New study identifies genetic variants contributing to kidney disease.

kidney1A research study has identified certain associated with a type of , called focal segmental glomerulosclerosis. Focal segmental glomerulosclerosis (FSGS) is defined as scarring in tissue that affects more than 5,000 people in the US every year. Symptoms of the condition include foamy urine (caused by excess ), weight gain, swelling (caused by excess body fluids) and poor appetite.

The association was strongest among African American participants with 72% suffering from FSGS possessing variants of the APOL1 gene. The apolipoprotein L1 (APOL1) is a gene responsible for producing a that forms a part of high-density lipoprotein (HDL), referred to as “good” cholesterol.

The study examined how APOL1 variants influenced FSGS among 94 individuals of variety of ethnicities, including African American, Hispanic and European American. It was determined that participants who had variants in the APOL1 gene were more likely to be at an advanced stage of FSGS when they were diagnosed with the condition.

The researchers also determined the of the APOL1 in two Hispanic participants and two European American participants; never before been reported in these ethnicities.


Clinical features and histology of apolipoprotein L1-associated nephropathy in the FSGS clinical trial, Jeffery Kopp, et al., Journal of the American Society of Nephrology, published online 8 January 2015.

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