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New Gene Abnormality Location Tied to Kidney Disease

Gene locus on chromosome 2p15 may be linked to focal segmental glomerulosclerosis

FRIDAY, July 9 (HealthDay News) -- A new gene locus may be associated with the development of focal segmental glomerulosclerosis (FSGS), which is typically characterized by nephrotic syndrome and progression to end-stage renal disease (ESRD), according to a study published online July 8 in the Journal of the American Society of Nephrology.

In a genome-wide linkage analysis, Rasheed Gbadegesin, M.D., of the Duke University Medical Center in Durham, N.C., and colleagues evaluated six families with hereditary FSGS not associated with mutations in known causal genes.

The researchers found a new locus for FSGS on chromosome 2p15 in one central European family with at least 12 family members affected by the disease. A maximum two-point logarithm of odds (LOD) score of 3.6 for the six families on chromosome 2p was demonstrated with genome-wide linkage analysis, with the one central European family contributing to the largest proportion of the additive score at chromosome 2p15 (LOD, 2.02). The affected family members varied in the time of disease onset, ranging between childhood and teenage years, but those affected rapidly progressed to ESRD before the age of 30 years.

"These data support a new gene locus for familial FSGS on chromosome 2p15," the authors write. "Identification of the mutated gene at this locus may provide further insight into the disease mechanisms of FSGS."

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