High Diagnostic Yield of Genetic Testing in End-Stage Kidney Disease: Insights from a Large Chinese Cohort

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High Diagnostic Yield of Genetic Testing in End-Stage Kidney Disease: Insights from a Large Chinese Cohort

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Co-author 1

Qelger Bao h16@hotmail.es AlloDx Biotech,Shanghai,China Medicine department Shanghai China *

Co-author 2

Dawei Li NA Renji Hospital,Shanghai,China Medicine department Shanghai China -

Co-author 3

Huiqiang Huang huanghuiqiang@allograftdx.com AlloDx Biotech,Shanghai,China Bioinformatic department Shanghai China -

Co-author 4

Haider Cuello Garcia hecuello@stmail.ujs.edu.cn AlloDx Biotech,Shanghai,China Medicine department Shanghai China -

Co-author 5

Sicheng Wu wusicheng@allograftdx.com AlloDx Biotech,Shanghai,China Medicine department Shanghai China -

Co-author 6

Haitao Liu liuhaitao@allograftdx.com AlloDx Biotech,Shanghai,China Medicine department Shanghai China -

Co-author 7

Ning Li NA Shanxi Second Hospital,Taiyuan,China Medicine department Taiyuan China -

Co-author 8

Min Zhang NA Renji Hospital,Shanghai,China Medicine department Shanghai China -

Co-author 9

Tingya Jiang jiangtingya@allograftdx.com AlloDx Biotech,Shanghai,China Medicine department Shanghai China -

Co-author 10

Co-author 11

Co-author 12

Co-author 13

Co-author 14

Co-author 15

Introduction

Although exome sequencing has been widely applied in chronic kidney disease (CKD) research, yielding a genetic diagnosis in approximately 10% of cases, its diagnostic yield and the spectrum of causative genes in the end-stage kidney disease (ESKD) population remain underreported.

Methods

We performed high-throughput genetic testing on a cohort of 1,869 patients with ESKD awaiting kidney transplantation. The pathogenicity of identified variants was assessed according to the American College of Medical Genetics and Genomics (ACMG) standards and guidelines to establish molecular diagnoses. We analyzed the overall diagnostic yield, the distribution of major causative genes, and the prevalence of etiological categories.

Results

A molecular diagnosis was established in 797 of the 1,869 patients, for an overall diagnostic yield of 42.7%. At the single-gene level, PKD1 was the most frequently identified gene (n=145; 7.8% of cohort, 18.2% of diagnosed cases), followed by COL4A4 (n=64; 3.4%, 8.0%), COL4A5 (n=57; 3.1%, 7.2%), COL4A3 (n=45; 2.4%, 5.6%), and CFH (n=37; 2.0%, 4.6%). The primary etiological categories included:

-Alport syndrome (n=218; 11.7% of cohort, 27.3% of diagnosed)

-Thrombotic microangiopathy (TMA), including complement-related diseases (n=198; 10.6%, 24.8%)

-Polycystic kidney disease, predominantly due to PKD1 variants (n=173; 9.3%, 21.7%)

-Focal segmental glomerulosclerosis (FSGS) (n=143; 7.6%, 17.9%)

-Thrombophilia (n=93; 5.0%, 11.7%)

-Hyperoxaluria (n=13; 0.7%, 1.6%)

The remaining diagnoses were distributed among various rare monogenic disorders.

Conclusion

This study demonstrates the high diagnostic yield of genetic evaluation in the ESKD population of china, highlighting its crucial role in establishing a definitive etiology. Association of identified variants with post-transplant outcomes, such as allograft prognosis,donor selection, decision-making regarding the type of transplant surgery and disease recurrence after transplantation, were not analyzed in this study. Future research is warranted to elucidate the clinical utility of genetic diagnosis in kidney transplant recipients, aiming to advance personalized therapy and precision postoperative monitoring.

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