A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9.

Genetic variation at the MYH9 locus is linked to the high incidence of focal segmental glomerulosclerosis (FSGS) and non-diabetic end-stage renal disease among African Americans. To further define risk alleles with FSGS we performed a genome-wide association analysis using more than one million single-nucleotide polymorphisms in 56 African-American and 61 European-American patients with biopsy-confirmed FSGS. Results were compared to 1641 European Americans and 1800 African Americans as unselected controls.

Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.

Focal segmental glomerulosclerosis (FSGS) is a pattern of kidney injury observed either as an idiopathic finding or as a consequence of underlying systemic conditions. Several genes have been identified that, when mutated, lead to inherited FSGS and/or the related nephrotic syndrome. These findings have accelerated the understanding of glomerular podocyte function and disease, motivating our search for additional FSGS genes.

Invited commentary: defining incident chronic kidney disease in epidemiologic study settings.

Chronic kidney disease affects an estimated 31 million Americans and potentially poses a significant global health and socioeconomic crisis. Chronic kidney disease can be treated if patients are identified early enough in the evolution of their kidney disease. However, in order for this to occur, suitable definitions of what is meant by "chronic kidney disease" need to be identified.

NPHS2 variation in focal and segmental glomerulosclerosis.

Background: Focal and segmental glomerulosclerosis (FSGS) is the most common histologic pattern of renal injury seen in adults with idiopathic proteinuria. Homozygous or compound heterozygous mutations in the podocin gene NPHS2 are found in 10-30% of pediatric cases of steroid resistant nephrosis and/or FSGS.

Methods: We studied the spectrum of genetic variation in 371 individuals with predominantly late onset FSGS (mean age of onset 25 years) by analysis of DNA samples.