scholarly journals Association of a functional polymorphism in the 3′-untranslated region of SPI1 with systemic lupus erythematosus

2011 ◽  
Vol 63 (3) ◽  
pp. 755-763 ◽  
Author(s):  
Koki Hikami ◽  
Aya Kawasaki ◽  
Ikue Ito ◽  
Minori Koga ◽  
Satoshi Ito ◽  
...  
2013 ◽  
Vol 40 (7) ◽  
pp. 1104-1113 ◽  
Author(s):  
Norma Lucena-Silva ◽  
Veridiana Sales Barbosa de Souza ◽  
Renan Garcia Gomes ◽  
Alex Fantinatti ◽  
Yara Costa Netto Muniz ◽  
...  

Objective.HLA-G has well recognized tolerogenic properties in physiological and nonphysiological conditions. The 3′ untranslated region (3′UTR) of theHLA-Ggene has at least 3 polymorphic sites (14-bpINS/DEL, +3142C/G, and +3196C/G) described as associated with posttranscriptional influence on messenger RNA production; however, only the 14-bpINS/DEL and +3142C/G sites have been studied in systemic lupus erythematosus (SLE).Methods.We investigated theHLA-G3′UTR polymorphic sites (14-bpINS/DEL, +3003C/T, +3010C/G, +3027A/C, +3035C/T, +3142C/G, +3187A/G, and +3196C/G) in 190 Brazilian patients with SLE and 282 healthy individuals in allele, genotype, and haplotype analyses. A multiple logistic regression model was used to assess the association of the disease features with theHLA-G3′UTR haplotypes.Results.Increased frequencies were observed of the 14-bpINS (p = 0.053), +3010C (p = 0.008), +3142G (p = 0.006), and +3187A (p = 0.013) alleles, and increased frequencies of the 14-bpINS-INS (p = 0.094), +3010 C-C (p = 0.033), +3142 G-G (p = 0.021), and +3187 A-A (p = 0.035) genotypes. After Bonferroni correction, only the +3142G (p = 0.05) and +3010C (p = 0.06) alleles were overrepresented in SLE patients. The UTR-1 haplotype (14-bpDEL/+3003T/+3010G/+3027C/+3035C/+3142C/+3187G/+3196C) was underrepresented in SLE (pcorr= 0.035).Conclusion.These results indicate thatHLA-G3′UTR polymorphic sites, particularly +3142G and +3010C alleles, were associated with SLE susceptibility, whereas UTR-1 was associated with protection against development of SLE.


Lupus ◽  
2006 ◽  
Vol 15 (10) ◽  
pp. 658-661 ◽  
Author(s):  
E Sánchez ◽  
J M Sabio ◽  
J L Callejas ◽  
E de Ramón ◽  
M de Haro ◽  
...  

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