Gary Leggatt
@garg1.bsky.social
Consultant Nephrologist, Sussex Kidney Unit, UK
Genetic Kidney Diseases, Kidney Stones
Genetic Kidney Diseases, Kidney Stones
Reposted by Gary Leggatt
Another nice example by @garg1.bsky.social of “dual genetic architecture” of particular genes (Mendelian “causal” and polygenic “risk” alleles) as they relate to kidney diseases and traits #kidneyomics
And more...MUC1 in ADTKD-MUC1 , but also a very common variant with an allele frequency of 42% (gnomAD genomes),(rs4072037) influences gene expression through alternative splice-site mechanisms and is associated with declining kidney function in GWAS (PMID: 30467309).
November 16, 2024 at 1:12 PM
Another nice example by @garg1.bsky.social of “dual genetic architecture” of particular genes (Mendelian “causal” and polygenic “risk” alleles) as they relate to kidney diseases and traits #kidneyomics