A Variant in theBACH2Gene Is Associated With Susceptibility to Autoimmune Addison’s Disease in Humans
Author(s) -
Agnieszka Pazderska,
Bergithe E Oftedal,
Catherine Napier,
Holly F. Ainsworth,
Eystein S. Husebye,
Heather J. Cordell,
Simon H. S. Pearce,
Anna L. Mitchell
Publication year - 2016
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.2016-2368
Subject(s) - odds ratio , single nucleotide polymorphism , medicine , snp , cohort , genotype , minor allele frequency , allele , confidence interval , case control study , polymorphism (computer science) , taqman , immunology , gastroenterology , genetics , gene , biology , real time polymerase chain reaction
Autoimmune Addison's disease (AAD) is a rare but highly heritable condition. The BACH2 protein plays a crucial role in T lymphocyte maturation, and allelic variation in its gene has been associated with a number of autoimmune conditions.
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