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

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Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study. / Newby, Paul; Pickles, OJ; Mazumdar, S; Brand, OJ; Carr-Smith, Jacqueline; Pearce, SHS; Franklyn, Jayne; Evans, DM; Simmonds, MJ; Gough, Stephen.

In: European Journal of Human Genetics, Vol. 18, No. 9, 01.09.2010, p. 1021-1026.

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Newby, Paul ; Pickles, OJ ; Mazumdar, S ; Brand, OJ ; Carr-Smith, Jacqueline ; Pearce, SHS ; Franklyn, Jayne ; Evans, DM ; Simmonds, MJ ; Gough, Stephen. / Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study. In: European Journal of Human Genetics. 2010 ; Vol. 18, No. 9. pp. 1021-1026.

Bibtex

@article{96b72d81b57048429293077835628234,
title = "Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study",
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. European Journal of Human Genetics (2010) 18, 1021-1026; doi:10.1038/ejhg.2010.55; published online 5 May 2010",
keywords = "nonsynonymous SNPs, genome-wide screening, Graves' disease",
author = "Paul Newby and OJ Pickles and S Mazumdar and OJ Brand and Jacqueline Carr-Smith and SHS Pearce and Jayne Franklyn and DM Evans and MJ Simmonds and Stephen Gough",
year = "2010",
month = sep,
day = "1",
doi = "10.1038/ejhg.2010.55",
language = "English",
volume = "18",
pages = "1021--1026",
journal = "European Journal of Human Genetics",
issn = "1018-4813",
publisher = "Nature Publishing Group",
number = "9",

}

RIS

TY - JOUR

T1 - Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study

AU - Newby, Paul

AU - Pickles, OJ

AU - Mazumdar, S

AU - Brand, OJ

AU - Carr-Smith, Jacqueline

AU - Pearce, SHS

AU - Franklyn, Jayne

AU - Evans, DM

AU - Simmonds, MJ

AU - Gough, Stephen

PY - 2010/9/1

Y1 - 2010/9/1

N2 - 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. European Journal of Human Genetics (2010) 18, 1021-1026; doi:10.1038/ejhg.2010.55; published online 5 May 2010

AB - 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. European Journal of Human Genetics (2010) 18, 1021-1026; doi:10.1038/ejhg.2010.55; published online 5 May 2010

KW - nonsynonymous SNPs

KW - genome-wide screening

KW - Graves' disease

U2 - 10.1038/ejhg.2010.55

DO - 10.1038/ejhg.2010.55

M3 - Article

C2 - 20442750

VL - 18

SP - 1021

EP - 1026

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - 9

ER -