Polymorphisms in genes related to the complement system and antibody-mediated cardiac allograft rejection

View/ Open
Use this link to cite
http://hdl.handle.net/2183/20575
Except where otherwise noted, this item's license is described as Atribución-NoComercial-SinDerivadas 3.0 España
Collections
- Investigación (FCS) [1284]
Metadata
Show full item recordTitle
Polymorphisms in genes related to the complement system and antibody-mediated cardiac allograft rejectionAuthor(s)
Date
2017-07-15Citation
Marrón-Liñares GM, Núñez L, Crespo-Leiro MG, Barge-Caballero E, Pombo J, Paniagua-Martín MJ, et al. Polymorphisms in genes related to the complement system and antibody-mediated cardiac allograft rejection. J Heart Lung Transplant. 2018;37(4):477-485
Abstract
[Abstract] Background. Heart transplantation (HT) is a life-saving treatment for patients with end-stage heart failure. One of the main problems after HT is the humoral response termed antibody-mediated rejection (AMR). Complement activation plays a key role in AMR contributing to graft damage. The aim of this study was to analyze genetic variants in genes related to the complement pathways that could be associated with the development of AMR.
Methods. Analysis of 51 genes related to the complement pathway was performed by next-generation sequencing in 46 HT recipients, 23 with and 23 without AMR. Statistical analysis was performed with SNPstats and R.
Results. We identified 2 single nucleotide polymorphisms, 1 in the mannose-binding lectin 2 gene (p.Gly54Asp-MBL2) and 1 in the complement factor properdin gene (p.Asn428(p=)-CFP), that showed significant association with the absence and development of AMR, respectively. Moreover, the presence of the rare allele in p.Gly54Asp-MBL2 control patients correlated with an immunodeficiency of mannose-binding lectin (6.24 ng/ml vs 207.50 ng/ml, p < 0.01), whereas the presence of the rare allele p.Asn428(p=)-CFP in patients with AMR correlated with higher levels of properdin protein (14.65 μg/ml vs 10.77 μg/ml, p < 0.05).
Conclusions. AMR is a complex phenotype affected by many recipient factors. Variants in p.Gly54Asp-MBL2 and p.Asn428(p=)-CFP genes, encoding mannose-binding lectin 2 and properdin, may influence the risk of AMR.
Keywords
Complement genes
Antobody-mediated rejection
Heart transplantation
Mannose binding lectin
Properdin
Antobody-mediated rejection
Heart transplantation
Mannose binding lectin
Properdin
Editor version
Rights
Atribución-NoComercial-SinDerivadas 3.0 España © International Society for Heart and Lung Transplantation
ISSN
1053-2498
1557-3117
1557-3117