Programmed cell death 1 (PDCD1) gene haplotypes and susceptibility of patients to basal cell carcinoma.
Adolescent
Adult
Aged
Aged, 80 and over
Carcinoma, Basal Cell
/ genetics
Case-Control Studies
Female
Gene Frequency
/ genetics
Genetic Predisposition to Disease
Haplotypes
/ genetics
Humans
Male
Middle Aged
Polymorphism, Single Nucleotide
/ genetics
Programmed Cell Death 1 Receptor
/ genetics
Skin Neoplasms
/ genetics
Young Adult
Basal cell carcinoma
Haplotype
Polymorphism
Programmed cell death-1
Journal
Molecular biology reports
ISSN: 1573-4978
Titre abrégé: Mol Biol Rep
Pays: Netherlands
ID NLM: 0403234
Informations de publication
Date de publication:
Mar 2021
Mar 2021
Historique:
received:
27
09
2020
accepted:
20
12
2020
pubmed:
4
1
2021
medline:
20
5
2021
entrez:
3
1
2021
Statut:
ppublish
Résumé
Programmed death-1 (PD-1), as an immunoinhibitory receptor encoded by programmed cell death-1 (PDCD1) gene, has a pivotal role in tolerance to self-antigens. Mutations of PDCD1 may participate in susceptibility to basal cell carcinoma (BCC) as the most common of skin cancer. We studied the impacts of two single nucleotide polymorphisms (SNPs) within PDCD1 and their haplotypes in BCC susceptibility in an Iranian population. The blood samples were collected from 210 BCC and 220 healthy individuals. After the extraction of genomic DNA, the genotypes and alleles of PD1.1 G/A (rs36084323) and PD1.6 G/A (rs10204525) SNPs were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Four haplotypes were estimated by these SNPs. Our data revealed that genotype and allele frequencies of PD1.1 and PD1.6 polymorphisms in BCC patients were similar to those in healthy individuals. The results of estimated haplotypes for PDCD1 indicated that GG and AA haplotypes of PDCD1 had protective effects on BCC susceptibility (OR = 0.7, 95% CI = 0.51-0.96, p = 0.03 and OR = 0.57, 95% CI = 0.35-0.91, p = 0.02, respectively), while GA and AG haplotypes served as the risk factors for developing BCC (OR = 1.76, 95% CI = 1.09-2.84, p = 0.02 and OR = 3.87, 95% CI = 1.95-7.69, p = <0.001, respectively). Based on these findings, frequency distributions of PDCD1 haplotypes have important roles in the determination of BCC development in the Iranian population. However, larger multicenter studies are required to confirm this conclusion.
Identifiants
pubmed: 33389528
doi: 10.1007/s11033-020-06115-w
pii: 10.1007/s11033-020-06115-w
doi:
Substances chimiques
PDCD1 protein, human
0
Programmed Cell Death 1 Receptor
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
2047-2052Subventions
Organisme : Kashan University of Medical Sciences
ID : 98019
Commentaires et corrections
Type : ErratumIn
Références
Sreekantaswamy S, Endo J, Chen C, Butler D, Morrison L, Linos E (2019) Aging and the treatment of basal cell carcinoma. Clin Dermatol 37(4):373–378
pubmed: 31345326
pmcid: 6952217
Peris K, Fargnoli MC, Garbe C, Kaufmann R, Bastholt L, Seguin NB et al (2019) Diagnosis and treatment of basal cell carcinoma: European consensus–based interdisciplinary guidelines. Eur J Cancer 118:10–34
pubmed: 31288208
