Kidney Function

2026-03-25 · Queen Mary University of London & University of the Witwatersrand (KidneyGenAfrica consortium, ~26,000 continental Africans + 81,000 African-ancestry diaspora)

Largest genomic study of kidney function in Africa reveals new genetic risk factors

The KidneyGenAfrica consortium's GWAS of kidney function (eGFR) in ~26,000 continental Africans plus 81,000 African-ancestry people elsewhere found 4 genome-wide significant loci in continental Africa (2 new) and 19 in a broader pan-African analysis (3 new), and confirmed APOL1's kidney-disease-risk variants occur at lower frequency in continental Africa than in African Americans. The main finding: genetic risk scores built from genetically similar populations predicted kidney function meaningfully better than scores built on larger but more distant datasets -- a direct argument for the population-specific reference data this topic's own eGFR-equation history turns on, not a change to the equation itself.

2026-02-10 · KidneyGenAfrica multi-cohort Genome-wide association study and polygenic prediction of kidney function in 110,000 Africans. Nature Communications. 2026. DOI:10.1038/s41467-026-69367-3

First large African-ancestry kidney function GWAS finds APOL1's risk signal looks very different on the continent itself

Kidney disease disproportionately affects people of African ancestry, but most kidney-function genetics has been built on European cohorts. This three-stage study analyzed estimated glomerular filtration rate (eGFR) in roughly 26,000 people across Eastern, Western and Southern Africa plus roughly 81,000 African-ancestry people in the diaspora. A continental-Africa-only meta-analysis found 4 independent genome-wide significant loci (2 newly reported); a broader pan-African meta-analysis including the diaspora found 19 independent loci (3 newly reported), with fine-mapping identifying 4 loci with high causal probability and phenome-wide effects on cardiometabolic and immune traits. The study's most striking finding concerns APOL1: its high-risk variants are strongly associated with kidney disease in African Americans, but in this study they showed markedly lower frequency and weaker effects in people living on the African continent itself -- evidence that the genetic architecture of kidney disease risk may genuinely differ between the diaspora and the continent, not just differ in allele frequency by coincidence. Polygenic risk scores built from genetically similar populations substantially outperformed those built from more distant cohorts, a concrete demonstration of why genetic risk tools need ancestry-matched training data specifically. This site's kidney function page carries 69 variants; APOL1 is not currently among them, and the study's specific lead SNPs were not yet indexed in GWAS Catalog at the time of writing, so this entry documents the finding at the condition level.

2026-09-09 · Genome-wide association study of estimated glomerular filtration rate using repeated measurements in the Taiwan Biobank. Kidney Research and Clinical Practice. 2026. DOI:10.23876/j.krcp.25.430

Using two kidney-function measurements instead of one sharpens a Taiwanese GWAS to 6 loci, 2 of them new

Most kidney-function GWAS use a single creatinine measurement per person, which can be noisy due to normal day-to-day variability. This study used two repeated eGFR measurements from 25,004 people in the prospective Taiwan Biobank, modeled with a subject-specific random intercept to get a more precise per-person estimate before running the GWAS -- a methods improvement as much as a discovery paper. It found 6 loci associated with eGFR: four previously reported regions (1q22, 4q21.1, 11p14.1, 17q21.2) and two additional ones (6p21.32, 15q24.2). Functional annotation implicated candidate genes MUC1/EFNA1, SHROOM3, HLA-DQB1, MPPED2, NRG4 and PGAP3/FBXL20. This site's kidney function page already carries SHROOM3 and FBXL20 from earlier studies; MUC1/EFNA1, HLA-DQB1, MPPED2, NRG4 and PGAP3 are new to the page. The authors themselves frame this primarily as a demonstration that repeated measurements improve phenotype precision in kidney-function GWAS, with the specific loci still needing further replication -- a methodological contribution alongside the discovery.

