title: Comprehensive analysis of polymorphisms in the HLA-G 5' upstream regulatory and 3' untranslated regions in Brazilian patients with systemic lupus erythematosus.
abstract: This study aims to comprehensively analyze human leucocyte antigen (HLA)-G polymorphisms association with susceptibility to systemic lupus erythematosus (SLE) development and clinical manifestations. The HLA-G 5' upstream regulatory region (URR), 3' untranslated region (UTR) and a cytosine deletion at exon 3 (ΔC, HLA-G*0105N allele) were analyzed in 114 SLE patients and 128 healthy controls from North East Brazil. The +3003T>C (rs1707) C allele and the HG010101c extended HLA-G allele were significantly more frequent in SLE patients than healthy controls (+3003C allele frequency: 12% in SLE patients vs 6% in controls; odds ratio (OR), 2.10, 95% confidence interval (CI), 1.06-4.28, P = 0.026; HG010101c frequency: 11.8% in SLE patients and 6.3% in controls; OR, 2.14, 95% CI, 1.01-4.51, P = 0.046) and were associated with susceptibility for disease development. Other polymorphisms were associated with different clinical manifestations. Although HLA-G role in SLE disease is far from being elucidated yet, our association study results along with a systematic review and meta-analysis suggest that HLA-G might be able to slightly modulate the complex SLE phenotype (pooled OR, 1.14, 95% CI, 1.02-1.27, P = 0.021).
authors.affiliation: University of Trieste, Trieste, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Catamo
authors.forename: C
authors.initials: C
authors.lastname: Addobbati
authors.forename: L
authors.initials: L
authors.lastname: Segat
authors.forename: T
authors.initials: T
authors.lastname: Sotero Fragoso
authors.forename: A
authors.initials: A
authors.lastname: Tavares Dantas
authors.forename: H
authors.initials: H
authors.lastname: de Ataide Mariz
authors.forename: L
authors.initials: L
authors.lastname: Ferreira da Rocha Junior
authors.forename: A L
authors.initials: AL
authors.lastname: Branco PintoDuarte
authors.forename: A V C
authors.initials: AV
authors.lastname: Coelho
authors.forename: R R
authors.initials: RR
authors.lastname: de Moura
authors.forename: V
authors.initials: V
authors.lastname: Polesello
authors.forename: S
authors.initials: S
authors.lastname: Crovella
authors.forename: P
authors.initials: P
authors.lastname: Sandrin Garcia
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics; D020121:5' Untranslated Regions / Q000235:genetics; D000328:Adult; D000483:Alleles; D001323:Autoantibodies / Q000097:blood; D001938:Brazil; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D059951:HLA-G Antigens / Q000235:genetics* / Q000502:physiology; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D054643:INDEL Mutation; D008180:Lupus Erythematosus, Systemic / Q000235:genetics* / Q000276:immunology; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D063189:Symptom Assessment
chemical_list: D020413:3' Untranslated Regions; D020121:5' Untranslated Regions; D001323:Autoantibodies; D059951:HLA-G Antigens
keywords: human leukocyte antigen-G; mRNA stability; polymorphisms; systemic lupus erythematosus