Expression analysis of loci associated with type 2 diabetes in human tissues View Full Text


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Article Info

DATE

2010-08-12

AUTHORS

C. Cotsapas, L. Prokunina-Olsson, C. Welch, R. Saxena, C. Weaver, N. Usher, C. Guiducci, S. Bonakdar, N. Turner, B. LaCroix, J. L. Hall

ABSTRACT

Aims/hypothesisGenetic mapping has identified over 20 loci contributing to genetic risk of type 2 diabetes. The next step is to identify the genes and mechanisms regulating the contributions of genetic risk to disease. The goal of this study was to evaluate the effect of age, height, weight and risk alleles on expression of candidate genes in diabetes-associated regions in three relevant human tissues.MethodsWe measured transcript abundance for WFS1, KCNJ11, TCF2 (also known as HNF1B), PPARG, HHEX, IDE, CDKAL1, CDKN2A, CDKN2B, IGF2BP2, SLC30A8 and TCF7L2 by quantitative RT-PCR in human pancreas (n = 50), colon (n = 195) and liver (n = 50). Tissue samples were genotyped for single nucleotide polymorphisms (SNPs) associated with type 2 diabetes. The effects of age, height, weight, tissue and SNP on RNA expression were tested by linear modelling.ResultsExpression of all genes exhibited tissue bias. Immunohistochemistry confirmed the findings for HHEX, IDE and SLC30A8, which showed strongest tissue-specific mRNA expression bias. Neither age, height nor weight were associated with gene expression. We found no evidence that type 2 diabetes-associated SNPs affect neighbouring gene expression (cis-expression quantitative trait loci) in colon, pancreas and liver.Conclusions/interpretationThis study provides new evidence that tissue-type, but not age, height, weight or SNPs in or near candidate genes associated with increased risk of type 2 diabetes are strong contributors to differential gene expression in the genes and tissues examined. More... »

PAGES

2334-2339

References to SciGraph publications

  • 2009-06-30. Genomics of type 2 diabetes mellitus: implications for the clinician in NATURE REVIEWS ENDOCRINOLOGY
  • 2009-07-27. eQTL Analysis in Humans in CARDIOVASCULAR GENOMICS
  • 2007-09-16. Population genomics of human gene expression in NATURE GENETICS
  • 2007-10. A second generation human haplotype map of over 3.1 million SNPs in NATURE
  • Journal

    TITLE

    Diabetologia

    ISSUE

    11

    VOLUME

    53

    Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s00125-010-1861-2

    DOI

    http://dx.doi.org/10.1007/s00125-010-1861-2

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1038808165

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/20703447


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    41 schema:description Aims/hypothesisGenetic mapping has identified over 20 loci contributing to genetic risk of type 2 diabetes. The next step is to identify the genes and mechanisms regulating the contributions of genetic risk to disease. The goal of this study was to evaluate the effect of age, height, weight and risk alleles on expression of candidate genes in diabetes-associated regions in three relevant human tissues.MethodsWe measured transcript abundance for WFS1, KCNJ11, TCF2 (also known as HNF1B), PPARG, HHEX, IDE, CDKAL1, CDKN2A, CDKN2B, IGF2BP2, SLC30A8 and TCF7L2 by quantitative RT-PCR in human pancreas (n = 50), colon (n = 195) and liver (n = 50). Tissue samples were genotyped for single nucleotide polymorphisms (SNPs) associated with type 2 diabetes. The effects of age, height, weight, tissue and SNP on RNA expression were tested by linear modelling.ResultsExpression of all genes exhibited tissue bias. Immunohistochemistry confirmed the findings for HHEX, IDE and SLC30A8, which showed strongest tissue-specific mRNA expression bias. Neither age, height nor weight were associated with gene expression. We found no evidence that type 2 diabetes-associated SNPs affect neighbouring gene expression (cis-expression quantitative trait loci) in colon, pancreas and liver.Conclusions/interpretationThis study provides new evidence that tissue-type, but not age, height, weight or SNPs in or near candidate genes associated with increased risk of type 2 diabetes are strong contributors to differential gene expression in the genes and tissues examined.
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