CDKN2A Polymorphism in Melanoma Patients in Colombian Population: A Case-Control Study
Joint Authors
Pulido, Leonardo
Tovar-Parra, Jose D.
Gutiérrez-Castañeda, Luz D.
Gil-Quiñones, Sebastián R.
Nova, Jhon A.
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-9, 9 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-10-12
Country of Publication
Egypt
No. of Pages
9
Main Subjects
Abstract EN
Introduction.
Melanoma is the most aggressive type of skin cancer, with poor prognosis in advanced stages.
The incidence and mortality rates have increased in recent years.
Single nucleotide polymorphisms p.R24P, p.M53I, p.G101W, p.V126D, and p.A148T in the CDKN2A (HGNC ID: 1787) gene have been associated with the development of melanoma in different populations; however, this association has not been studied in Colombia.
Methods.
Cutaneous melanoma patients and healthy controls (85 cases and 166 controls) were included in this study.
These subjects were screened through HRM-qPCR assay and detected variants in exon 1 and 2 of CDKN2A gene and confirmed with Sanger sequencing.
Chi-square test was used to compare allele and genotype distributions between cases and controls.
Odds ratio (OR) with 95% confidence interval (CI) was calculated to determine the association between polymorphisms and haplotypes with melanoma susceptibility.
Statistical and haplotype analyses were performed using Stata® and R-Studio®.
Results.
Fifty-four percent of women were identified both in cases and controls.
The frequencies of melanoma subtypes were 36,47% lentigo maligna, 24,71% acral lentiginous, 23,53% superficial extension, and 15,29% nodular.
Variants in the CDKN2A gene were 11.76% in cases and 8.43% in controls.
The most frequent was p.A148T in 5.88% of cases and in 4.82% of controls.
GGTTG haplotype showed statistically significant differences between cases and controls (p value = 0.04).
Conclusion.
CDKN2A polymorphisms p.G101W, p.R24P, p.M53I, and A148T are not associated with melanoma susceptibility in the Colombian population; further studies regarding genetic interaction and additive effects between more variants are required.
American Psychological Association (APA)
Tovar-Parra, Jose D.& Gutiérrez-Castañeda, Luz D.& Gil-Quiñones, Sebastián R.& Nova, Jhon A.& Pulido, Leonardo. 2020. CDKN2A Polymorphism in Melanoma Patients in Colombian Population: A Case-Control Study. BioMed Research International،Vol. 2020, no. 2020, pp.1-9.
https://search.emarefa.net/detail/BIM-1136879
Modern Language Association (MLA)
Tovar-Parra, Jose D.…[et al.]. CDKN2A Polymorphism in Melanoma Patients in Colombian Population: A Case-Control Study. BioMed Research International No. 2020 (2020), pp.1-9.
https://search.emarefa.net/detail/BIM-1136879
American Medical Association (AMA)
Tovar-Parra, Jose D.& Gutiérrez-Castañeda, Luz D.& Gil-Quiñones, Sebastián R.& Nova, Jhon A.& Pulido, Leonardo. CDKN2A Polymorphism in Melanoma Patients in Colombian Population: A Case-Control Study. BioMed Research International. 2020. Vol. 2020, no. 2020, pp.1-9.
https://search.emarefa.net/detail/BIM-1136879
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1136879