title: Association of PDCD1 gene markers with susceptibility to thyroid cancer.
abstract: OBJECTIVE
  PD-1 receptor is a co-signaling molecule with an important role in regulation of T-lymphocyte activity. Correlation between PD-1 gene (PDCD1) polymorphisms and some immune-related diseases has been reported before. In current study, we aimed to investigate the association of PD-1 polymorphisms at positions +7146 G/A (PD-1.3) and +7785 C/T (PD-1.5), as well as the emerged haplotypes with susceptibility to thyroid carcinoma.
  
  
  METHODS
  One hundred five patients with confirmed thyroid cancer and 160 healthy individuals as control group were enrolled. Genotypes were identified using PCR-RFLP and nested PCR-RFLP methods. Results were analyzed by Arlequin and SPSS software packages.
  
  
  RESULTS
  Analysis revealed a significant increase in the frequency of PD-1.5 mutant T allele and heterozygous CT genotype in patients with thyroid cancer in comparison with controls [79 (37.7%) vs. 71 (22.2%), and 51 (48.6%) vs. 51 (31.9%), p = 0.0001 and p = 0.009, receptively]. CC genotype at this position observed to be significantly higher among controls than the patients [99 (61.9%) vs. 40 (38.1%), p = 0.0002]. There were no significant differences in the frequencies of genotypes and alleles at locus PD-1.3 between patients and control group. Despite this, GT haplotype emerged from both positions (PD-1.3 G and PD-1.5 T) has also been observed with significant increased frequency between patients and controls [70 (36.8%) vs. 71 (22.2%), p = 0.0005].
  
  
  CONCLUSIONS
  As the first study to investigate two mentioned polymorphisms in thyroid cancer, current study confirmed the association of PD-1.5 C/T polymorphism and a haplotype resulted from both loci, PD-1.3 and PD-1.5, with susceptibility of Iranians to thyroid cancer.
authors.affiliation: Cancer Immunology Group, Shiraz Institute for Cancer Research, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
authors.forename: M R
authors.initials: MR
authors.lastname: Haghshenas
authors.affiliation: Endocrinology and Metabolism Research Center, Nemazee Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.
authors.forename: M H
authors.initials: MH
authors.lastname: Dabbaghmanesh
authors.affiliation: Cancer Immunology Group, Shiraz Institute for Cancer Research, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
authors.forename: A
authors.initials: A
authors.lastname: Miri
authors.affiliation: Cancer Immunology Group, Shiraz Institute for Cancer Research, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
authors.forename: A
authors.initials: A
authors.lastname: Ghaderi
authors.affiliation: Cancer Immunology Group, Shiraz Institute for Cancer Research, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran. erfanin@sums.ac.ir.
authors.forename: N
authors.initials: N
authors.lastname: Erfani
mesh_terms: D018263:Adenocarcinoma, Follicular / Q000097:blood / Q000235:genetics / Q000473:pathology*; D000231:Adenocarcinoma, Papillary / Q000097:blood / Q000235:genetics / Q000473:pathology*; D000328:Adult; D014408:Biomarkers, Tumor / Q000097:blood / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D009367:Neoplasm Staging; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D011379:Prognosis; D061026:Programmed Cell Death 1 Receptor / Q000097:blood / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000097:blood / Q000235:genetics / Q000473:pathology*
chemical_list: D014408:Biomarkers, Tumor; C105992:PDCD1 protein, human; D061026:Programmed Cell Death 1 Receptor
keywords: PD-1; Polymorphism; Thyroid cancer