Focal Segmental Glomerulosclerosis: Genetics & Mechanisms

$1,827,056ZIAFY2023DKNIH

National Institute Of Diabetes And Digestive And Kidney Diseases

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Abstract

Focal segmental glomerulosclerosis (FSGS) is a clinical-pathologic syndromes characterized by the accumulation of fibrotic proteins in glomeruli, initially involving only some glomeruli (focal) and involving portions (segments) of the affected glomeruli. FSGS can be classified as follows: idiopathic FSGS, genetic FSGS and post-adaptive FSGS (associated with glomerular hypertrophy and hyperfiltration, and due to reduced renal mass, renal toxins, obesity, and sickle cell disease). A related syndrome is collapsing glomerulopathy, associated with podocyte hyperplasia whereas FSGS is associated with podocyte depletion. Collapsing glomerulopathy can be classified as HIV-associated or idiopathic. The incidence of primary FSGS is increased by a factor of 4 in African Americans, and the incidence of HIV-associated collapsing glomerulpathy is increased by a factor of 18 in African Americans. In prior years, we have shown that most of this effect is due to genetic variation in APOL1. A related project pursues that hypothesis that other scarring disorders which are more common in individuals of African descent are associated with genetic mutations. We have identified a number of families of diverse geographical ancestry with familial keloids, and are using genome scans to identify the responsible locus. An exome scan has identified several promising candidate loci which we are further characterizing. Our progress during the past year included the following: 1) showing that APOL1 effects on blood pressure are mediated in part by air pollution Associations between APOL1 genetic variants and blood pressure in African American mothers and children from a U.S. pregnancy cohort: Modification by air pollution exposures. Ni Y, Simpson CL, Davis RL, Szpiro AA, Karr CJ, Kovesdy CP, Hjorten RC, Tylavsky FA, Bush NR, LeWinn KZ, Winkler CA, Kopp JB, Obi Y. Environ Res. 2022 Sep;212(Pt A):113186. doi: 10.1016/j.envres.2022.113186. Epub 2022 Mar 28. PMID: 35358541

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