title: Lack of association of programmed cell death 1 gene (PDCD1) polymorphisms with susceptibility to chronic urticaria in patients with positive autologous serum skin test.
abstract: BACKGROUND
  Autoimmune mechanisms play an important role in the pathophysiology of chronic urticaria (CU), and the autologous serum skin test (ASST) helps to identify patients with autoreactive CU. One of the factors involved in autoreactive mechanisms is the cell surface receptor programmed death-1 which is encoded by the programmed cell death 1 gene (PDCD1).
  
  
  OBJECTIVE
  To investigate whether PDCD1 polymorphisms influence susceptibility to CU.
  
  
  METHODS
  We enrolled 93 ASST-positive patients with CU and a control group consisting of 105 healthy volunteers. In all individuals, PD1.3 (7146 A/G; rs 11568821) and PD1.5 (7785 C/T; rs 2227981) polymorphisms were analyzed.
  
  
  RESULTS
  No statistically significant differences were found between CU patients and controls for allele or genotype distribution. We also did not observe any association between PDCD1 genotypes and severity of urticaria or age of disease onset.
  
  
  CONCLUSIONS
  PD1.3 and PD1.5 polymorphisms were not proven to be implicated in susceptibility to ASST-positive CU in the Polish population. A more comprehensive analysis of the 2q33-2q37 genomic region might reveal whether variants of 1 or more of the genes in this region are involved in susceptibility to CU.
authors.affiliation: Clinical Department of Internal Diseases, Allergology and Clinical Immunology, Medical University of Silesia, Katowice, Poland. zbrzoza@mp.pl
authors.forename: Z
authors.initials: Z
authors.lastname: Brzoza
authors.forename: W
authors.initials: W
authors.lastname: Grzeszczak
authors.forename: W
authors.initials: W
authors.lastname: Trautsolt
authors.forename: D
authors.initials: D
authors.lastname: Moczulski
mesh_terms: D000293:Adolescent; D000328:Adult; D001323:Autoantibodies / Q000097:blood; D015551:Autoimmunity / Q000235:genetics; D002908:Chronic Disease; D018450:Disease Progression; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D011044:Poland; D011110:Polymorphism, Genetic; D061026:Programmed Cell Death 1 Receptor / Q000235:genetics*; D012882:Skin Tests; D014581:Urticaria / Q000175:diagnosis* / Q000235:genetics* / Q000276:immunology; D055815:Young Adult
chemical_list: D001323:Autoantibodies; C105992:PDCD1 protein, human; D061026:Programmed Cell Death 1 Receptor