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No association of the IRS1 and PAX4 genes with type I diabetes

Bergholdt, R.; Brorsson, Caroline LU ; Boehm, B.; Morahan, G. and Pociot, Flemming (2009) In Genes and Immunity 10. p.49-53
Abstract
To reassess earlier suggested type I diabetes (T1D) associations of the insulin receptor substrate 1 (IRS1) and the paired domain 4 gene (PAX4) genes, the Type I Diabetes Genetics Consortium (T1DGC) evaluated single-nucleotide polymorphisms (SNPs) covering the two genomic regions. Sixteen SNPs were evaluated for IRS1 and 10 for PAX4. Both genes are biological candidate genes for T1D. Genotyping was performed in 2300 T1D families on both Illumina and Sequenom genotyping platforms. Data quality and concordance between the platforms were assessed for each SNP. Transmission disequilibrium testing neither show T1D association of SNPs in the two genes, nor did haplotype analysis. In conclusion, the earlier suggested associations of IRS1 and PAX4... (More)
To reassess earlier suggested type I diabetes (T1D) associations of the insulin receptor substrate 1 (IRS1) and the paired domain 4 gene (PAX4) genes, the Type I Diabetes Genetics Consortium (T1DGC) evaluated single-nucleotide polymorphisms (SNPs) covering the two genomic regions. Sixteen SNPs were evaluated for IRS1 and 10 for PAX4. Both genes are biological candidate genes for T1D. Genotyping was performed in 2300 T1D families on both Illumina and Sequenom genotyping platforms. Data quality and concordance between the platforms were assessed for each SNP. Transmission disequilibrium testing neither show T1D association of SNPs in the two genes, nor did haplotype analysis. In conclusion, the earlier suggested associations of IRS1 and PAX4 to T1D were not supported, suggesting that they may have been false positive results. This highlights the importance of thorough quality control, selection of tagging SNPs, more than one genotyping platform in high throughput studies, and sufficient power to draw solid conclusions in genetic studies of human complex diseases. Genes and Immunity (2009) 10, S49-S53; doi:10.1038/gene.2009.91 (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
type I diabetes, IRS1, PAX4, polymorphism, single-nucleotide, autoimmune disease, genetic susceptibility
in
Genes and Immunity
volume
10
pages
49 - 53
publisher
Nature Publishing Group
external identifiers
  • wos:000272419900008
  • scopus:75649149543
ISSN
1476-5470
DOI
10.1038/gene.2009.91
language
English
LU publication?
yes
id
2aa44f84-c4ad-4f57-a713-ef4e13244a5b (old id 1533518)
date added to LUP
2010-01-27 15:54:36
date last changed
2017-01-01 05:10:03
@article{2aa44f84-c4ad-4f57-a713-ef4e13244a5b,
  abstract     = {To reassess earlier suggested type I diabetes (T1D) associations of the insulin receptor substrate 1 (IRS1) and the paired domain 4 gene (PAX4) genes, the Type I Diabetes Genetics Consortium (T1DGC) evaluated single-nucleotide polymorphisms (SNPs) covering the two genomic regions. Sixteen SNPs were evaluated for IRS1 and 10 for PAX4. Both genes are biological candidate genes for T1D. Genotyping was performed in 2300 T1D families on both Illumina and Sequenom genotyping platforms. Data quality and concordance between the platforms were assessed for each SNP. Transmission disequilibrium testing neither show T1D association of SNPs in the two genes, nor did haplotype analysis. In conclusion, the earlier suggested associations of IRS1 and PAX4 to T1D were not supported, suggesting that they may have been false positive results. This highlights the importance of thorough quality control, selection of tagging SNPs, more than one genotyping platform in high throughput studies, and sufficient power to draw solid conclusions in genetic studies of human complex diseases. Genes and Immunity (2009) 10, S49-S53; doi:10.1038/gene.2009.91},
  author       = {Bergholdt, R. and Brorsson, Caroline and Boehm, B. and Morahan, G. and Pociot, Flemming},
  issn         = {1476-5470},
  keyword      = {type I diabetes,IRS1,PAX4,polymorphism,single-nucleotide,autoimmune disease,genetic susceptibility},
  language     = {eng},
  pages        = {49--53},
  publisher    = {Nature Publishing Group},
  series       = {Genes and Immunity},
  title        = {No association of the IRS1 and PAX4 genes with type I diabetes},
  url          = {http://dx.doi.org/10.1038/gene.2009.91},
  volume       = {10},
  year         = {2009},
}