Gary Leggatt
@garg1.bsky.social
Consultant Nephrologist, Sussex Kidney Unit, UK
Genetic Kidney Diseases, Kidney Stones
Genetic Kidney Diseases, Kidney Stones
At these sorts of allele frequencies they must co-exist with monogenic conditions in the same gene. It is hard to imagine that they don't have a disease modifying effect, especially when the common variant influences gene expression.
November 16, 2024 at 3:38 PM
At these sorts of allele frequencies they must co-exist with monogenic conditions in the same gene. It is hard to imagine that they don't have a disease modifying effect, especially when the common variant influences gene expression.
In one association study using UK biobank data nearly every variant in IQCB1 (NPHP5) was found to be significantly associated with urea/creatinine level, it is also a monogenic cause of nephronophthisis (and retinitis pigmentosa) (PMID: 33636100)
November 16, 2024 at 6:10 AM
In one association study using UK biobank data nearly every variant in IQCB1 (NPHP5) was found to be significantly associated with urea/creatinine level, it is also a monogenic cause of nephronophthisis (and retinitis pigmentosa) (PMID: 33636100)
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 5:38 AM
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).
It would be great if you could add me thank you
November 16, 2024 at 5:27 AM
It would be great if you could add me thank you