title: Polymorphisms in PDCD1 gene are not associated with Wegener's granulomatosis.
abstract: Genetic association of programmed cell death-1 (PDCD1) has been implicated in several autoimmune inflammatory disorders. Hence, in this study, our main objective is to evaluate the association of PDCD1 gene to Wegener's granulomatosis (WG). We, thus, analyzed three single nucleotide polymorphisms (SNPs) in PDCD1 gene among WG patients and controls. Further, we quantified circulating serum levels of soluble (s) PD-1 in patients and controls. The methodologies used were ABI Taqman allelic discrimination and restriction fragment length polymorphism for genotyping and in-house ELISA for quantifying sPD-1. Statistical relevance was analyzed by Fischer's exact test. As a result, reduced AA homozygote for SNP in intron-1 was observed, among the patients. However, no association was demonstrated after Bonferroni correction. Also, no differences in genotype and allele frequency were elucidated for SNPs in intron-4 and exon-5. Moreover, we could not demonstrate circulating sPD-1. In conclusion, we show no association of selected SNPs in PDCD1 gene with WG.
authors.affiliation: Rheumatology Unit, Department of Medicine, Center for Molecular Medicine (L8:04), Karolinska Institutet, 17176, Stockholm, Sweden. priya.sakthivel@ki.se
authors.forename: Priya
authors.initials: P
authors.lastname: Sakthivel
authors.forename: Ricardo
authors.initials: R
authors.lastname: Giscombe
authors.forename: Ryan
authors.initials: R
authors.lastname: Ramanujam
authors.forename: Ann Kari
authors.initials: AK
authors.lastname: Lefvert
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D015703:Antigens, CD / Q000235:genetics*; D051017:Apoptosis Regulatory Proteins / Q000235:genetics*; D016022:Case-Control Studies; D005091:Exons; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D014890:Granulomatosis with Polyangiitis / Q000235:genetics*; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D007438:Introns; D015810:Linkage Disequilibrium; D008875:Middle Aged; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D061026:Programmed Cell Death 1 Receptor; D012995:Solubility; D013548:Sweden
chemical_list: D015703:Antigens, CD; D051017:Apoptosis Regulatory Proteins; C105992:PDCD1 protein, human; D061026:Programmed Cell Death 1 Receptor