Pópulo H, Boaventura P, Vinagre J, Batista R, Mendes A, Caldas R et al (2014) TERT promoter mutations in skin cancer: the effects of sun exposure and X-irradiation. J Invest Dermatol 134(8):2251–2257
pubmed: 24691053
Cameron MC, Lee E, Hibler BP, Barker CA, Mori S, Cordova M et al (2019) Basal cell carcinoma: epidemiology; pathophysiology; clinical and histological subtypes; and disease associations. J Am Acad Dermatol 80(2):303–317
pubmed: 29782900
Marzuka AG, Book SE (2015) Basal cell carcinoma: pathogenesis, epidemiology, clinical features, diagnosis, histopathology, and management. Yale J Biol Med 88(2):167–179
pubmed: 26029015
pmcid: 4445438
Wozniak-Rito A, Zalaudek I, Rudnicka L (2018) Dermoscopy of basal cell carcinoma. Clin Exp Dermatol 43(3):241–247
pubmed: 29341291
Tilli CM, Van Steensel MA, Krekels GA, Neumann HA, Ramaekers FC (2005) Molecular aetiology and pathogenesis of basal cell carcinoma. Br J Dermatol 152(6):1108–1124
pubmed: 15948971
Oh S-T, Lee J, Yang K-J, Bae J-M, Park H-J, Kim J-W et al (2018) Increased immunoreactivity of LGR4 in histologically aggressive basal cell carcinoma. Ann Dermatol 30(5):630–633
pubmed: 33911496
pmcid: 7992481
Pellegrini C, Maturo MG, Di Nardo L, Ciciarelli V, Gutiérrez García-Rodrigo C, Fargnoli MC (2017) Understanding the molecular genetics of basal cell carcinoma. Int J Mol Sci 18(11):2485
pmcid: 5713451
Zak-Prelich M, Narbutt J, Sysa-Jedrzejowska A (2004) Environmental risk factors predisposing to the development of basal cell carcinoma. Dermatol Surg 30(2 Pt 2):248–252
pubmed: 14871217
Zhang N, Tu J, Wang X, Chu QJI (2019) Programmed cell death-1/programmed cell death ligand-1 checkpoint inhibitors: differences in mechanism of action. Immunotherapy 11(5):429–441
pubmed: 30698054
Agina HA, Ehsan NA, Abd-Elaziz TA, Abd-Elfatah GA, Said EM, Sira MMJC et al (2019) Hepatic expression of programmed death-1 (PD-1) and its ligand, PD-L1, in children with autoimmune hepatitis: relation to treatment response. Clin Exp Hepatol 5(3):256
pubmed: 31598564
pmcid: 6781821
Sniadecki M, Swierzko A, Dabkowski M, Orlowska-Volk M, Wycinka E, Klasa-Mazurkiewicz D et al (2019) New therapeutic approaches in the treatment of node-positive cervical cancer patients based on molecular targets: a systematic review. Ginekol Pol 90(6):336–345
pubmed: 31276186
Constantinidou A, Alifieris C, Trafalis DT (2019) Targeting programmed cell death-1 (PD-1) and ligand (PD-L1): a new era in cancer active immunotherapy. Pharmacol Ther 194:84–106
pubmed: 30268773
Zak KM, Kitel R, Przetocka S, Golik P, Guzik K, Musielak B et al (2015) Structure of the complex of human programmed death 1, PD-1, and its ligand PD-L1. Structure 23(12):2341–2348
pubmed: 26602187
pmcid: 4752817
Zou W, Wolchok JD, Chen L (2016) PD-L1 (B7-H1) and PD-1 pathway blockade for cancer therapy: mechanisms, response biomarkers, and combinations. Sci Transl Med 8(328):328rv4–328rv4
pubmed: 26936508
pmcid: 4859220
Kao C, Oestreich KJ, Paley MA, Crawford A, Angelosanto JM, Ali M-AA et al (2011) Transcription factor T-bet represses expression of the inhibitory receptor PD-1 and sustains virus-specific CD8+ T cell responses during chronic infection. Nat Immunol 12(7):663
