Jun Y. Zhang
A5065806401- Renal and related cancers
- Renal Diseases and Glomerulopathies
- Pediatric Urology and Nephrology Studies
- Urological Disorders and Treatments
- Renal Transplantation Outcomes and Treatments
- Chronic Kidney Disease and Diabetes
- Diabetes and associated disorders
- Celiac Disease Research and Management
- Genetic Associations and Epidemiology
- Prenatal Screening and Diagnostics
- Birth, Development, and Health
- Digestive system and related health
- Ion Transport and Channel Regulation
- Vasculitis and related conditions
- Hemoglobinopathies and Related Disorders
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Atherosclerosis and Cardiovascular Diseases
- Immunodeficiency and Autoimmune Disorders
- Genetic and Kidney Cyst Diseases
- Cell Adhesion Molecules Research
- Complement system in diseases
- Eosinophilic Esophagitis
- Bipolar Disorder and Treatment
- Metabolism and Genetic Disorders
Columbia University Irving Medical Center
2024
Columbia University
2018-2024
University of Genoa
2023
Istituto Giannina Gaslini
2023
Morgan Stanley Children's Hospital
2023
In the context of kidney transplantation, genomic incompatibilities between donor and recipient may lead to allosensitization against new antigens. We hypothesized that recessive inheritance gene-disrupting variants represent a risk factor for allograft rejection.We performed two-stage genetic association study rejection. first stage, we screen 50 common gene-intersecting deletion polymorphisms in cohort transplant recipients. second replicated our findings three independent cohorts...
Immunoglobulin A (IgA) mediates mucosal responses to food antigens and the intestinal microbiome is involved in susceptibility pathogens, celiac disease, inflammatory bowel IgA nephropathy. We performed a genome-wide association study of serum levels 41,263 individuals diverse ancestries identified 20 significant loci, including 9 known 11 novel loci. Co-localization analyses with expression QTLs prioritized candidate genes for 14 Most loci encoded that produced immune defects abnormalities...
Significance Statement APOL1 high-risk genotypes confer a significant risk of kidney disease, but variability in patient outcomes suggests the presence modifiers effect. We show that diverse population CKD patients with have an increased lifetime failure and higher eGFR decline rates, graded among specific genotypes. lower diagnostic yield for monogenic disease. Exome sequencing revealed enrichment rare missense variants within inflammasome pathway modifying effect genotypes, which may...
Cardiovascular disease, infection, malignancy, and thromboembolism are major causes of morbidity mortality in kidney transplant recipients (KTR). Prospectively identifying monogenic conditions associated with post-transplant complications may enable personalized management. Therefore, we developed a panel (355 genes) including cardiometabolic disorders, immunodeficiency, thrombophilia. This gene was then evaluated using exome sequencing data from 1590 KTR. Additionally, genes genitourinary...
Significance Statement Vesicoureteral reflux (VUR) is associated with progressive kidney disease. Familial aggregation supports a hereditary basis; however, its genetic architecture remains to be elucidated. The largest VUR copy number variant analysis and genome-wide association study date accounts for multiple modes of inheritance sex-specific effects in VUR, identifying three study-wide significant five suggestive loci large effects, containing canonical developmental genes including...
Significance Statement Congenital obstructive uropathy (COU) is a prevalent human developmental defect with highly heterogeneous clinical presentations and outcomes. Genetics may refine diagnosis, prognosis, treatment, but the genomic architecture of COU largely unknown. Comprehensive screening study 733 cases three distinct subphenotypes revealed disease etiology in 10.0% them. We detected no significant differences overall diagnostic yield among subphenotypes, characteristic variable...
ABSTRACT IgA nephropathy (IgAN) is a progressive form of kidney disease defined by glomerular deposition IgA. We performed genome-wide association study involving 10,146 biopsy-diagnosed IgAN cases and 28,751 matched controls across 17 international cohorts. 30 independent significant risk loci jointly explaining 11% risk. A total 16 were novel, including TNFSF4, REL, CD28, CXCL8/PF4V1, LY86, LYN, ANXA3, TNFSF8/15, REEP3, ZMIZ1, RELA, ETS1, IGH, IRF8, TNFRSF13B FCAR . The SNP-based...
Abstract IgA vasculitis (IgAV) is a pediatric disease with skin and systemic manifestations. Here, we conducted genome, transcriptome, proteome-wide association studies in 2,170 IgAV cases 5,928 controls, generated IgAV-specific maps of gene expression splicing from blood 255 cases, reconstructed myeloid-specific regulatory networks to define master regulators modulated by the newly identified driver genes. We observed significant at HLA - DRB1 (OR=1.55, P=1.1×10 −25 ) fine-mapped specific...
Abstract Kidney anomalies (KA) are developmental disorders that commonly cause pediatric chronic kidney disease and mortality. We examined rare coding variants in 248 KA trios 1,742 singleton cases compared them to 22,258 controls. Diagnostic candidate diagnostic were detected 14.1% of cases. a significant enrichment damaging constrained genes expressed during development associated with other disorders, suggesting phenotype expansion. Consistent these data, 18% patients had...