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MHC2TA Single Nucleotide Polymorphism and Genetic Risk for Autoimmune Adrenal Insufficiency
Author(s) -
Mehran Ghaderi,
Giovanni Gambelunghe,
Cristina Tortoioli,
Annalisa Brozzetti,
Kenbugul Jatta,
Baback Gharizadeh,
Annamaria De Bellis,
Francesca Pecori Giraldi,
Massimo Terzolo,
Corrado Betterle,
Alberto Falorni
Publication year - 2006
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2006-0855
Subject(s) - adrenal insufficiency , single nucleotide polymorphism , genetics , polymorphism (computer science) , medicine , biology , immunology , genotype , gene
The polymorphism of class II HLA genes modulates the genetic risk for several endocrine autoimmune diseases. The constitutive class II expression on antigen-presenting cells is under the control of the MHC class II transactivator, encoded by the MHC2TA gene, which is mapped to chromosome 16p13. The MHC2TA -168 A-->G single nucleotide polymorphism (rs3087456) has been suggested to confer susceptibility to some autoimmune diseases.

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