Article

Uromodulin T62P variant causes kidney tubular stress and injury modulated by age and polygenic risk

2026-07-31

Abstract excerpt

While ultra-rare missense variants in UMOD cause highly penetrant autosomal dominant tubulointerstitial kidney disease, a more frequent UMOD T62P variant conveys intermediate risk with variable penetrance. To determine whether age or polygenic risk contributes to the variable penetrance of T62P, we combined genotype and phenotype data from 882,306 individuals across the UK Biobank (discovery cohort) and the All...

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Literature Corpus work: 1c3a0ce1-8b73-5246-9a26-da8068f47ef3
DOI: 10.64898/2026.07.29.26359269

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