pubmed: 21623380
pmcid: 3306165
Deng L, Gyorffy B, Na F, Chen B, Lan J, Xue J et al (2015) Association of PDCD1 and CTLA-4 gene expression with clinicopathological factors and survival in non–small-cell lung cancer: results from a large and pooled microarray database. J Thorac Oncol 10(7):1020–1026
pubmed: 26134222
Dong Y, Sun Q, Zhang X (2017) PD-1 and its ligands are important immune checkpoints in cancer. Oncotarget 8(2):2171
pubmed: 27974689
Schütz F, Stefanovic S, Mayer L, von Au A, Domschke C, Sohn C (2017) PD-1/PD-L1 pathway in breast cancer. Oncol Res Treat 40(5):294–297
pubmed: 28346916
Suh KJ, Kim SH, Kim YJ, Kim M, Keam B, Kim TM et al (2018) Post-treatment neutrophil-to-lymphocyte ratio at week 6 is prognostic in patients with advanced non-small cell lung cancers treated with anti-PD-1 antibody. Cancer Immunol Immunother 67(3):459–470
pubmed: 29204702
McDermott DF, Atkins MB (2013) PD-1 as a potential target in cancer therapy. Cancer Med 2(5):662–673
pubmed: 24403232
pmcid: 3892798
Gatalica Z, Snyder C, Maney T (2014) Programmed cell death 1 (PD-1) and its ligand (PD-L1) in in common cancers and their correlation with molecular cancer type. Cancer Epidemiol Biomarker Prev 23(12):2965–2970
Chahal HS, Wu W, Ransohoff KJ, Yang L, Hedlin H, Desai M et al (2016) Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma. Nat Commun 7:12510
pubmed: 27539887
pmcid: 4992160
Li X, Liang L, De Vivo I, Tang JY, Han J (2016) Pathway analysis of expression-related SNPs on genome-wide association study of basal cell carcinoma. Oncotarget 7(24):36885
pubmed: 27367190
pmcid: 5095046
Hua Z, Li D, Xiang G, Xu F, Jie G, Fu Z et al (2011) PD-1 polymorphisms are associated with sporadic breast cancer in Chinese Han population of Northeast China. Breast Cancer Res Treat 129(1):195–201
pubmed: 21487727
Braun-Prado K, Petzl-Erler ML (2007) Programmed cell death 1 gene (PDCD1) polymorphism and pemphigus foliaceus (fogo selvagem) disease susceptibility. Genet Mol Biol 30(2):314–321
Fathi F, Ebrahimi M, Eslami A, Hafezi H, Eskandari N, Motedayyen H (2019) Association of programmed death-1 gene polymorphisms with the risk of basal cell carcinoma. Int J Immunogenet 46(6):444–450
pubmed: 31293069
Fathi F, Sadeghi E, Lotfi N, Hafezi H, Ahmadi M, Mozafarpoor S et al (2020) Effects of the programmed cell death 1 (PDCD1) polymorphisms in susceptibility to systemic lupus erythematosus. Int J Immunogenet 47(1):57–64
pubmed: 31565862
Shamsdin SA, Karimi MH, Hosseini SV, Geramizadeh B, Fattahi MR, Mehrabani D et al (2018) Associations of ICOS and PD. 1 gene variants with colon cancer risk in the Iranian population. Asian Pacific J Cancer Prev 19(3):693
Bichakjian CK, Olencki T, Aasi SZ, Alam M, Andersen JS, Berg D et al (2016) Basal cell skin cancer, version 1.2016, NCCN clinical practice guidelines in oncology. J Natl Compr Cancer Netw 14(5):574–597
D’incecco A, Andreozzi M, Ludovini V, Rossi E, Capodanno A, Landi L et al (2015) PD-1 and PD-L1 expression in molecularly selected non-small-cell lung cancer patients. Br J Cancer 112(1):95
pubmed: 25349974
