Arthritis & Rheumatism, Volume 62,
November 2010 Abstract Supplement

Abstracts of the American College of
Rheumatology/Association of Rheumatology Health Professionals
Annual Scientific Meeting
Atlanta, Georgia November 6-11, 2010.


Association of adam33 Polymorphisms with Systemic Lupus Erythematosus.

Shim,  Seung-Cheol, Lim,  Mi-Kyoung, Sheen,  Dong-Hyuk

Background:

A Disintegrin and Metalloprotease 33 (ADAM33) is a member of a family of genes that encode membrane-anchored proteins with a disintegrin and a metalloprotease domain, and is located on chromosome 20p13. Recently, the polymorphisms in Adam33 have been found to be associated with asthma. Among the rheumatic diseases, systemic lupus erythematosus (SLE) is a prototypic Th2-mediated autoimmune disease like allergic disorders.

Purpose:

To assess whether genetic functional variants of ADAM33 are associated with susceptibility to SLE or development of specific phenotypes in patients with SLE.

Methods:

We have identified 48 SNPs, and nine SNPs were selected with regard to the LD pattern. Genotyping for g.10918G>C, g.12433T>C and g.13506C>G in the ADAM33 gene was conducted with PCR–RFLP methods, and genotyping for g.-330C>T, g.517 A>G, g.8227 G>A, g.9511 G>T, g.12462 C>T, g.12988 C>A polymorphisms was performed by single-base extension (SBE), using the ABI Prism® SNaPshot™ Multiplex kit (Applied Biosystems). We conducted an association study for ADAM33 polymorphisms in 190 SLE patients, 469 healthy controls, and 390 rheumatoid arthritis (RA) patients as a disease control. Haplotype analyses of related variants were performed as well.

Results:

Significant associations of ADAM33 polymorphisms with susceptibility to SLE were found at g.8227 G>A, g.12988 C>A, and g.13506 C>G (P value were all below 0.001). Polymorphisms at g.8227 G>A was associated with the ANA titers among SLE patients (P= 0.012). In addition, we analysed the haplotype, and found a positive association of susceptibility to SLE with the major haplotype CGCG (P= 3.5E-11). There was no association between ADAM33 polymorphisms and RA as expected.

Conclusion:

ADAM33 polymorphisms were strongly associated with susceptibility to SLE and the development of specific clinical manifestations.

To cite this abstract, please use the following information:
Shim, Seung-Cheol, Lim, Mi-Kyoung, Sheen, Dong-Hyuk; Association of adam33 Polymorphisms with Systemic Lupus Erythematosus. [abstract]. Arthritis Rheum 2010;62 Suppl 10 :488
DOI: 10.1002/art.28257

Abstract Supplement

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