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A cis-acting regulatory variant in the IL2RA locus.
J Immunol
October 2009
Endocrine Genetics Lab, The McGill University Health Center and Montreal Children's Hospital, Montréal, Québec, Canada.
The mechanism for the association of type 1 diabetes (T1D) with IL2RA remains to be clarified. Neither of the two distinct, transmission-disequilibrium confirmed loci mapping to this gene can be explained by a coding variant. An effect on the levels of the soluble protein product sIL-2RA has been reported but its cause and relationship to disease risk is not clear.
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