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Poster (Scientific congresses and symposiums)
AIRE role in melanoma
Conteduca, Giuseppina
2008Italian Genetic association Congress
 

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Keywords :
AIRE; melanoma; SNPs
Abstract :
[it] Polymorphisms of AIRE, a transcription factor that up-regulates intrathymic expression of tissue-specific antigens including melanoma-associated antigens (MAAs), may variably affect the selection of MAAs-specific thymocytes, generating T-cell repertoires protecting or predisposing individuals to melanoma. We found that AIRE single nucleotide polymorphisms (SNPs) rs1055311, rs1800520 and rs1800522 were significantly more frequent in healthy subjects than in melanoma patients, independently from sex, age and stages of melanoma. The presence of these SNPs was associated with increased frequency of two T-cell clonotypes specific for MAGE-1 linking their protective effect to selection/expansion of MAA-specific T cells. Interestingly, mRNA transcribed on the rs1800520 SNP showed increased free energy than the wild type suggesting that its reduced stability may be responsible for the different activity of the polymorphic AIRE molecule. This finding may contribute at identifying subjects with increased risk of developing melanoma or patients with melanoma that may take benefit from immunotherapy.
Disciplines :
Genetics & genetic processes
Author, co-author :
Conteduca, Giuseppina ;  Università degli Studi di Genova,Italy > CEBR > Immunology > 2008
Language :
English
Title :
AIRE role in melanoma
Publication date :
2008
Event name :
Italian Genetic association Congress
Event organizer :
Italien Genetic Association
Event place :
Genova, Italy
Event date :
2008
Available on ORBi :
since 27 March 2015

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