Article
Amino acid substitutions in the thyroglobulin gene are associated with susceptibility to human and murine autoimmune thyroid disease.
Proceedings of the National Academy of Sciences of the United States of America - 9 Dec 2003
Ban Yoshiyuki, Greenberg David A, Concepcion Erlinda, Skrabanek Lucy, Villanueva Ronald, Tomer Yaron
Abstract excerpt
The 8q24 locus, which contains the thyroglobulin (Tg) gene, was previously shown to be strongly linked with autoimmune thyroid disease (AITD). We sequenced all 48 exons of the Tg gene and identified 14 single-nucleotide polymorphisms (SNPs). Case control association studies demonstrated that an exon 10-12 SNP cluster and an exon 33 SNP were significantly associated with AITD (P < 0.01). Haplotype analysis...
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