Association of programmed death-1 gene polymorphisms with the risk of basal cell carcinoma

Fathi, F. and Ebrahimi, M. and Eslami, A. and Hafezi, H. and Eskandari, N. and Motedayyen, H. (2019) Association of programmed death-1 gene polymorphisms with the risk of basal cell carcinoma. International Journal of Immunogenetics, 46 (6). pp. 444-450.

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Environmental and genetic factors play a fundamental role in the pathogenesis of basal cell carcinoma (BCC) defined as the most common cancer of skin. Programmed death-1 (PD-1), encoded by programmed cell death-1 (PDCD1) gene, serves as an inhibitory molecule in the suppression of immune responses and a risk factor in the development of different cancers. In this study, we investigated the role of two single nucleotide polymorphisms (SNPs) within PDCD1 gene, and haplotypes defined by these SNPs, in the development of BCC in an Iranian population. Whole blood samples were obtained from 210 BCC and 320 healthy subjects. Genomic DNA was extracted from whole blood samples, polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to genotype determinations of PD1.3 (rs11568821) and PD1.5 (rs2227981) SNPs, and 4 haplotypes were constructed by PDCD1 SNPs. The frequency of G allele of PD1.3 was significantly higher in BCC patients than healthy subjects (p < 0.02), while these significant differences were not observed in the frequencies of PD1.5 alleles between BCC and healthy subjects. Moreover, we found that there were no statistically significant differences in PD1.3 and PD1.5 genotypes between BCC and control groups. Of all estimated haplotypes for PDCD1, only AC haplotype was associated with BCC (OR = 0.22, 95 CI = 0.06�0.79, p < 0.01). These findings suggest that PD1.3G allele and AC haplotype of PDCD1 contribute to BCC in the Iranian population. However, further studies in different populations with larger sample size are required to confirm this study. © 2019 John Wiley & Sons Ltd

Item Type: Article
Additional Information: cited By 1
Uncontrolled Keywords: genomic DNA; programmed death 1 receptor, adult; aged; apoptosis; Article; basal cell carcinoma; blood sampling; cancer patient; cancer risk; carcinogenesis; controlled study; DNA extraction; female; gene frequency; genetic association; genotype; haplotype; human; human cell; Iranian (citizen); major clinical study; male; molecular pathology; occupational exposure; polymerase chain reaction restriction fragment length polymorphism; priority journal; single nucleotide polymorphism
Subjects: Biochemistry, Genetics and Molecular Biology
Immunology and Microbiology
Divisions: Faculty of Medicine > Basic Sciences > Department of Microbiology & Immunology
Depositing User: ART . editor
Date Deposited: 04 Jan 2020 15:38
Last Modified: 04 Jan 2020 15:38

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