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

被引:1
作者
Aghamir, Seyed Mohammad Kazem [1 ]
Roudgari, Hassan [2 ,3 ]
Heidari, Hassan [1 ]
Salimi Asl, Mohammad [1 ]
Jafari Abarghan, Yousef [4 ]
Soleimani, Venous [1 ]
Mashhadi, Rahil [1 ]
Khatami, Fatemeh [1 ,5 ]
机构
[1] Univ Tehran Med Sci, Urol Res Ctr, P94V 8MF, Tehran, Iran
[2] Shahid Beheshti Univ Med Sci SBMU, Genom Res Ctr GRC, Tehran 1416634793, Iran
[3] Univ Aberdeen, Med Sch, Dept Appl Med, Aberdeen AB24 3FX, Scotland
[4] Mashhad Univ Med Sci, Fac Med, Dept Mol Genet, Mashhad 1696700, Iran
[5] Sina Hosp, Urol Res Ctr, Hassan Abad Sq,Imam Khomeini Ave, Tehran 1136746911, Iran
关键词
whole-exome sequencing; single nucleotide polymorphisms; kidney transplant; exonic; intronic; ASSOCIATION; ASPORIN; GENE; POLYMORPHISMS; ADIPONECTIN; PROTEIN; BIOMARKERS; REJECTION; LEPTIN; FAMILY;
D O I
10.3390/genes14061251
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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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页数:13
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