No evidence for association of the TATA-box binding protein glutamine repeat sequence or the flanking chromosome 6q27 region with type 1 diabetes.
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.
Payne
Felicity
F
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.
Smyth
Deborah J
DJ
Pask
Rebecca
R
Cooper
Jason D
JD
Masters
Jennifer
J
Wang
William Y S
WY
Godfrey
Lisa M
LM
Bowden
Georgina
G
Szeszko
Jeffrey
J
Smink
Luc J
LJ
Lam
Alex C
AC
Burren
Oliver
O
Walker
Neil M
NM
Nutland
Sarah
S
Rance
Helen
H
Undlien
Dag E
DE
Rønningen
Kjersti S
KS
Guja
Cristian
C
Ionescu-Tîrgovişte
Constantin
C
Todd
John A
JA
Twells
Rebecca C J
RC
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
D021901:DNA, Intergenic; D035181:TATA-Box Binding Protein; D005973:Glutamine