Document Detail


A case-control study of membrane cofactor protein mutations in two populations of patients with early pregnancy loss.
MedLine Citation:
PMID:  21840606     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Mouse models have demonstrated a strong link between complement activation and pregnancy loss. The purpose of this study was to assess if mutations or polymorphisms in the complement regulatory gene membrane cofactor protein (MCP) are associated with recurrent miscarriage (RM) or sporadic fetal loss (FL). This was a case-control study comprising two different populations of cases and controls: subjects with recurrent miscarriage (RM) and controls and maternal-fetal pairs with early fetal loss (at 10-20 weeks' gestation) and controls. In the RM cases and controls, we studied maternal DNA extracted from either whole blood or saliva samples. In the FL cases and controls, fetal DNA was obtained from evacuated products of conception (cases) or cord blood (controls). Exons from the MCP gene, previously identified as having functional mutations, were amplified with flanking primers, purified, and sequenced. Sequences were analyzed against the published reference sequence, the presence of known mutations and polymorphisms and novel polymorphisms. We enrolled and obtained maternal DNA from 75 women with RM and 115 controls. In the FL group, we identified 33 cases and 37 controls. We detected the previously described A304V variant, but neither genotype nor allele frequencies differed significantly between cases and controls in any of the populations (RM, FL (maternal) or FL (fetal)). Although other variants and mutations in MCP were identified, no significant differences were found between the groups. Thus, we conclude that the A304V mutation in the MCP gene is not strongly associated with RM or FL.
Authors:
Cara C Heuser; Alexandra G Eller; Jennifer Warren; D Ware Branch; Jane Salmon; Robert M Silver
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Publication Detail:
Type:  Clinical Trial; Journal Article     Date:  2011-08-15
Journal Detail:
Title:  Journal of reproductive immunology     Volume:  91     ISSN:  1872-7603     ISO Abbreviation:  J. Reprod. Immunol.     Publication Date:  2011 Sep 
Date Detail:
Created Date:  2011-09-07     Completed Date:  2011-12-30     Revised Date:  2012-10-09    
Medline Journal Info:
Nlm Unique ID:  8001906     Medline TA:  J Reprod Immunol     Country:  Ireland    
Other Details:
Languages:  eng     Pagination:  71-5     Citation Subset:  IM    
Copyright Information:
Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.
Affiliation:
University of Utah Department of Obstetrics and Gynecology, Salt Lake City, UT 84132, USA. Cara.heuser@utah.edu
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MeSH Terms
Descriptor/Qualifier:
Abortion, Habitual / genetics*
Adult
Amino Acid Substitution*
Animals
Antigens, CD46 / genetics*
Case-Control Studies
Embryo Loss / genetics*
Exons / genetics*
Female
Humans
Mice
Mutation, Missense*
Polymorphism, Genetic
Pregnancy
Grant Support
ID/Acronym/Agency:
R01 AR049772/AR/NIAMS NIH HHS
Chemical
Reg. No./Substance:
0/Antigens, CD46; 0/CD46 protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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