RGD Reference Report - Genetic analysis of membrane cofactor protein (CD46) of the complement system in women with and without preeclamptic pregnancies. - Rat Genome Database

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Genetic analysis of membrane cofactor protein (CD46) of the complement system in women with and without preeclamptic pregnancies.

Authors: Lokki, AI  Aalto-Viljakainen, T  Meri, S  Laivuori, H   
Citation: Lokki AI, etal., PLoS One. 2015 Feb 24;10(2):e0117840. doi: 10.1371/journal.pone.0117840. eCollection 2015.
RGD ID: 11352807
Pubmed: PMID:25710174   (View Abstract at PubMed)
PMCID: PMC4339547   (View Article at PubMed Central)
DOI: DOI:10.1371/journal.pone.0117840   (Journal Full-text)

Preeclampsia is a common disorder of pregnancy characterized by endothelial dysfunction. It may be life-threatening for the mother and fetus in severe cases. Dysregulation of the complement system has been suggested to predispose women to preeclampsia. Complement is part of the innate and adaptive immune systems and potentially capable of causing inflammation and tissue damage. Membrane cofactor protein MCP (CD46) is among the potent complement regulators that have recently been linked to a severe form of preeclampsia with or without an underlying autoimmune phenotype. Mutations in CD46 predispose to thrombotic microangiopathy with endothelial cell dysfunction. The exome of CD46 were sequenced in 95 Finnish women with severe preeclampsia. Genetic variations discovered in the full exome were compared to those observed in 95 control women who did not develop preeclampsia. Because A304V (rs35366573) was associated with preeclampsia in one previous study, we sequenced the transmembrane region including the A304V variant and part of the cytoplasmic tail in 95 additional controls. We did not discover any association between A304V or other CD46 SNPs and preeclampsia. This study describes a carefully characterized cohort of severely preeclamptic Finnish women and found no potentially predisposing variants in CD46. However, it is possible that other genetic components of the complement system may affect the pathogenesis of severe preeclampsia and related diseases.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CD46Humanpre-eclampsia no_associationIAGP DNA:missense mutation:cds:p.A304V (human)RGD 
Cd46Ratpre-eclampsia no_associationISOCD46 (Homo sapiens)DNA:missense mutation:cds:p.A304V (human)RGD 
Cd46Mousepre-eclampsia no_associationISOCD46 (Homo sapiens)DNA:missense mutation:cds:p.A304V (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Cd46  (CD46 molecule)

Genes (Mus musculus)
Cd46  (CD46 antigen, complement regulatory protein)

Genes (Homo sapiens)
CD46  (CD46 molecule)


Additional Information