Primary Glomerulonephritis: Genetic Insight

A serious worldwide health issue with a large heritable component is primary glomerulonephritis. Genome-wide, high-throughput studies of the genetic basis of complex human characteristics have been made possible by the rapid development of sequencing technology.

Numerous susceptibility loci and disease-causing genes for various primary glomerulonephritis subtypes have been effectively discovered through genetic investigations. The studies have shown that the genetic architecture of IgA nephropathy-associated genes is very complicated, polygenic, and pleiotropic and that a small number of large-effect loci may be responsible for the genetic predisposition to membranous nephropathy.

The most diverse phenotype of focal segmental glomerulosclerosis is said to be a result of both susceptibility genes and high-penetrant gene alterations. The genetic heterogeneity across populations and between the various types of glomerular diseases has revealed the existence of disease- and ethnicity-specific underlying molecular pathways for the illnesses. The major histocompatibility (MHC) loci have been the focus of most genome-wide association studies (GWAS) findings, showing the common pathophysiology of immune-mediated illness at the genetic level.

Recent research has produced unique insights into the pathophysiology of glomerular diseases thanks to larger sample numbers and greater resolutions of genome-wide imputation. Additional integration of genetic study findings with functional genomics datasets may reveal new drug development targets as well as possible diagnostic and stratification tools for patients. For each glomerular disease subtype, bigger GWASs, sequencing studies, independent cohorts, and more consistent phenotypic inclusion across studies are needed.

Reference: onlinelibrary.wiley.com/doi/10.1111/nep.14074

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