Association of PDCD1 gene markers with susceptibility to thyroid cancer

Purpose 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 polymorphis...

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Veröffentlicht in:Journal of endocrinological investigation 2017-05, Vol.40 (5), p.481-486
Hauptverfasser: Haghshenas, M. R., Dabbaghmanesh, M. H., Miri, A., Ghaderi, A., Erfani, N.
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container_end_page 486
container_issue 5
container_start_page 481
container_title Journal of endocrinological investigation
container_volume 40
creator Haghshenas, M. R.
Dabbaghmanesh, M. H.
Miri, A.
Ghaderi, A.
Erfani, N.
description Purpose 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]. Conclusion 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.
doi_str_mv 10.1007/s40618-016-0579-5
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R. ; Dabbaghmanesh, M. H. ; Miri, A. ; Ghaderi, A. ; Erfani, N.</creator><creatorcontrib>Haghshenas, M. R. ; Dabbaghmanesh, M. H. ; Miri, A. ; Ghaderi, A. ; Erfani, N.</creatorcontrib><description>Purpose 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]. Conclusion 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.</description><identifier>ISSN: 1720-8386</identifier><identifier>ISSN: 0391-4097</identifier><identifier>EISSN: 1720-8386</identifier><identifier>DOI: 10.1007/s40618-016-0579-5</identifier><identifier>PMID: 27943063</identifier><language>eng</language><publisher>Cham: Springer International Publishing</publisher><subject>Adenocarcinoma, Follicular - blood ; Adenocarcinoma, Follicular - genetics ; Adenocarcinoma, Follicular - pathology ; Adenocarcinoma, Papillary - blood ; Adenocarcinoma, Papillary - genetics ; Adenocarcinoma, Papillary - pathology ; Adult ; Biomarkers, Tumor - blood ; Biomarkers, Tumor - genetics ; Case-Control Studies ; Endocrinology ; Female ; Follow-Up Studies ; Haplotypes ; Humans ; Immune response ; Immune system ; Lymphocytes T ; Male ; Medicine ; Medicine &amp; Public Health ; Metabolic Diseases ; Neoplasm Staging ; Original Article ; Polymerase Chain Reaction ; Polymorphism, Genetic - genetics ; Polymorphism, Restriction Fragment Length ; Prognosis ; Programmed Cell Death 1 Receptor - blood ; Programmed Cell Death 1 Receptor - genetics ; Thyroid Neoplasms - blood ; Thyroid Neoplasms - genetics ; Thyroid Neoplasms - pathology</subject><ispartof>Journal of endocrinological investigation, 2017-05, Vol.40 (5), p.481-486</ispartof><rights>Italian Society of Endocrinology (SIE) 2016</rights><rights>Copyright Springer Science &amp; Business Media 2017</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c372t-eb3daa8fb99092941ce8920f32a471239abd1fccb5514660bc82d03a5b3406183</citedby><cites>FETCH-LOGICAL-c372t-eb3daa8fb99092941ce8920f32a471239abd1fccb5514660bc82d03a5b3406183</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s40618-016-0579-5$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s40618-016-0579-5$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,41488,42557,51319</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/27943063$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Haghshenas, M. R.</creatorcontrib><creatorcontrib>Dabbaghmanesh, M. H.</creatorcontrib><creatorcontrib>Miri, A.</creatorcontrib><creatorcontrib>Ghaderi, A.</creatorcontrib><creatorcontrib>Erfani, N.</creatorcontrib><title>Association of PDCD1 gene markers with susceptibility to thyroid cancer</title><title>Journal of endocrinological investigation</title><addtitle>J Endocrinol Invest</addtitle><addtitle>J Endocrinol Invest</addtitle><description>Purpose 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]. Conclusion 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.