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Urinary stone disease: closing the heritability gap by challenging conventional Mendelian inheritance.

Jan Halbritter
Published in: Kidney international (2023)
Urinary stone disease is based on gene-environment interaction with an almost 50% heritability. Despite all efforts from exome-sequencing and genome-wide association studies, the genetic factors making up for observed heritability have been incompletely characterized. The study by Sadeghi-Alavijeh et al. leverages the invaluable resources of the 100,000 Genomes Project and the UK Biobank to identify heterozygous rare variants in the phosphate transporter SLC34A3 as a significant factor of urinary stone disease, challenging the traditional concept of Mendelian inheritance.
Keyphrases
  • copy number
  • genome wide association
  • mitochondrial dna
  • quality improvement
  • early onset
  • gene expression
  • cross sectional
  • dna methylation