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Programmed cell death 1 (PDCD1) gene haplotypes and susceptibility of patients to basal cell carcinoma

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A Correction to this article was published on 01 March 2021

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Abstract

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.

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Acknowledgements

The authors appreciate the collaborations of all subjects in the study.

Funding

This study was supported by grant (Grant No: 98019) from Kashan University of Medical Sciences.

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Authors and Affiliations

  1. Department of Immunology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran

    Farshid Fathi

  2. Autoimmune Diseases Research Center, Kashan University of Medical Sciences, Kashan, Iran

    Batool Zamani & Ahmad Piroozmand

  3. Department of Microbiology, Faculty of Medicine, Kashan University of Medical Sciences, Kashan, Iran

    Ahmad Piroozmand

  4. Department of Dermatology, Isfahan University of Medical Sciences, Isfahan, Iran

    Samaneh Mozafarpoor

  5. Department of Genetics, Faculty of Advanced Science and Technology, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran

    Effat Seyedhashemi

  6. Department of Anatomy, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran

    Reza ArefNezhad

  7. Autoimmune Diseases Research Center, Shahid Beheshti Hospital, Kashan University of Medical Sciences, 5th kilometer of Ravand Road, Kashan, Iran

    Hossein Motedayyen

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  1. Farshid Fathi
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Contributions

FF and BZ carried out some of the experiments. AP participated in the design of some experiments. SM participated in the disease diagnosis and sample collections. ES performed some of the experiments and participated in statistical analysis of the data. HM participated in the study design, drafted the manuscript, and obtained funding for the work. The authors read and approved the final version of manuscript.

Corresponding author

Correspondence to Hossein Motedayyen.

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The authors have no conflict of interest.

Ethical approval

This work was confirmed by the Ethics Committee of Kashan University of Medical Sciences (ethic code: IR.KAUMS.MEDNT.REC.1398.037).

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Informed consent was obtained from all subjects before entering the study.

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Fathi, F., Zamani, B., Piroozmand, A. et al. Programmed cell death 1 (PDCD1) gene haplotypes and susceptibility of patients to basal cell carcinoma. Mol Biol Rep 48, 2047–2052 (2021). https://doi.org/10.1007/s11033-020-06115-w

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