PDCD1 gene polymorphisms as regulators of T-lymphocyte activity in cutaneous melanoma risk and prognosis

Author(s)

Gomez, Gabriela V. B. ^[1] ; Rinck-Junior, Jose A. ^[1] ; Oliveira, Cristiane ^[1] ; Silva, Dennis H. L. ^[2] ; Mamoni, Ronei L. ^[2] ; Lourenco, Gustavo J. ^[3] ; Moraes, Aparecida M. ^[1] ; Lima, Carmen S. P. ^[1]

Affiliation

^[1] Univ Estadual Campinas, Fac Med Sci, Dept Internal Med, Clin Oncol Serv, Campinas, SP - Brazil

^[2] Univ Estadual Campinas, Fac Med Sci, Dept Clin Pathol, Campinas, SP - Brazil

^[3] Univ Estadual Campinas, Fac Med Sci, Lab Canc Genet, Campinas, SP - Brazil

• Document type: Journal article
• Source: PIGMENT CELL & MELANOMA RESEARCH; v. 31, n. 2 MAR 2018.
• Web of Science Citations: 3

Abstract

This study aimed to evaluate whether PD1.1 (c.-606G>A), PD1 (c.627 + 252C>T), PD1.5 (c.804C>T), and PD1.9 (c.644C>T) single nucleotide polymorphisms of PDCD1 gene influence the risk, clinicopathological aspects, and survival of cutaneous melanoma (CM). Individuals with phototype I or II and PD1 CC genotype were under 5.89-fold increased risk of developing CM. PD1.5 TT genotype increased PDCD1 expression (2.49 versus 1.28 arbitrary units, p = .03) and PD1.5 CT or TT genotype and allele T increased PD1 expression in TCD4(+) lymphocytes (16.6 versus 12.5%, p = .01; 17.0 versus 13.1%, p = .006). At 60 months of follow-up, short recurrence-free survival was seen in patients with PD1.1 AA genotype (33.3 versus 71.8%, p = .03). Patients with PD1.1 AA and PD1.5 CC genotype had 4.21 and 2.62 more chances of presenting relapse and evolving death by disease in Cox analyses, respectively. Our data provide preliminary evidence that abnormalities in regulation of T lymphocyte alter CM risk, clinical aspects, and prognosis. (AU)

• FAPESP's process: 14/10042-5 - Influence of the PDCD1 polymorphisms, related to activity of T lymphocytes, in gene expression and susceptibility to cutaneous melanoma
• Grantee: Gabriela Vilas Bôas Gomez
• Support type: Scholarships in Brazil - Master