Kidney-compartment genomic prioritization across diabetic and population kidney traits: an exploratory Mendelian randomization and colocalization study

Introduction Kidney-trait regulatory signals are difficult to prioritize because diabetes-specific and population-wide outcomes, kidney‐compartment eQTL resources, progression phenotypes, disease-state expression data, and locus-level colocalization are usually evaluated separately. Methods We assembled an exploratory public-data framework integrating CKDGen, KP4CD, GTEx v10, Susztak/NephQTL, Human Protein Atlas, INTERVAL, Open Targets, and kidney disease single‐cell resources across estimated glomerular filtration rate (eGFR), urinary albumin‐to‐creatinine ratio (UACR), and progression phenotypes. Single-SNP Wald ratios were treated as screening estimates, with primary within-outcome FDR and a study‐wide BH-FDR sensitivity analysis across 597,099 screening rows. Single‐cell, external expression, protein, and tractability resources were used as biological context rather than validation. Results GTEx exposure quality control retained 209,031 kidney‐cortex and 2,744,871 whole‐blood significant variant‐gene pairs; outcome‐specific overlap and harmonization yielded 31‐2,232 screening pairs per displayed status outcome. Only UMOD had FDR-level support from diabetes-specific outcomes and general kidney traits. PRKCI and WIPF3 showed robust single-signal approximate Bayes factor colocalization with overall UACR, whereas ITIH4, LINC02166, and A3GALT2 were downgraded because of prior sensitivity or diffuse local patterns. Discussion Therefore, the framework prioritizes loci for mechanistic follow‐up while avoiding claims of definitive causal Mendelian randomization, diabetic kidney disease specificity for general-trait signals, or therapeutic readiness.

Authors

Institutions

Publication Details

Journal
Frontiers in Genetics
Published
2026-10-28
DOI
https://doi.org/10.3389/fgene.2026.1921914
Primary Topic
Genetic Associations and Epidemiology
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Kidney-compartment genomic prioritization across diabetic and population kidney traits: an exploratory Mendelian randomization and colocalization study

Ran Chen, Xiaohui Bi
3 links
Frontiers in Genetics
Genetic Associations and Epidemiology
article

Kidney-compartment genomic prioritization across diabetic and population kidney traits: an exploratory Mendelian randomization and colocalization study

Ran Chen, Xiaohui Bi
article en

Abstract

Introduction Kidney-trait regulatory signals are difficult to prioritize because diabetes-specific and population-wide outcomes, kidney‐compartment eQTL resources, progression phenotypes, disease-state expression data, and locus-level colocalization are usually evaluated separately. Methods We assembled an exploratory public-data framework integrating CKDGen, KP4CD, GTEx v10, Susztak/NephQTL, Human Protein Atlas, INTERVAL, Open Targets, and kidney disease single‐cell resources across estimated glomerular filtration rate (eGFR), urinary albumin‐to‐creatinine ratio (UACR), and progression phenotypes. Single-SNP Wald ratios were treated as screening estimates, with primary within-outcome FDR and a study‐wide BH-FDR sensitivity analysis across 597,099 screening rows. Single‐cell, external expression, protein, and tractability resources were used as biological context rather than validation. Results GTEx exposure quality control retained 209,031 kidney‐cortex and 2,744,871 whole‐blood significant variant‐gene pairs; outcome‐specific overlap and harmonization yielded 31‐2,232 screening pairs per displayed status outcome. Only UMOD had FDR-level support from diabetes-specific outcomes and general kidney traits. PRKCI and WIPF3 showed robust single-signal approximate Bayes factor colocalization with overall UACR, whereas ITIH4, LINC02166, and A3GALT2 were downgraded because of prior sensitivity or diffuse local patterns. Discussion Therefore, the framework prioritizes loci for mechanistic follow‐up while avoiding claims of definitive causal Mendelian randomization, diabetic kidney disease specificity for general-trait signals, or therapeutic readiness.

Frontiers in GeneticsVol. 17
Shenzhen University (CN)
Good health and well-being
Openalex Percentile: Top 15%
Genetic Associations and Epidemiology
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.

Laika access coming soon