Iwasaki JK, Srivastava D, Moy RL, Lin HJ, Kouba DJ (2012) The molecular genetics underlying basal cell carcinoma pathogenesis and links to targeted therapeutics. J Am Acad Dermatol 66(5):e167–ee78
pubmed: 20800318
De Marchi P, Melendez ME, Laus AC, Kuhlmann PA, de Carvalho AC, Arantes LMR et al (2019) The role of single-nucleotide polymorphism (SNPs) in toxicity of induction chemotherapy based on cisplatin and paclitaxel in patients with advanced head and neck cancer. Oral Oncol 98:48–52
pubmed: 31539757
Salmaninejad A, Khoramshahi V, Azani A, Soltaninejad E, Aslani S, Zamani MR et al (2018) PD-1 and cancer: molecular mechanisms and polymorphisms. Immunogenetics 70(2):73–86
pubmed: 28642997
Mahmoudi M, Rezaiemanesh A, Salmaninejad A, Harsini S, Poursani S, Bahrami T et al (2015) PDCD1 single nucleotide genes polymorphisms confer susceptibility to juvenile-onset systemic lupus erythematosus. Autoimmunity 48(7):488–493
pubmed: 26108738
De Re V, Tornesello ML, De Zorzi M, Caggiari L, Pezzuto F, Leone P et al (2019) Clinical significance of polymorphisms in immune response genes in hepatitis C-related hepatocellular carcinoma. Front Microbiol 10:475
pubmed: 30930876
pmcid: 6429030
Gomez G, Rinck-Junior J, Da Silva D, Mamoni R, Lourenço G, Moraes A et al (2017) 1230PModulation of risk and prognosis of cutaneous melanoma patients by genetic polymorphisms on PDCD1 gene. Ann Oncol 28(Suppl_5). https://doi.org/10.1093/annonc/mdx377.016
Li Y, Zhang H-L, Kang S, Zhou R-M, Wang N (2017) The effect of polymorphisms in PD-1 gene on the risk of epithelial ovarian cancer and patients’ outcomes. Gynecol Oncol 144(1):140–145
pubmed: 27836206
Da L-S, Zhang Y, Zhang C-J, Bu L-J, Zhu Y-Z, Ma T et al (2018) The PD-1 rs36084323 A > G polymorphism decrease cancer risk in Asian: a meta-analysis. Pathol Res Pract 214(11):1758–1764
pubmed: 30249505
Fathi F, Faghih Z, Khademi B, Kayedi T, Erfani N, Gahderi A (2019) PD-1 haplotype combinations and susceptibility of patients to squamous cell carcinomas of head and neck. Immunol Investig 48(1):1–10
Ren H-T, Li Y-M, Wang X-J, Kang H-F, Jin T-B, Ma X-B et al (2016) PD-1 rs2227982 polymorphism is associated with the decreased risk of breast cancer in Northwest Chinese Women: a hospital-based observational study. Medicine 95(21):e3760
pubmed: 27227944
pmcid: 4902368
Ni R, Ihara K, Miyako K, Kuromaru R, Inuo M, Kohno H et al (2007) PD-1 gene haplotype is associated with the development of type 1 diabetes mellitus in Japanese children. Hum Genet 121(2):223–232
pubmed: 17203303
Kong EKP, Prokunina-Olsson L, Wong WHS, Lau CS, Chan TM, Alarcón-Riquelme M et al (2005) A new haplotype of PDCD1 is associated with rheumatoid arthritis in Hong Kong Chinese. Arthritis Rheum 52(4):1058–1062
pubmed: 15818672
Ishizaki Y, Yukaya N, Kusuhara K, Kira R, Torisu H, Ihara K et al (2010) PD1 as a common candidate susceptibility gene of subacute sclerosing panencephalitis. Hum Genet 127(4):411–419
pubmed: 20066438
Zhang G, Li N, Zhang P, Li F, Yang C, Zhu Q et al (2014) PD-1 mRNA expression is associated with clinical and viral profile and PD1 3′-untranslated region polymorphism in patients with chronic HBV infection. Immunol Lett 162(1):212–216
pubmed: 25218665