Abstract
BackgroundIdentification of the culprit genes underlying multifactorial diseases is one of the most important current challenges of molecular genetics. While recent advances in genomics research have accelerated the discovery of susceptibility genes, much remains to be learned about the functions of disease-associated genetic variants. Recently, Moore and co-workers identified, in the donor genome, an association between a common genetic variant (rs4730751) in the gene encoding caveolin-1 (CAV1), a major structural component of caveolae, and long-term allograft survival.MethodsFour hundred seventy-five renal recipients consecutively transplanted were included in this study. Donor genomic DNA was extracted and used to genotype CAV1 rs4730751 Single Nucleotide Polymorphism.ResultsPatients receiving a graft carrying CAV1 rs4730751 AA genotype displayed a significant decrease in estimated glomerular filtration rate and a significant increase in serum creatinine in both univariate and multivariate analyzes. Moreover, patients receiving a graft with CAV1 AA genotype significantly developed more interstitial fibrosis lesions on systematic biopsies performed 3 months post-transplantation.ConclusionsGenotyping of CAV1 may be relevant to identify patients at risk of adverse renal transplant outcome.
Highlights
Identification of the culprit genes underlying multifactorial diseases is one of the most important current challenges of molecular genetics
In the per protocol population, patients receiving a graft carrying CAV1 rs4730751 AA genotype displayed a significant decrease in estimated glomerular filtration rate, whereas eGFR remained stable for patients transplanted with a rs4730751 AC or CC graft (Figure 1)
We investigated whether patients harboring the CAV1 rs4730751 AA genotype are at higher risk of chronic allograft dysfunction
Summary
Identification of the culprit genes underlying multifactorial diseases is one of the most important current challenges of molecular genetics. While recent advances in genomics research have accelerated the discovery of susceptibility genes, much remains to be learned about the functions of disease-associated genetic variants. Moore and co-workers identified, in the donor genome, an association between a common genetic variant (rs4730751) in the gene encoding caveolin-1 (CAV1), a major structural component of caveolae, and long-term allograft survival. Most common diseases are complex and result from multiple genetic and environmental factors. The recent advances in genotyping and sequencing technologies have revolutionized our understanding of the genetics of complex traits. More than 2,600 associated common risk alleles have been identified, with convincing associations in about 350 different complex traits [1]. For the vast majority of associated alleles, the identities of causal genes and variants, as well as their function, remain unclear. Renal fibrosis is a central feature of all progressive renal diseases that leads to
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