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2023 ACMG Annual Clinical Genetics Meeting Digital ...
The Influence of Monogenic Kidney Disorders on the ...
The Influence of Monogenic Kidney Disorders on the Risk of Kidney Transplant Rejection
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Pdf Summary
This study aimed to investigate whether monogenic kidney disorders are associated with an increased risk of kidney transplant rejection. The researchers analyzed data from 560 kidney transplant recipients who underwent both genetic testing and transplant rejection monitoring using the Prospera TM test.<br /><br />The results showed that 16.7% of the recipients had monogenic causes of kidney disease. The most common genetic diagnoses were Alport syndrome, cystic kidney disease, and focal segmental glomerulosclerosis (FSGS). Additionally, 8.8% of recipients had APOL1 positive findings, and the remaining 74.5% had negative genetic findings.<br /><br />The researchers found that 30% of all recipients had at least one high-risk result for transplant rejection based on the dd-cfDNA (donor-derived-cell free DNA) test. When comparing the dd-cfDNA levels among different genetic groups, there were no significant differences in the medians of the highest dd-cfDNA fraction test results. This suggested that there was no elevated risk of rejection among recipients with monogenic genetic findings or APOL1 findings compared to those with negative genetic findings.<br /><br />Although no clear associations were found in this study, several factors could have influenced the results, such as the small cohort size, variable intervals of dd-cfDNA testing, and other confounding variables. The researchers suggest that further studies examining specific genetic diagnoses and using more detailed longitudinal data may provide more meaningful associations with dd-cfDNA test findings and shed light on the risk of kidney transplant rejection.
Asset Subtitle
Submitter Only - Nour Baddar, PhD; Co-Author - Jing Xie, PhD; Presenting Author - Sumit Punj, PhD, FACMG; Co-Author - Philippe Gauthier, MD, MBA; Co-Author - Hossein Tabriziani, MD, FACP, FASN; Co-Author - Matt Moyer, MS; Co-Author - Lisa Vincent, PhD, FACMG;
Meta Tag
Genetic Testing
NextGen Sequencing
Transplantation
Variant Detection
Co-Author
Jing Xie, PhD
Co-Author
Philippe Gauthier, MD, MBA
Co-Author
Hossein Tabriziani, MD, FACP, FASN
Co-Author
Matt Moyer, MS
Co-Author
Lisa Vincent, PhD, FACMG
Presenting Author
Sumit Punj, PhD, FACMG
Submitter Only
Nour Baddar, PhD
Keywords
monogenic kidney disorders
kidney transplant rejection
genetic testing
Prospera TM test
Alport syndrome
cystic kidney disease
focal segmental glomerulosclerosis
APOL1 positive findings
dd-cfDNA test
transplant rejection risk
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