title: PDCD1 single nucleotide genes polymorphisms confer susceptibility to juvenile-onset systemic lupus erythematosus.
abstract: Juvenile-onset systemic lupus erythematosus (JSLE) is a multisystem autoimmune disease in which both the genetic and environmental factors seem to be involved in the etiopathogenesis of the disease. The aim of this study was to evaluate the association of programmed cell death 1 (PDCD1, also called PD-1) gene polymorphisms with JSLE susceptibility in Iranian population. In this case-control association study, three PDCD1 SNPs, including PD-1.1 G/A, PD-1.3 G/A and PD-1.9 C/T were genotyped in 50 Iranian patients with JSLE and 202 healthy unrelated controls, using PCR-RFLP method. The PD-1.1 A allele was found to be more frequent in the case group compared with controls (6% vs. 1.5%, p = 0.024). Moreover, the GG genotype was less frequent in cases than in controls (88% vs. 97%, p = 0.021). The other PDCD1 SNPs did not show association. At the haplotypic level, no significant differences was recognized between the two groups of case and control neither for the GAC (PD-1.1 G, PD-1.3 A, PD-1.9 C) nor for the GGC haplotype (PD-1.1 G, PD-1.3 G, PD-1.9 C). Our findings support the influence of the PD1.1 A SNP on the development of JSLE in Iranian population.
authors.affiliation: a Rheumatology Research Center, Tehran University of Medical Sciences , Tehran , Iran .
authors.forename: Mahdi
authors.initials: M
authors.lastname: Mahmoudi
authors.affiliation: a Rheumatology Research Center, Tehran University of Medical Sciences , Tehran , Iran .|b Department of Immunology , School of Medicine, Tehran University of Medical Sciences , Tehran , Iran .
authors.forename: Alireza
authors.initials: A
authors.lastname: Rezaiemanesh
authors.affiliation: a Rheumatology Research Center, Tehran University of Medical Sciences , Tehran , Iran .|c Molecular Immunology Research Center, School of Medicine, Tehran University of Medical Sciences , Tehran , Iran .
authors.forename: Arash
authors.initials: A
authors.lastname: Salmaninejad
authors.affiliation: d Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences , Tehran , Iran .
authors.forename: Sara
authors.initials: S
authors.lastname: Harsini
authors.affiliation: a Rheumatology Research Center, Tehran University of Medical Sciences , Tehran , Iran .
authors.forename: Shiva
authors.initials: S
authors.lastname: Poursani
authors.affiliation: a Rheumatology Research Center, Tehran University of Medical Sciences , Tehran , Iran .|c Molecular Immunology Research Center, School of Medicine, Tehran University of Medical Sciences , Tehran , Iran .
authors.forename: Tayyeb
authors.initials: T
authors.lastname: Bahrami
authors.affiliation: e Department of Pediatrics , Children's Medical Center, Tehran University of Medical Sciences , Tehran , Iran , and.
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Tahghighi
authors.affiliation: e Department of Pediatrics , Children's Medical Center, Tehran University of Medical Sciences , Tehran , Iran , and.
authors.forename: Vahid
authors.initials: V
authors.lastname: Ziaee
authors.affiliation: b Department of Immunology , School of Medicine, Tehran University of Medical Sciences , Tehran , Iran .|d Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences , Tehran , Iran .|f Universal Scientific Education and Research Network (USERN) , Tehran , Iran.
authors.forename: Nima
authors.initials: N
authors.lastname: Rezaei
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D000483:Alleles; D016022:Case-Control Studies; D002648:Child; D005091:Exons; D005260:Female; D015870:Gene Expression; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D060005:Genotyping Techniques; D006239:Haplotypes; D006801:Humans; D058847:Inflammasomes / Q000235:genetics / Q000276:immunology; D007438:Introns; D008180:Lupus Erythematosus, Systemic / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D008297:Male; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D061026:Programmed Cell Death 1 Receptor / Q000235:genetics* / Q000276:immunology; D011401:Promoter Regions, Genetic
chemical_list: D058847:Inflammasomes; C105992:PDCD1 protein, human; D061026:Programmed Cell Death 1 Receptor
keywords: Autoimmunity; PD-1; children; single nucleotide polymorphism; systemic lupus erythematosus