title: No evidence for association of the TATA-box binding protein glutamine repeat sequence or the flanking chromosome 6q27 region with type 1 diabetes.
abstract: 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.
authors.affiliation: Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Wellcome Trust/MRC Building, Hills Road, Cambridge, UK.
authors.forename: Felicity
authors.initials: F
authors.lastname: Payne
authors.forename: Deborah J
authors.initials: DJ
authors.lastname: Smyth
authors.forename: Rebecca
authors.initials: R
authors.lastname: Pask
authors.forename: Jason D
authors.initials: JD
authors.lastname: Cooper
authors.forename: Jennifer
authors.initials: J
authors.lastname: Masters
authors.forename: William Y S
authors.initials: WY
authors.lastname: Wang
authors.forename: Lisa M
authors.initials: LM
authors.lastname: Godfrey
authors.forename: Georgina
authors.initials: G
authors.lastname: Bowden
authors.forename: Jeffrey
authors.initials: J
authors.lastname: Szeszko
authors.forename: Luc J
authors.initials: LJ
authors.lastname: Smink
authors.forename: Alex C
authors.initials: AC
authors.lastname: Lam
authors.forename: Oliver
authors.initials: O
authors.lastname: Burren
authors.forename: Neil M
authors.initials: NM
authors.lastname: Walker
authors.forename: Sarah
authors.initials: S
authors.lastname: Nutland
authors.forename: Helen
authors.initials: H
authors.lastname: Rance
authors.forename: Dag E
authors.initials: DE
authors.lastname: Undlien
authors.forename: Kjersti S
authors.initials: KS
authors.lastname: Rønningen
authors.forename: Cristian
authors.initials: C
authors.lastname: Guja
authors.forename: Constantin
authors.initials: C
authors.lastname: Ionescu-Tîrgovişte
authors.forename: John A
authors.initials: JA
authors.lastname: Todd
authors.forename: Rebecca C J
authors.initials: RC
authors.lastname: Twells
mesh_terms: D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D021901:DNA, Intergenic / Q000235:genetics*; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005973:Glutamine / Q000235:genetics*; D006801:Humans; D018895:Microsatellite Repeats / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics; D020449:Repetitive Sequences, Amino Acid / Q000235:genetics*; D035181:TATA-Box Binding Protein / Q000737:chemistry* / Q000235:genetics* / Q000378:metabolism
chemical_list: D021901:DNA, Intergenic; D035181:TATA-Box Binding Protein; D005973:Glutamine