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Susceptibility to the autoimmune disease type 1 diabetes has been linked to human chromosome 6q27 and, moreover, recently associated with one of the genes in the region, TATA box-binding protein (TBP). Using a much larger sample of T1D families than those studied by others, and by extensive re-sequencing of nine other genes in the proximity, in which we identified 279 polymorphisms, 83 of which were genotyped in up to 725 T1D multiplex and simplex families, we obtained no evidence for association of the TBP CAG/CAA (glutamine) microsatellite repeat sequence with disease, or for nine other genes, PDCD2, PSMB1, KIAA1838, DLL1, dJ894D12.4, FLJ25454, FLJ13162, FLJ11152, PHF10 and CCR6. This study also provides an exon-based tag single nucleotide polymorphism map for these 10 genes that can be used for analysis of other diseases.

Original publication




Journal article


Biochem Biophys Res Commun

Publication Date





435 - 441


Chromosomes, Human, Pair 6, DNA, Intergenic, Diabetes Mellitus, Type 1, Genetic Predisposition to Disease, Glutamine, Humans, Microsatellite Repeats, Polymorphism, Genetic, Repetitive Sequences, Amino Acid, TATA-Box Binding Protein