Rheumatology Advance Access published online on March 31, 2003
Rheumatology, doi:10.1093/rheumatology/keg270
Rheumatology © British Society for Rheumatology 2003; all rights reserved
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Original Papers
1 Medicine and Biosystemic Science, Kyushu University Graduate School of Medical Sciences, Fukuoka 812-8582
* Corresponding author. E-mail: tsukamot{at}intmed1.med.kyushu-u.ac.jp.
Received 2 September 2002
; accepted 8 January 2003
Objective. We investigated the association of gene polymorphisms in APRIL, a new member of the TNF family, with systemic lupus erythematosus. Methods. To detect polymorphisms of the human APRIL gene by exon-specific polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) analysis, we first determined the structure of the human APRIL gene. We designed exon-specific oligonucleotide primers according to the genomic DNA sequence of APRIL. All of the coding regions in exons of the APRIL gene were analysed by exon-specific PCR-SSCP in 148 SLE patients and 146 unaffected controls, then the nucleotide sequences of exons that displayed aberrant bands were determined. Results. The human APRIL gene comprised at least six exons with five introns, spanning approximately 2.8 kilobases of the genomic DNA. By exon-specific PCR-SSCP, we identified two novel polymorphisms at codons 67 and 96. Both had amino acid substitutions: G67R and N96S respectively. Only the 67G allele was associated with SLE in 148 Japanese SLE patients, with allele frequency 0.662 compared with 0.575 for 146 unaffected controls (P=0.0302). The frequency of the individuals who possessed at least one 67G allele in SLE patients (91.9%) was significantly higher than that in the unaffected controls (80.1%) (P=0.0036). Conclusion. The 67G allele of APRIL may be a contributing factor in the pathogenesis of SLE.
Key words: APRIL, Systemic lupus erythematosus, Polymorphism, Exon-specific PCR-SSCP.
A novel polymorphism of the human APRIL gene is associated with systemic lupus erythematosus
2 Institute of Genetic Information, Kyushu University, Fukuoka 812-8582, Japan
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  Y. H. Lee, F. Ota, X. Kim-Howard, K. M. Kaufman, and S. K. Nath APRIL polymorphism and systemic lupus erythematosus (SLE) susceptibility Rheumatology, August 1, 2007; 46(8): 1274 - 1276. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. Kawasaki, N. Tsuchiya, J. Ohashi, Y. Murakami, T. Fukazawa, M. Kusaoi, S. Morimoto, K. Matsuta, H. Hashimoto, Y. Takasaki, et al. Role of APRIL (TNFSF13) polymorphisms in the susceptibility to systemic lupus erythematosus in Japanese Rheumatology, May 1, 2007; 46(5): 776 - 782. [Abstract] [Full Text] [PDF]
|
|