Vol.20 No.5

Original Article

Single nucleotide polymorphisms of CD244 gene predispose to renal and neuropsychiatric manifestations with systemic lupus erythematosus


Yuko Ota1 , Yasushi Kawaguchi1 , Kae Takagi1 , Akiko Tochimoto1 , Manabu Kawamoto1 , Yasuhiro Katsumata1 , Takahisa Gono1 , Ikuko Masuda1 , Katsunori Ikari1 , Shigeki Momohara1 , Hisashi Yamanaka1

  • Institute of Rheumatology, Tokyo Women’s Medical University

24 December 2009


29 March 2010

Published online:

1 May 2010

Full Text

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The objective of this study was to explore the association of single nucleotide polymorphisms (SNPs) of the CD244 gene with several clinical features of systemic lupus erythematosus (SLE). Two hundred and forty-three patients with SLE and 369 healthy controls were enrolled. Two SNPs (rs6682654 and rs3766379) in the CD244 gene were determined by allelic discrimination using a specific TaqMan probe. Only SNP rs3766379 was significantly associated with susceptibility to SLE [P = 0.009; odds ratio (OR) 1.28; 95% confidence interval (CI) 1.04-1.57]. The association was preferentially observed in subsets of SLE patients with nephritis and neuropsychiatric lupus. The frequency of the rs6682654 C allele was strongly associated with nephritis and neuropsychiatric lupus (P = 0.00065; OR 1.99; 95% CI 1.34-2.95, and P = 1.6 × 10-7; OR 3.47; 95% CI 2.12-5.70, respectively), as was the frequency of the rs3766379 T allele (P = 0.0014; OR 1.86; 95% CI 1.27-2.71, and P = 2.6 × 10-7; OR 3.15; 95% CI 2.00-4.96, respectively). In this study, an SNP of the CD244 gene was associated with susceptibility to SLE. There was a strikingly strong association in SLE patients with nephritis and neuropsychiatric lupus, suggesting that this genetic marker could predict involvement of those severe complications.

Key words

Systemic lupus erythematosus - CD244 - Single nucleotide polymorphisms