Familial Mutliple Autoimmune Disease

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Familial Mutliple Autoimmune Disease

Postby Mike Bartolatz » Sat Jul 15, 2006 10:38 pm

Published by the University of Chicago Press

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Title Analysis of Families in the Multiple Autoimmune Disease Genetics Consortium (MADGC) Collection: the PTPN22 620W Allele Associates with Multiple Autoimmune Phenotypes
Author(s) Lindsey A. Criswell, Kirsten A. Pfeiffer, Raymond F. Lum, Bonnie Gonzales, Jill Novitzke, Marlena Kern, Kathy L. Moser, Ann B. Begovich, Victoria E. H. Carlton, Wentian Li, Annette T. Lee, Ward Ortmann, Timothy W. Behrens, and Peter K. Gregersen
Identifiers The American Journal of Human Genetics, volume 76 (2005), pages 561–571
DOI: 10.1086/429096
PubMed ID: 15719322

Availability This site: PS | HTML | PDF (136.6k) [Subscription required]
Copyright © 2005, The American Society of Human Genetics.
Abstract Autoimmune disorders constitute a diverse group of phenotypes with overlapping features and a tendency toward familial aggregation. It is likely that common underlying genes are involved in these disorders. Until very recently, no specific allelesaside from a few common human leukocyte antigen class II geneshad been identified that clearly associate with multiple different autoimmune diseases. In this study, we describe a unique collection of 265 multiplex families assembled by the Multiple Autoimmune Disease Genetics Consortium (MADGC). At least two of nine "core" autoimmune diseases are present in each of these families. These core diseases include rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), type 1 diabetes (T1D), multiple sclerosis (MS), autoimmune thyroid disease (Hashimoto thyroiditis or Graves disease), juvenile RA, inflammatory bowel disease (Crohn disease or ulcerative colitis), psoriasis, and primary Sjögren syndrome. We report that a recently described functional single-nucleotide polymorphism (rs2476601, encoding R620W) in the intracellular tyrosine phosphatase (PTPN22) confers risk of four separate autoimmune phenotypes in these families: T1D, RA, SLE, and Hashimoto thyroiditis. MS did not show association with the PTPN22 risk allele. These findings suggest a common underlying etiologic pathway for some, but not all, autoimmune disorders, and they suggest that MS may have a pathogenesis that is distinct from RA, SLE, and T1D. DNA and clinical data for the MADGC families are available to the scientific community; these data will provide a valuable resource for the dissection of the complex genetic factors that underlie the various autoimmune phenotypes.
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Postby Mike Bartolatz » Tue Jul 18, 2006 1:53 am

Mike Bartolatz
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Helping out {smile}

Postby kat341 » Tue Jul 18, 2006 11:18 am

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family link

Postby heatherknc » Wed Mar 28, 2007 2:15 am

My aunt has ben diagnosed with lupus. I have been diagnosed with iritis, for which an underlying cause has not been found. I would be, as would my aunt, willing to participate in a genetic study. Although I do not know if the information on this post was looking for this, I feel compelled to offer. We are both perplexed by our conditions.
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Familial Mutliple Autoimmune Disease

Postby kat341 » Mon Apr 02, 2007 12:18 pm

Hi Heather,
Here is a link to this study if You would like to participate. From what I have read they may be doing another study this June or July.

Best Kathy


http://www.madgc.org/pubs.aspx
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Postby Mike Bartolatz » Mon Apr 02, 2007 2:30 pm

Heather,
Rarely Systemic Lupus Erythematosus can cause posterior uveitis and vasculitis of the retina. sometimes there is optic neuritis and CNS disease present as well. Is your aunt a 'blood relative?" if so, some of the connective tissue disorders present with iritis.
your 'iritis' would best be treated systemically even if there are no symptoms at this time since the iritis is autoimmune in nature.

Wish you the very best,
Mike
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