2026-02-01 · Genome-wide association of albuminuria and chronic kidney disease in American Indians and Hispanics/Latinos. Human Molecular Genetics. 2026. DOI:10.1093/hmg/ddaf168

A kidney-damage study in two high-risk populations finds population-specific signals -- that don't cross-replicate between them

American Indians and Hispanics/Latinos both carry a high burden of chronic kidney disease (CKD), and this study asked whether they share genetic risk factors for it and for albuminuria (protein leaking into urine, an early kidney-damage marker). Analyzing 3,157 American Indians and 12,625 Hispanics/Latinos, it found five low-frequency variants at chromosome 7 associated with albuminuria in American Indians specifically (lead variant rs4370473, intronic to KCND2, P=8.93x10^-9), and a separate chromosome 11 variant in Hispanics/Latinos (rs59232451, at the HBE1-HBB locus, P=4.9x10^-8, significant only after adjusting for diabetes). Critically, and reported honestly, these albuminuria associations did not cross-replicate between the two populations, and no variant reached significance for CKD itself in either group. Rather than a shared genetic mechanism, this suggests real population-specific differences in albuminuria's genetic architecture between these two groups, despite their shared elevated disease burden -- an important negative-adjacent finding for a field that sometimes assumes shared ancestry-adjacent risk factors transfer across related but distinct populations. This site's kidney function page carries 69 variants; KCND2 and the HBE1-HBB locus are not currently among them, and given the non-replication, this entry documents the finding with that caveat rather than as an established risk locus.

2026-08-19 · Garrett ME et al., Blood Advances 2026 (PMID 42616615)

Why Kidneys Fail in Sickle Cell Disease: Genetic Clues From Both Sides of Patients’ Ancestry

Sickle cell disease affects about 100,000 people in the United States, mostly of African ancestry, and kidney damage is a common complication linked to early death. Researchers split each patient’s genome into its African and European stretches and searched both for genes linked to kidney function. They found 12 regions in the African stretches and 38 in the European ones, in genes for inflammation, iron handling and the tissue that holds the kidney together, supporting the idea that sickle cell kidney disease differs from other kidney disease. Two of the positions have pages here: rs77741394 in ADAMTS6 and rs35371039.

2026-08-25 · Mu Y et al., Biology of Sex Differences 2026 (PMID 42702734)

Muscle Loss With Age: A Blood-Test Index Finds Different Genes in Men and Women

Sarcopenia is the loss of muscle with age. A UK Biobank study used a simple blood-test ratio, creatinine to cystatin C, as a stand-in for muscle mass and found 774 genetic regions, with different genes standing out in men and women: the androgen receptor in men, the oestrogen receptor gene ESR1 in women. The strongest signals were in CPS1 and in CST3, the gene that makes cystatin C, one of the two blood markers the index is built from. rs55837531 in CST3 and rs1047891 in CPS1 have pages here.

The genes worth knowing by name

• UMOD — uromodulin, the most abundant protein in normal urine and the strongest common signal for filtration rate. It is made only in the kidney, which is unusual and is part of why the association is believed to be real rather than a reflection of something else.
• SHROOM3 — associated with filtration rate and with chronic kidney disease itself, not only with the measurement.
• CUBN — albumin reabsorption, described above.
• WDR72 and SLC34A1 — both appear across creatinine and urea measures.

A caveat this page does not need to make

Most pages here carry a warning that the evidence was gathered mostly in people of European ancestry. For filtration rate, one study is a partial exception worth stating: an analysis of 71,638 people across four ancestry groups found that the allelic effects at the lead variants were homogeneous across ancestries. The effect sizes travelled, which is not something that can be assumed and is not always what is found.

That is about the variants, not about the equation. Estimated filtration rate is calculated from creatinine using a formula, and how those formulas should handle ancestry has been argued over and revised in clinical practice — a separate question from the genetics, and one settled by kidney societies rather than by this page.

What this page cannot do

• It cannot tell you your kidney function. A blood test and a urine test do, cheaply, and they capture everything genetics cannot see — blood pressure, diabetes, medicines, dehydration, infection.
• It cannot diagnose chronic kidney disease. That is a filtration rate or an albumin level, measured, and sustained over months.
• It cannot explain an abnormal result. Except in one narrow and interesting sense: a persistently raised albumin result with no other sign of kidney disease is exactly the pattern CUBN can produce. That is a conversation for a doctor, not a conclusion to draw here.