Episodebeskrivelse
Tzoumkas K et al., The American Journal of Human Genetics - COL4A3 and COL4A4 are paralogous genes that build the same collagen IV network in the kidney filter, and variant guidelines have generally treated them as interchangeable. This episode follows a population-scale study in the UK Biobank, replicated in All of Us, showing that truncating and NC1 domain missense variants carry much stronger associations with hematuria and proteinuria in COL4A4 than in COL4A3, while glycine substitutions behave alike in both genes. Key terms: COL4A3, COL4A4, Alport syndrome, hematuria, UK Biobank.
Study…
Website: basebybase.castos.com
