The role of AIRE polymorphisms in melanoma.

[en] 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.

Research center :

Centre of Excellence for Biomedical Research

Disciplines :

Genetics & genetic processes

Author, co-author :

Conteduca, Giuseppina ; Università degli studi di Genova, Italy > CEBR > Immunology > 2010

Language :

English

Title :

The role of AIRE polymorphisms in melanoma.

Publication date :

July 2010

Journal title :

Clinical Immunology

ISSN :

1521-6616

eISSN :

1521-7035

Publisher :

Academic Press, San Diego, United States - California

Volume :

136

Issue :

Pages :

96-104

Peer reviewed :

Peer Reviewed verified by ORBi

Additional URL :

http://www.sciencedirect.com

Name of the research project :

AIRE in melanoma

Funders :

AIRC, San Paolo, Carige

Available on ORBi :

since 27 March 2015

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