A Large French Case-Control Study Emphasizes the Role of Rare Mc1R Variants in Melanoma Risk
Joint Authors
Bourillon, Agnès
Saiag, Philippe
Hu, Hui-Han
Bensussan, Armand
Grandchamp, Bernard
Bagot, Martine
Benfodda, Mériem
Descamps, Vincent
Dumaz, Nicolas
Basset-Seguin, Nicole
Gazal, Steven
Riffault, Angélique
Soufir, Nadem
Ezzedine, Khaled
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-10, 10 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-04-10
Country of Publication
Egypt
No. of Pages
10
Main Subjects
Abstract EN
Background.
The MC1R gene implicated in melanogenesis and skin pigmentation is highly polymorphic.
Several alleles are associated with red hair and fair skin phenotypes and contribute to melanoma risk.
Objective.
This work aims to assess the effect of different classes of MC1R variants, notably rare variants, on melanoma risk.
Methods.
MC1R coding region was sequenced in 1131 melanoma patients and 869 healthy controls.
MC1R variants were classified as RHC (R) and non-RHC (r).
Rare variants (frequency < 1%) were subdivided into two subgroups, predicted to be damaging (D) or not (nD).
Results.
Both R and r alleles were associated with melanoma (OR = 2.66 [2.20–3.23] and 1.51 [1.32–1.73]) and had similar population attributable risks (15.8% and 16.6%).
We also identified 69 rare variants, of which 25 were novel.
D variants were strongly associated with melanoma (OR = 2.38 [1.38–4.15]) and clustered in the same MC1R domains as R alleles (intracellular 2, transmembrane 2 and 7).
Conclusion.
This work confirms the role of R and r alleles in melanoma risk in the French population and proposes a novel class of rare D variants as important melanoma risk factors.
These findings may improve the definition of high-risk subjects that could be targeted for melanoma prevention and screening.
American Psychological Association (APA)
Hu, Hui-Han& Benfodda, Mériem& Dumaz, Nicolas& Gazal, Steven& Descamps, Vincent& Bourillon, Agnès…[et al.]. 2014. A Large French Case-Control Study Emphasizes the Role of Rare Mc1R Variants in Melanoma Risk. BioMed Research International،Vol. 2014, no. 2014, pp.1-10.
https://search.emarefa.net/detail/BIM-508615
Modern Language Association (MLA)
Hu, Hui-Han…[et al.]. A Large French Case-Control Study Emphasizes the Role of Rare Mc1R Variants in Melanoma Risk. BioMed Research International No. 2014 (2014), pp.1-10.
https://search.emarefa.net/detail/BIM-508615
American Medical Association (AMA)
Hu, Hui-Han& Benfodda, Mériem& Dumaz, Nicolas& Gazal, Steven& Descamps, Vincent& Bourillon, Agnès…[et al.]. A Large French Case-Control Study Emphasizes the Role of Rare Mc1R Variants in Melanoma Risk. BioMed Research International. 2014. Vol. 2014, no. 2014, pp.1-10.
https://search.emarefa.net/detail/BIM-508615
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-508615