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

Newby, Paul R. and Pickles, Oliver J. and Mazumdar, Samaresh and Brand, Oliver J. and Carr-Smith, Jacqueline D. and Pearce, Simon H. S. and Franklyn, Jayne A. and Evans, David M. and Simmonds, Matthew J. and Gough, Stephen C. L. and Welcome Trust Case-Control Consortium (WTCCC), . (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). pp. 1021-1026. ISSN 1018-4813

Full content URL: http://www.nature.com/ejhg/journal/v18/n9/full/ejh...

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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 smaller than or equal to 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.

Keywords:article, case control study, controlled study, follow up, gene, gene frequency, gene identification, gene locus, gene replication, genetic association, genetic risk, genetic screening, genetic susceptibility, genotype, Graves disease, HDLBP gene, human, JSRP1 gene, major clinical study, priority journal, single nucleotide polymorphism, TEKT1 gene, UTX gene, Genome-Wide Association Study, Great Britain, Humans, Polymorphism, Single Nucleotide
Subjects:C Biological Sciences > C420 Human Genetics
Divisions:College of Science > School of Life Sciences
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ID Code:22607
Deposited On:01 Apr 2016 09:22

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