title: No evidence of association between genetic variants of the PDCD1 ligands and SLE.
abstract: PDCD1, an immunoreceptor involved in peripheral tolerance has previously been shown to be genetically associated with systemic lupus erythematosus (SLE). PDCD1 has two ligands whose genes are located in close proximity on chromosome 9p24. Our attention was drawn to these ligands after finding suggestive linkage to a marker (gata62f03, Z=2.27) located close to their genes in a genome scan of Icelandic families multiplex for SLE. Here, we analyse Swedish trios (N=149) for 23 single nucleotide polymorphisms (SNPs) within the genes of the PDCD1 ligands. Initially, indication of association to eight SNPs was observed, and these SNPs were therefore also analysed in Mexican trios (N=90), as well as independent sets of patients and controls from Sweden (152 patients, 448 controls) and Argentina (288 patients, 288 controls). We do not find support for genetic association to SLE. This is the first genetic study of SLE and the PDCD1 ligands and the lack of association in several cohorts implies that these genes are not major risk factors for SLE.
authors.affiliation: Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden.
authors.forename: A K
authors.initials: AK
authors.lastname: Abelson
authors.forename: C M
authors.initials: CM
authors.lastname: Johansson
authors.forename: S V
authors.initials: SV
authors.lastname: Kozyrev
authors.forename: H
authors.initials: H
authors.lastname: Kristjansdottir
authors.forename: I
authors.initials: I
authors.lastname: Gunnarsson
authors.forename: E
authors.initials: E
authors.lastname: Svenungsson
authors.forename: A
authors.initials: A
authors.lastname: Jönsen
authors.forename: G
authors.initials: G
authors.lastname: Lima
authors.forename: H R
authors.initials: HR
authors.lastname: Scherbarth
authors.forename: S
authors.initials: S
authors.lastname: Gamron
authors.forename: A
authors.initials: A
authors.lastname: Allievi
authors.forename: S A
authors.initials: SA
authors.lastname: Palatnik
authors.forename: A
authors.initials: A
authors.lastname: Alvarellos
authors.forename: S
authors.initials: S
authors.lastname: Paira
authors.forename: C
authors.initials: C
authors.lastname: Graf
authors.forename: C
authors.initials: C
authors.lastname: Guillerón
authors.forename: L J
authors.initials: LJ
authors.lastname: Catoggio
authors.forename: C
authors.initials: C
authors.lastname: Prigione
authors.forename: C G
authors.initials: CG
authors.lastname: Battagliotti
authors.forename: G A
authors.initials: GA
authors.lastname: Berbotto
authors.forename: M A
authors.initials: MA
authors.lastname: García
authors.forename: C E
authors.initials: CE
authors.lastname: Perandones
authors.forename: L
authors.initials: L
authors.lastname: Truedsson
authors.forename: K
authors.initials: K
authors.lastname: Steinsson
authors.forename: G
authors.initials: G
authors.lastname: Sturfelt
authors.forename: B
authors.initials: B
authors.lastname: Pons-Estel
authors.forename: M E
authors.initials: ME
authors.lastname: Alarcón-Riquelme
mesh_terms: D015703:Antigens, CD / Q000235:genetics* / Q000378:metabolism*; D051017:Apoptosis Regulatory Proteins / Q000378:metabolism*; D060890:B7-H1 Antigen; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics* / Q000378:metabolism; D008024:Ligands; D015810:Linkage Disequilibrium; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide; D061027:Programmed Cell Death 1 Ligand 2 Protein; D061026:Programmed Cell Death 1 Receptor
chemical_list: D015703:Antigens, CD; D051017:Apoptosis Regulatory Proteins; D060890:B7-H1 Antigen; C423236:CD274 protein, human; D036341:Intercellular Signaling Peptides and Proteins; D008024:Ligands; C105992:PDCD1 protein, human; C556977:PDCD1LG2 protein, human; D061027:Programmed Cell Death 1 Ligand 2 Protein; D061026:Programmed Cell Death 1 Receptor