Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study

Newby, Paul R., Pickles, Oliver J., Mazumdar, Samaresh, Brand, Oliver J., Carr-Smith, Jaqueline D., Pearce, Simon H. S., Franklyn, Jayne A., Wellcome Trust Case Control Consortium, Evans, David M., Simmonds, Matthew J., Gough, Stephen C. L., Brown, Matthew A., Bradbury, Linda and Pointon, Jennifer (2010) Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study. European Journal of Human Genetics, 18 9: 1021-1026. doi:10.1038/ejhg.2010.55

Attached Files (Some files may be inaccessible until you login with your UQ eSpace credentials)
Name Description MIMEType Size Downloads

Author Newby, Paul R.
Pickles, Oliver J.
Mazumdar, Samaresh
Brand, Oliver J.
Carr-Smith, Jaqueline D.
Pearce, Simon H. S.
Franklyn, Jayne A.
Wellcome Trust Case Control Consortium
Evans, David M.
Simmonds, Matthew J.
Gough, Stephen C. L.
Brown, Matthew A.
Bradbury, Linda
Pointon, Jennifer
Title Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study
Journal name European Journal of Human Genetics   Check publisher's open access policy
ISSN 1018-4813
Publication date 2010-09-01
Sub-type Article (original research)
DOI 10.1038/ejhg.2010.55
Volume 18
Issue 9
Start page 1021
End page 1026
Total pages 6
Place of publication United Kingdom
Publisher Nature Publishing Group
Language eng
Formatted abstract
A recent association scan using a genome-wide set of nonsynonymous coding single-nucleotide polymorphisms (nsSNPs) conducted in four diseases including Graves' disease (GD), identified nine novel possible regions of association with GD. We used a case-control approach in an attempt to replicate association of these nine regions in an independent collection of 1578 British GD patients and 1946 matched Caucasian controls. Although none of these loci showed evidence of association with GD in the independent data set, when combined with the original Wellcome Trust Case-Control Consortium study group, minor differences in allele frequencies (P≥10-3) remained in the combined collection of 5924 subjects for four of the nsSNPs, present within HDLBP, TEKT1, JSRP1 and UTX. An additional 29 Tag SNPs were screened within these four gene regions to determine if further associations could be detected. Similarly, minor differences only (P=0.042-0.002) were detected in two HDLBP and two TEKT1 Tag SNPs in the combined UK GD collection. In conclusion, it is unlikely that the SNPs selected in this replication study have a significant effect on the risk of GD in the United Kingdom. Our study confirms the need for large data sets and stringent analysis criteria when searching for susceptibility loci in common diseases. © 2010 Macmillan Publishers Limited All rights reserved.
Keyword Genome-wide screening
Graves' disease
Nonsynonymous SNPS
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2011 Collection
UQ Diamantina Institute Publications
 
Versions
Version Filter Type
Citation counts: TR Web of Science Citation Count  Cited 9 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 11 times in Scopus Article | Citations
Google Scholar Search Google Scholar
Created: Thu, 03 Mar 2011, 02:16:37 EST by Kylie Hengst on behalf of UQ Diamantina Institute