Filtering the genes and sorting the glomerular filter: a new piece in the puzzle?

摘要

Genetics is an extremely powerful tool when used to enhance our understanding of (patho)physiology [1]. The investigation into nephrotic syndrome (NS) is a typical example: while initially family-based studies utilizing genetic linkage analyses could identify clear-cut fully pene-trant single gene, i.e. Mendelian, disorders (see Table 1), the field now slowly moves to genetic methodology not in need of familial data, i.e. genome-wide association studies (GWAS) to address more complex genetics. Initially used mostly in the investigation of common disorders, GWAS has now shown to be most successful in the investigation of rare disorders, including NS [2-5].