Skip to main content

A new locus for familial FSGS on chromosome 2p.

Publication ,  Journal Article
Gbadegesin, R; Lavin, P; Janssens, L; Bartkowiak, B; Homstad, A; Wu, G; Bowling, B; Eckel, J; Potocky, C; Abbott, D; Conlon, P; Scott, WK ...
Published in: J Am Soc Nephrol
August 2010

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.

Duke Scholars

Published In

J Am Soc Nephrol

DOI

EISSN

1533-3450

Publication Date

August 2010

Volume

21

Issue

8

Start / End Page

1390 / 1397

Location

United States

Related Subject Headings

  • Young Adult
  • Urology & Nephrology
  • Pedigree
  • Nephrotic Syndrome
  • Male
  • Lod Score
  • Kidney Failure, Chronic
  • Humans
  • Genome-Wide Association Study
  • Female
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Gbadegesin, R., Lavin, P., Janssens, L., Bartkowiak, B., Homstad, A., Wu, G., … Winn, M. P. (2010). A new locus for familial FSGS on chromosome 2p. J Am Soc Nephrol, 21(8), 1390–1397. https://doi.org/10.1681/ASN.2009101046
Gbadegesin, Rasheed, Peter Lavin, Louis Janssens, Bartlomiej Bartkowiak, Alison Homstad, Guanghong Wu, Brandy Bowling, et al. “A new locus for familial FSGS on chromosome 2p.J Am Soc Nephrol 21, no. 8 (August 2010): 1390–97. https://doi.org/10.1681/ASN.2009101046.
Gbadegesin R, Lavin P, Janssens L, Bartkowiak B, Homstad A, Wu G, et al. A new locus for familial FSGS on chromosome 2p. J Am Soc Nephrol. 2010 Aug;21(8):1390–7.
Gbadegesin, Rasheed, et al. “A new locus for familial FSGS on chromosome 2p.J Am Soc Nephrol, vol. 21, no. 8, Aug. 2010, pp. 1390–97. Pubmed, doi:10.1681/ASN.2009101046.
Gbadegesin R, Lavin P, Janssens L, Bartkowiak B, Homstad A, Wu G, Bowling B, Eckel J, Potocky C, Abbott D, Conlon P, Scott WK, Howell D, Hauser E, Winn MP. A new locus for familial FSGS on chromosome 2p. J Am Soc Nephrol. 2010 Aug;21(8):1390–1397.

Published In

J Am Soc Nephrol

DOI

EISSN

1533-3450

Publication Date

August 2010

Volume

21

Issue

8

Start / End Page

1390 / 1397

Location

United States

Related Subject Headings

  • Young Adult
  • Urology & Nephrology
  • Pedigree
  • Nephrotic Syndrome
  • Male
  • Lod Score
  • Kidney Failure, Chronic
  • Humans
  • Genome-Wide Association Study
  • Female