#610927
SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9; SLEB9

Phenotype Gene Relationships
Location Phenotype Phenotype
MIM number
Gene/Locus Gene/Locus
MIM number
1q32.2 {Systemic lupus erythematosus, susceptibility to, 9} 610927 CR2 120650

TEXT
A number sign (#) is used with this entry because susceptibility to systemic lupus erythematosus is influenced by a haplotype of the CR2 gene (120650).

For a phenotypic description and a discussion of genetic heterogeneity of systemic lupus erythematosus (SLE), see 152700.

Wu et al. (2007) found evidence of linkage at chromosome 1q32.2 in a targeted genome scan of chromosome 1q21-q43 in 126 SLE multiplex families containing 151 affected sib pairs (nonparametric linkage score of 2.52; p = 0.006). The authors analyzed the CR2 gene (120650) in 1,416 individuals from 258 Caucasian and 142 Chinese SLE simplex families and demonstrated that a common 3-SNP haplotype (120650.0001) was associated with SLE susceptibility (p = 0.00001) with a 1.54-fold increased risk for development of disease. Wu et al. (2007) concluded that the CR2 gene is likely a susceptibility gene for SLE.

REFERENCES
1. Wu, H., Boackle, S. A., Hanvivadhanakul, P., Ulgiati, D., Grossman, J. M., Lee, Y., Shen, N., Abraham, L. J., Mercer, T. R., Park, E., Hebert, L. A., Rovin, B. H., and 13 others. Association of a common complement receptor 2 haplotype with increased risk of systemic lupus erythematosus. Proc. Nat. Acad. Sci. 104: 3961-3966, 2007. [PubMed: 17360460, related citations] [Full Text: HighWire Press, Pubget]

Creation Date: Marla J. F. O'Neill : 4/12/2007
Edit History: alopez : 08/26/2008
alopez : 8/20/2008
carol : 6/2/2008
wwang : 4/25/2007
wwang : 4/19/2007
wwang : 4/12/2007