학술논문
No evidence of association between genetic variants of the PDCD1 ligands and SLE
Document Type
Author
Abelson, Anna-Karin; Johansson, Cecilia M.; Kozyrev, Sergey V.; Kristjansdottir, Helga; Gunnarsson, Iva; Svenungsson, Elisabet; Jönsen, Andreas; Lima, Guadalupe; Scherbarth, Hugo R; Gamron, Susana; Allievi, Alejandro; Palatnik, Sergio A; Alvarellos, Antonio; Paira, Sergio; Graf, Cesar; Guillerón, Carlos; Catoggio, Luis J; Prigione, Carlos; Battagliotti, Cesar G; Berbotto, Guillermo A; García, Mercedes A; Perandones, Carlos E; Truedsson, Lennart; Steinsson, Kristjan; Sturfelt, Gunnar; Pons-Estel, Bernardo; Alarcón-Riquelme, Marta E.
Source
Genes and Immunity. 8(1):69-74
Subject
Language
English
ISSN
1466-4879
1476-5470
1476-5470
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.