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Whole Exome Sequencing to Find Candidate Variants for the Prediction of Kidney Transplantation Efficacy

Introduction: Kidney transplantation is the optimal treatment strategy for some end-stage renal disease (ESRD); however, graft survival and the success of the transplantation depend on several elements, including the genetics of recipients. In this study, we evaluated exon loci variants based on a h...

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Autores principales: Aghamir, Seyed Mohammad Kazem, Roudgari, Hassan, Heidari, Hassan, Salimi Asl, Mohammad, Jafari Abarghan, Yousef, Soleimani, Venous, Mashhadi, Rahil, Khatami, Fatemeh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10298443/
https://www.ncbi.nlm.nih.gov/pubmed/37372431
http://dx.doi.org/10.3390/genes14061251
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author Aghamir, Seyed Mohammad Kazem
Roudgari, Hassan
Heidari, Hassan
Salimi Asl, Mohammad
Jafari Abarghan, Yousef
Soleimani, Venous
Mashhadi, Rahil
Khatami, Fatemeh
author_facet Aghamir, Seyed Mohammad Kazem
Roudgari, Hassan
Heidari, Hassan
Salimi Asl, Mohammad
Jafari Abarghan, Yousef
Soleimani, Venous
Mashhadi, Rahil
Khatami, Fatemeh
author_sort Aghamir, Seyed Mohammad Kazem
collection PubMed
description Introduction: Kidney transplantation is the optimal treatment strategy for some end-stage renal disease (ESRD); however, graft survival and the success of the transplantation depend on several elements, including the genetics of recipients. In this study, we evaluated exon loci variants based on a high-resolution Next Generation Sequencing (NGS) method. Methods: We evaluated whole-exome sequencing (WES) of transplanted kidney recipients in a prospective study. The study involved a total of 10 patients (5 without a history of rejection and 5 with). About five milliliters of blood were collected for DNA extraction, followed by whole-exome sequencing based on molecular inversion probes (MIPs). Results: Sequencing and variant filtering identified nine pathogenic variants in rejecting patients (low survival). Interestingly, in five patients with successful kidney transplantation, we found 86 SNPs in 63 genes 61 were variants of uncertain significance (VUS), 5 were likely pathogenic, and five were likely benign/benign. The only overlap between rejecting and non-rejecting patients was SNPs rs529922492 in rejecting and rs773542127 in non-rejecting patients’ MUC4 gene. Conclusions: Nine variants of rs779232502, rs3831942, rs564955632, rs529922492, rs762675930, rs569593251, rs192347509, rs548514380, and rs72648913 have roles in short graft survival.
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spelling pubmed-102984432023-06-28 Whole Exome Sequencing to Find Candidate Variants for the Prediction of Kidney Transplantation Efficacy Aghamir, Seyed Mohammad Kazem Roudgari, Hassan Heidari, Hassan Salimi Asl, Mohammad Jafari Abarghan, Yousef Soleimani, Venous Mashhadi, Rahil Khatami, Fatemeh Genes (Basel) Article Introduction: Kidney transplantation is the optimal treatment strategy for some end-stage renal disease (ESRD); however, graft survival and the success of the transplantation depend on several elements, including the genetics of recipients. In this study, we evaluated exon loci variants based on a high-resolution Next Generation Sequencing (NGS) method. Methods: We evaluated whole-exome sequencing (WES) of transplanted kidney recipients in a prospective study. The study involved a total of 10 patients (5 without a history of rejection and 5 with). About five milliliters of blood were collected for DNA extraction, followed by whole-exome sequencing based on molecular inversion probes (MIPs). Results: Sequencing and variant filtering identified nine pathogenic variants in rejecting patients (low survival). Interestingly, in five patients with successful kidney transplantation, we found 86 SNPs in 63 genes 61 were variants of uncertain significance (VUS), 5 were likely pathogenic, and five were likely benign/benign. The only overlap between rejecting and non-rejecting patients was SNPs rs529922492 in rejecting and rs773542127 in non-rejecting patients’ MUC4 gene. Conclusions: Nine variants of rs779232502, rs3831942, rs564955632, rs529922492, rs762675930, rs569593251, rs192347509, rs548514380, and rs72648913 have roles in short graft survival. MDPI 2023-06-11 /pmc/articles/PMC10298443/ /pubmed/37372431 http://dx.doi.org/10.3390/genes14061251 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Aghamir, Seyed Mohammad Kazem
Roudgari, Hassan
Heidari, Hassan
Salimi Asl, Mohammad
Jafari Abarghan, Yousef
Soleimani, Venous
Mashhadi, Rahil
Khatami, Fatemeh
Whole Exome Sequencing to Find Candidate Variants for the Prediction of Kidney Transplantation Efficacy
title Whole Exome Sequencing to Find Candidate Variants for the Prediction of Kidney Transplantation Efficacy
title_full Whole Exome Sequencing to Find Candidate Variants for the Prediction of Kidney Transplantation Efficacy
title_fullStr Whole Exome Sequencing to Find Candidate Variants for the Prediction of Kidney Transplantation Efficacy
title_full_unstemmed Whole Exome Sequencing to Find Candidate Variants for the Prediction of Kidney Transplantation Efficacy
title_short Whole Exome Sequencing to Find Candidate Variants for the Prediction of Kidney Transplantation Efficacy
title_sort whole exome sequencing to find candidate variants for the prediction of kidney transplantation efficacy
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10298443/
https://www.ncbi.nlm.nih.gov/pubmed/37372431
http://dx.doi.org/10.3390/genes14061251
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