Journal of the American Society of Nephrology
2008 JASN IMPACT FACTOR 7.505 HOME   AUTHOR INFO   EDITORIAL BOARD   SUBSCRIBE   FEEDBACK   ALERTS   HELP 
    advanced
CURRENT ISSUE ARCHIVES JASN Express ONLINE SUBMISSION


This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by TSUKAGUCHI, H.
Right arrow Articles by POLLAK, M. R.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by TSUKAGUCHI, H.
Right arrow Articles by POLLAK, M. R.
J Am Soc Nephrol 11:1674-1680, 2000
© 2000 American Society of Nephrology

A Locus for Adolescent and Adult Onset Familial Focal Segmental Glomerulosclerosis on Chromosome 1q25-31

HIROYASU TSUKAGUCHI*, HENRY YAGER{dagger}, JOHN DAWBORN{ddagger}, LUIS JOST§, JERRY COHLMIA||, PATRICIA F. ABREU, APARECIDO B. PEREIRA and MARTIN R. POLLAK*

* Renal Division and Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts
{dagger} Department of Medicine, Tufts University School of Medicine, Boston, Massachusetts
{ddagger} Department of Nephrology, Austin and Repatriation Medical Centre, Heidelberg, Australia
§ Division of Nephrology, Instituto Universitario CEMIC, Buenos Aires, Argentina
|| University of Kansas School of Medicine, Wichita, Kansas
Division of Nephrology, Department of Medicine, Universidade Federal de São Paulo, Brazil

Correspondence to Dr. Martin R. Pollak, 77 Ave Louis Pasteur, Boston, MA 02115. Phone: 617-525-5840; Fax: 617-525-5841; E-mail: mpollak{at}rics.bwh.harvard.edu

Abstract. Focal segmental glomerulosclerosis is a nonspecific renal lesion observed both as a primary (idiopathic) entity and in a secondary form, typically in association with reduced functional renal mass. Familial forms have been observed and two loci for autosomal dominant FSGS have been mapped. This study shows that an adolescent/adult form of recessive FSGS maps to a locus on chromosome 1q25-31, which overlaps with a region previously identified as harboring a locus for an early childhood onset recessive form of nephrotic syndrome (SRN1). Evaluation of a large family demonstrated linkage with a maximum two-point lod score of 3.98 at D1S254 and D1S222. Lod score calculations support the conclusion of linkage in four of five additional families. Haplotype analysis suggests that this FSGS gene is located in a 19-cM region flanked by D1S416 and D1S413, of which 6 cM overlaps with SRN1, suggesting that these distinct clinical subsets of kidney disease may be allelic. These regions may also overlap with the syntenic region of the glomerulosclerosis susceptibility locus in the BUF/Mna rat. Because the presentation of FSGS may be subtle, inherited FSGS may be much more common than generally realized and grossly underestimated because of the absence of clear familial patterns. This result increases the suspicion that polymorphisms at this locus may contribute to sporadic FSGS.




This article has been cited by other articles:


Home page
 Arch OphthalmolHome page
R. Klein, M. D. Knudtson, K. E. Lee, and B. E. K. Klein
Serum Cystatin C Level, Kidney Disease Markers, and Incidence of Age-Related Macular Degeneration: The Beaver Dam Eye Study
Arch Ophthalmol, February 1, 2009; 127(2): 193 - 199.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
C. L. Thompson, B. E.K. Klein, R. Klein, Z. Xu, J. Capriotti, T. Joshi, D. Leontiev, K. E. Lee, R. C. Elston, and S. K. Iyengar
Complement factor H and hemicentin-1 in age-related macular degeneration and renal phenotypes
Hum. Mol. Genet., September 1, 2007; 16(17): 2135 - 2148.
[Abstract] [Full Text] [PDF]

Home page
 CJASNHome page
N. He, A. Zahirieh, Y. Mei, B. Lee, S. Senthilnathan, B. Wong, B. Mucha, F. Hildebrandt, D. E. Cole, D. Cattran, et al.
Recessive NPHS2 (Podocin) Mutations Are Rare in Adult-Onset Idiopathic Focal Segmental Glomerulosclerosis
Clin. J. Am. Soc. Nephrol., January 1, 2007; 2(1): 31 - 37.
[Abstract] [Full Text] [PDF]

Home page
 Nephrol Dial TransplantHome page
A. Kitamura, H. Tsukaguchi, K. Iijima, J. Araki, M. Hattori, M. Ikeda, M. Honda, K. Nozu, H. Nakazato, N. Yoshikawa, et al.
Genetics and clinical features of 15 Asian families with steroid-resistant nephrotic syndrome
Nephrol. Dial. Transplant., November 1, 2006; 21(11): 3133 - 3138.
[Full Text] [PDF]

Home page
 Physiol. GenomicsHome page
M. S. Orloff, S. K. Iyengar, C. A. Winkler, K. A. B. Goddard, R. A. Dart, T. S. Ahuja, M. Mokrzycki, W. A. Briggs, S. M. Korbet, P. L. Kimmel, et al.
Variants in the Wilms' tumor gene are associated with focal segmental glomerulosclerosis in the African American population
Physiol Genomics, April 14, 2005; 21(2): 212 - 221.
[Abstract] [Full Text] [PDF]

Home page
 J. Am. Soc. Nephrol.Home page
B. I. Freedman, C. D. Langefeld, S. S. Rich, C. J. Valis, M. M. Sale, A. H. Williams, W. M. Brown, S. R. Beck, P. J. Hicks, and D. W. Bowden
A Genome Scan for ESRD in Black Families Enriched for Nondiabetic Nephropathy
J. Am. Soc. Nephrol., October 1, 2004; 15(10): 2719 - 2727.
[Abstract] [Full Text] [PDF]

Home page
 BrainHome page
A. Badhwar, S. F. Berkovic, J. P. Dowling, M. Gonzales, S. Narayanan, A. Brodtmann, L. Berzen, J. Caviness, C. Trenkwalder, J. Winkelmann, et al.
Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder
Brain, October 1, 2004; 127(10): 2173 - 2182.
[Abstract] [Full Text] [PDF]

Home page
 Exp. Biol. Med.Home page
M. Sharma, R. Sharma, E. T. McCarthy, and V. J. Savin
The Focal Segmental Glomerulosclerosis Permeability Factor: Biochemical Characteristics and Biological Effects
Experimental Biology and Medicine, January 1, 2004; 229(1): 85 - 98.
[Abstract] [Full Text] [PDF]

Home page
 J. Am. Soc. Nephrol.Home page
M.-C. Gubler
Podocyte Differentiation and Hereditary Proteinuria/Nephrotic Syndromes
J. Am. Soc. Nephrol., June 1, 2003; 14(90001): S22 - 26.
[Abstract] [Full Text] [PDF]

Home page
 Physiol. GenomicsHome page
C. Yagil, M. Sapojnikov, G. Katni, Z. Ilan, S. W. Zangen, E. Rosenmann, and Y. Yagil
Proteinuria and glomerulosclerosis in the Sabra genetic rat model of salt susceptibility
Physiol Genomics, June 3, 2002; 9(3): 167 - 178.
[Abstract] [Full Text] [PDF]

Home page
 Nephrol Dial TransplantHome page
B. I. Freedman
End-stage renal failure in African Americans: insights in kidney disease susceptibility
Nephrol. Dial. Transplant., February 1, 2002; 17(2): 198 - 200.
[Full Text] [PDF]

Home page
 J. Am. Soc. Nephrol.Home page
M. P. Winn
Not All in the Family: Mutations of Podocin in Sporadic Steroid-Resistant Nephrotic Syndrome
J. Am. Soc. Nephrol., February 1, 2002; 13(2): 577 - 579.
[Full Text] [PDF]

Home page
 DevelopmentHome page
B. Vogel and E. Hedgecock
Hemicentin, a conserved extracellular member of the immunoglobulin superfamily, organizes epithelial and other cell attachments into oriented line-shaped junctions
Development, January 3, 2001; 128(6): 883 - 894.
[Abstract] [PDF]


HOME CURRENT ISSUE ARCHIVES JASN Express ONLINE SUBMISSION AUTHOR INFO
EDITORIAL BOARD SUBSCRIBE FEEDBACK ALERTS HELP

Copyright © 2009 by the American Society of Nephrology. Online ISSN: 1533-3450 Print ISSN: 1046-6673