Go to JCI Insight
  • About
  • Editors
  • Consulting Editors
  • For authors
  • Publication ethics
  • Publication alerts by email
  • Advertising
  • Job board
  • Contact
  • Clinical Research and Public Health
  • Current issue
  • Past issues
  • By specialty
    • COVID-19
    • Cardiology
    • Gastroenterology
    • Immunology
    • Metabolism
    • Nephrology
    • Neuroscience
    • Oncology
    • Pulmonology
    • Vascular biology
    • All ...
  • Videos
    • Conversations with Giants in Medicine
    • Video Abstracts
  • Reviews
    • View all reviews ...
    • Pancreatic Cancer (Jul 2025)
    • Complement Biology and Therapeutics (May 2025)
    • Evolving insights into MASLD and MASH pathogenesis and treatment (Apr 2025)
    • Microbiome in Health and Disease (Feb 2025)
    • Substance Use Disorders (Oct 2024)
    • Clonal Hematopoiesis (Oct 2024)
    • Sex Differences in Medicine (Sep 2024)
    • View all review series ...
  • Viewpoint
  • Collections
    • In-Press Preview
    • Clinical Research and Public Health
    • Research Letters
    • Letters to the Editor
    • Editorials
    • Commentaries
    • Editor's notes
    • Reviews
    • Viewpoints
    • 100th anniversary
    • Top read articles

  • Current issue
  • Past issues
  • Specialties
  • Reviews
  • Review series
  • Conversations with Giants in Medicine
  • Video Abstracts
  • In-Press Preview
  • Clinical Research and Public Health
  • Research Letters
  • Letters to the Editor
  • Editorials
  • Commentaries
  • Editor's notes
  • Reviews
  • Viewpoints
  • 100th anniversary
  • Top read articles
  • About
  • Editors
  • Consulting Editors
  • For authors
  • Publication ethics
  • Publication alerts by email
  • Advertising
  • Job board
  • Contact
PARP alleles within the linked chromosomal region are associated with systemic lupus erythematosus
Betty P. Tsao, … , Bevra H. Hahn, Jerome I. Rotter
Betty P. Tsao, … , Bevra H. Hahn, Jerome I. Rotter
Published April 15, 1999
Citation Information: J Clin Invest. 1999;103(8):1135-1140. https://doi.org/10.1172/JCI5967.
View: Text | PDF
Article Article has an altmetric score of 3

PARP alleles within the linked chromosomal region are associated with systemic lupus erythematosus

  • Text
  • PDF
Abstract

Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by various autoantibodies that recognize autoantigens displayed on the surface of cells undergoing apoptosis. The genetic contribution to SLE susceptibility has been widely recognized. We previously reported evidence for linkage to SLE of the human chromosome 1q41–q42 region and have now narrowed it from 15 to 5 cM in an extended sample using multipoint linkage analysis. Candidate genes within this region include (a) PARP, poly(ADP-ribose) polymerase, encoding a zinc-finger DNA-binding protein that is involved in DNA repair and apoptosis; (b) TGFB2, encoding a transforming growth factor that regulates cellular interactions and responses; and (c) HLX1, encoding a homeobox protein that may regulate T-cell development. Using a multiallelic, transmission-disequilibrium test (TDT), we found overall skewing of transmission of PARP alleles to affected offspring in 124 families (P = 0.00008), preferential transmission of a PARP allele to affected offspring (P = 0.0003), and lack of transmission to unaffected offspring (P = 0.004). Similar TDT analyses of TGFB2 and HLX1 polymorphisms yielded no evidence for association with SLE. These results suggest that PARP may be (or is close to) the susceptibility gene within the chromosome 1q41–q42 region linked to SLE.

Authors

Betty P. Tsao, Rita M. Cantor, Jennifer M. Grossman, Nan Shen, Nickolay T. Teophilov, Daniel J. Wallace, Frank C. Arnett, Klaus Hartung, Rose Goldstein, Kenneth C. Kalunian, Bevra H. Hahn, Jerome I. Rotter

×

Figure 1

Options: View larger image (or click on image) Download as PowerPoint
Multipoint linkage analysis of the chromosome 1q31–q42 region using the ...
Multipoint linkage analysis of the chromosome 1q31–q42 region using the MAPMAKER/SIBS program. Positions of genetic markers relative to D1S510 are expressed in cM as the relative genetic distance shown on the x axis. All markers except HLX1 and TGFB2 were used in this analysis. The heuristic guideline of 1 lod below the peak value was used to identify a confidence interval of 5 cM (flanked by D1S2860 and D1S213) for the location of the putative SLE susceptibility gene.

Copyright © 2025 American Society for Clinical Investigation
ISSN: 0021-9738 (print), 1558-8238 (online)

Sign up for email alerts

Referenced in 3 patents
19 readers on Mendeley
See more details