ArticleHuman molecular genetics2019
Sequence variants associating with urinary biomarkers.
Article in Human molecular genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 5 of them syntheses that pooled it.
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Who cites it
27 citing papers in PubMed, 5 syntheses or guidelines pooled it.
- Discovery and prioritization of genetic determinants of kidney function in 297,355 individuals from Taiwan and Japan.Nature communications · 2024Pooled it
- GWAS of random glucose in 476,326 individuals provide insights into diabetes pathophysiology, complications and treatment stratification.Nature genetics · 2023Pooled it
- Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.Kidney international · 2022Guideline
- First genome-wide association study investigating blood pressure and renal traits in domestic cats.Scientific reports · 2022Pooled it
- Genetic variants of calcium and vitamin D metabolism in kidney stone disease.Nature communications · 2019Pooled it
- Autosomal Type IV Collagen Genes Display Sex Differences in Genetic Risk for Hematuria.Kidney international reports · 2026Article
- Sequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome.Nature communications · 2026Article
- WDR72 Is Required for Urinary Acidification and Normal HActa physiologica (Oxford, England) · 2026Article
- Personalised prevention and management of kidney stones: a narrative review on the importance of integrating environmental, social and genetic factors.Public health reviews · 2026Review
- Urinary P75: a promising biomarker for amyotrophic lateral sclerosis.BMJ neurology open · 2025Article
- Genetics of kidney stones and the role of genetic testing in prevention: a guide for urologists.Frontiers in medicine · 2025Review
- Association of Genetically Predicted Skipping of COL4A4 Exon 27 with Hematuria and Albuminuria.Journal of the American Society of Nephrology : JASN · 2025Article
- Genetic analyses of 104 phenotypes in 20,900 Chinese pregnant women reveal pregnancy-specific discoveries.Cell genomics · 2024Article
- Genetic variants affecting mitochondrial function provide further insights for kidney disease.BMC genomics · 2024Article
- GWAS for the composite traits of hematuria and albuminuria.Scientific reports · 2023Article
- The Phenotypic Spectrum ofKidney international reports · 2023Article
- Unravelling the genetic architecture of human complex traits through whole genome sequencing.Nature communications · 2023Article
- The pathophysiology of distal renal tubular acidosis.Nature reviews. Nephrology · 2023Review
- Alport Syndrome: Clinical Spectrum and Therapeutic Advances.Kidney medicine · 2023Review
- Kidney Disease Associated With Mono-allelicKidney medicine · 2023Article
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Authors and funding
38 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Urine dipstick tests are widely used in routine medical care to diagnose kidney and urinary tract and metabolic diseases. Several environmental factors are known to affect the test results, whereas the effects of genetic diversity are largely unknown. We tested 32.5 million sequence variants for association with urinary biomarkers in a set of 150 274 Icelanders with urine dipstick measurements. We detected 20 association signals, of which 14 are novel, associating with at least one of five clinical entities defined by the urine dipstick: glucosuria, ketonuria, proteinuria, hematuria and urine pH. These include three independent glucosuria variants at SLC5A2, the gene encoding the sodium-dependent glucose transporter (SGLT2), a protein targeted pharmacologically to increase urinary glucose excretion in the treatment of diabetes. Two variants associating with proteinuria are in LRP2 and CUBN, encoding the co-transporters megalin and cubilin, respectively, that mediate proximal tubule protein uptake. One of the hematuria-associated variants is a rare, previously unreported 2.5 kb exonic deletion in COL4A3. Of the four signals associated with urine pH, we note that the pH-increasing alleles of two variants (POU2AF1, WDR72) associate significantly with increased risk of kidney stones. Our results reveal that genetic factors affect variability in urinary biomarkers, in both a disease dependent and independent context.
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