A Large French Case-Control Study Emphasizes the Role of Rare Mc1R Variants in Melanoma Risk
المؤلفون المشاركون
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
المصدر
العدد
المجلد 2014، العدد 2014 (31 ديسمبر/كانون الأول 2014)، ص ص. 1-10، 10ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2014-04-10
دولة النشر
مصر
عدد الصفحات
10
التخصصات الرئيسية
الملخص 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.
نمط استشهاد جمعية علماء النفس الأمريكية (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
نمط استشهاد الجمعية الأمريكية للغات الحديثة (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
نمط استشهاد الجمعية الطبية الأمريكية (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
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-508615
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر