J Rheum Dis.  2016 Apr;23(2):88-95. 10.4078/jrd.2016.23.2.88.

ADAM33 Polymorphisms Are Associated with Susceptibility to Systemic Lupus Erythematosus in a Korean Population

• Kim JY
• Kim Y
• Chae SC
• Lee SS
• Lim MK
• Sheen DH
• Chung HT
• Shim SC

• KMID: 2222784
• DOI: http://doi.org/10.4078/jrd.2016.23.2.88

Abstract

OBJECTIVE
The objective of this study is to assess whether genetic functional variants of disintegrin and metalloprotease 33 (ADAM33) are associated with susceptibility to systemic lupus erythematosus (SLE) in a Korean population.
METHODS
We previously identified 48 single nucleotide polymorphisms (SNPs) in ADAM33. Six SNPs were selected with regard to the linkage disequilibrium pattern. An association study of ADAM33 was conducted in 190 patients with SLE and 469 control subjects. SNPs were genotyped using the TaqMan Real-time polymerase chain reaction method, and haplotype analyses of related variants were performed.
RESULTS
All SNPs were in Hardy-Weinberg equilibrium. Significant associations were found between the ADAM33 polymorphisms and SLE at rs2787094 (adjusted odds ratio [OR] 1.88, 95% confidence interval [CI] 1.00 to 3.54; p<0.0001). The rs554743 polymorphism was associated with the presence of the immunoglobulin M anti-cardiolipin antibody (adjusted OR 0.29, 95% CI 0.10 to 0.83; p=0.021).
CONCLUSION
ADAM33 polymorphisms were associated with susceptibility to SLE and development of clinical disease manifestations in a Korean population. Further study is warranted to clarify the role of ADAM33 in SLE pathogenesis.

Keyword

Disintegrin and metalloproteinase domain 33 protein; Systemic lupus erythematosus; Single nucleotide polymorphism

MeSH Terms

Haplotypes
Humans
Immunoglobulin M
Linkage Disequilibrium
Lupus Erythematosus, Systemic*
Odds Ratio
Polymorphism, Single Nucleotide
Real-Time Polymerase Chain Reaction
Immunoglobulin M

Figure

• 

  Figure 1. Linkage disequilibrium pattern in the ADAM33 gene.

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