetics*
Complement C4b-Binding Protein / genetics*
DNA Mutational Analysis
Fibrinogen / metabolism
Mutation / genetics
Polymorphism, Genetic
Grant Support
Reg. No./Substance:
0/Antigens, CD46; 0/Antigens, CD55; 0/Complement C4b-Binding Protein; 9001-32-5/Fibrinogen

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