</description><subject>Adenocarcinoma, Follicular - blood</subject><subject>Adenocarcinoma, Follicular - genetics</subject><subject>Adenocarcinoma, Follicular - pathology</subject><subject>Adenocarcinoma, Papillary - blood</subject><subject>Adenocarcinoma, Papillary - genetics</subject><subject>Adenocarcinoma, Papillary - pathology</subject><subject>Adult</subject><subject>Biomarkers, Tumor - blood</subject><subject>Biomarkers, Tumor - genetics</subject><subject>Case-Control Studies</subject><subject>Endocrinology</subject><subject>Female</subject><subject>Follow-Up Studies</subject><subject>Haplotypes</subject><subject>Humans</subject><subject>Immune response</subject><subject>Immune system</subject><subject>Lymphocytes T</subject><subject>Male</subject><subject>Medicine</subject><subject>Medicine &amp; Public Health</subject><subject>Metabolic Diseases</subject><subject>Neoplasm Staging</subject><subject>Original Article</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism, Genetic - genetics</subject><subject>Polymorphism, Restriction Fragment Length</subject><subject>Prognosis</subject><subject>Programmed Cell Death 1 Receptor - blood</subject><subject>Programmed Cell Death 1 Receptor - genetics</subject><subject>Thyroid Neoplasms - blood</subject><subject>Thyroid Neoplasms - genetics</subject><subject>Thyroid Neoplasms - pathology</subject><issn>1720-8386</issn><issn>0391-4097</issn><issn>1720-8386</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kE9LwzAYh4Mobk4_gBcJePFSzZ-2SY5j0ykM9KDnkKbpltk1M2mRfXszO2UInhLI8_7y_h4ALjG6xQixu5CiHPME4TxBGRNJdgSGmBGUcMrz44P7AJyFsEKIMsrZKRgQJlKKcjoEs3EITlvVWtdAV8GX6WSK4cI0Bq6Vfzc-wE_bLmHogjab1ha2tu0Wtg62y613toRaNdr4c3BSqTqYi_05Am8P96-Tx2T-PHuajOeJpoy0iSloqRSvCiGQICLF2nBBUEWJShkmVKiixJXWRZbhNM9RoTkpEVVZQb-70hG46XM33n10JrRybeNmda0a47ogMc9IHkFBInr9B125zjdxu0hxFutzRiOFe0p7F4I3ldx4G6tvJUZyZ1n2lmW0LHeWZRZnrvbJXbE25e_Ej9YIkB4I8alZGH_w9b-pX2abheA</recordid><startdate>20170501</startdate><enddate>20170501</enddate><creator>Haghshenas, M. 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R.</creatorcontrib><creatorcontrib>Dabbaghmanesh, M. H.</creatorcontrib><creatorcontrib>Miri, A.</creatorcontrib><creatorcontrib>Ghaderi, A.</creatorcontrib><creatorcontrib>Erfani, N.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of endocrinological investigation</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Haghshenas, M. R.</au><au>Dabbaghmanesh, M. H.</au><au>Miri, A.</au><au>Ghaderi, A.</au><au>Erfani, N.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Association of PDCD1 gene markers with susceptibility to thyroid cancer</atitle><jtitle>Journal of endocrinological investigation</jtitle><stitle>J Endocrinol Invest</stitle><addtitle>J Endocrinol Invest</addtitle><date>2017-05-01</date><risdate>2017</risdate><volume>40</volume><issue>5</issue><spage>481</spage><epage>486</epage><pages>481-486</pages><issn>1720-8386</issn><issn>0391-4097</issn><eissn>1720-8386</eissn><abstract>Purpose 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]. Conclusion 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.</abstract><cop>Cham</cop><pub>Springer International Publishing</pub><pmid>27943063</pmid><doi>10.1007/s40618-016-0579-5</doi><tpages>6</tpages></addata></record>
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subjects Adenocarcinoma, Follicular - blood
Adenocarcinoma, Follicular - genetics
Adenocarcinoma, Follicular - pathology
Adenocarcinoma, Papillary - blood
Adenocarcinoma, Papillary - genetics
Adenocarcinoma, Papillary - pathology
Adult
Biomarkers, Tumor - blood
Biomarkers, Tumor - genetics
Case-Control Studies
Endocrinology
Female
Follow-Up Studies
Haplotypes
Humans
Immune response
Immune system
Lymphocytes T
Male
Medicine
Medicine & Public Health
Metabolic Diseases
Neoplasm Staging
Original Article
Polymerase Chain Reaction
Polymorphism, Genetic - genetics
Polymorphism, Restriction Fragment Length
Prognosis
Programmed Cell Death 1 Receptor - blood
Programmed Cell Death 1 Receptor - genetics
Thyroid Neoplasms - blood
Thyroid Neoplasms - genetics
Thyroid Neoplasms - pathology
title Association of PDCD1 gene markers with susceptibility to thyroid cancer
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