A new locus for familial FSGS on chromosome 2P

Rasheed Gbadegesin, Peter Lavin, Louis Janssens, Bartlomiej Bartkowiak, Alison Homstad, Guanghong Wu, Brandy Bowling, Jason Eckel, Chris Potocky, Diana Abbott, Peter Conlon, William K. Scott, David Howell, Elizabeth Hauser, Michelle P. Winn

Research output: Contribution to journalArticle

7 Scopus citations

Abstract

FSGS is a clinicopathologic entity characterized by nephrotic syndrome and progression to ESRD. Although the pathogenesis is unknown, the podocyte seems to play a central role in this disorder. Here, we present six kindreds with hereditary FSGS that did not associate with mutations in known causal genes, and we report a new locus for the disease on chromosome 2p15 in one kindred. We performed genome-wide linkage analysis and refined the linkage area with microsatellite markers and haplotype analysis to define the minimal candidate region. Genome-wide linkage analysis yielded a maximum two-point logarithm of odds (LOD) score of 3.6 for the six families on chromosome 2p. One family contributed the largest proportion of the additive score (LOD 2.02) at this locus. Multipoint parametric LOD score calculation in this family yielded a significant LOD score of 3.1 at markers D2S393 and D2S337, and fine mapping of this region with microsatellite markers defined a minimal candidate region of 0.9 Mb with observed recombinations at markers D2S2332 and RS1919481. We excluded the remaining five families from linkage to this region by haplotype analysis. These data support a new gene locus for familial FSGS on chromosome 2p15. Identification of the mutated gene at this locus may provide further insight into the disease mechanisms of FSGS.

Original languageEnglish (US)
Pages (from-to)1390-1397
Number of pages8
JournalJournal of the American Society of Nephrology
Volume21
Issue number8
DOIs
StatePublished - Aug 1 2010

ASJC Scopus subject areas

  • Nephrology

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    Gbadegesin, R., Lavin, P., Janssens, L., Bartkowiak, B., Homstad, A., Wu, G., Bowling, B., Eckel, J., Potocky, C., Abbott, D., Conlon, P., Scott, W. K., Howell, D., Hauser, E., & Winn, M. P. (2010). A new locus for familial FSGS on chromosome 2P. Journal of the American Society of Nephrology, 21(8), 1390-1397. https://doi.org/10.1681/ASN.2009101046