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Differential methylation of the type 2 diabetes susceptibility locus KCNQ1 is associated with insulin sensitivity and is predicted by CpG site specific genetic variation.

Ushma J Shah | Weijia Xie | Allan Flyvbjerg | John J Nolan | Kurt Højlund | Mark Walker | Caroline L Relton | Hannah R Elliott | RISC consortium
Diabetes research and clinical practice | 2019

Epigenetic mechanisms regulate gene expression and may influence the pathogenesis of type 2 diabetes through the loss of insulin sensitivity. The aims of this study were to measure variation in DNA methylation at the type 2 diabetes locus KCNQ1 and assess its relationship with metabolic measures and with genotype.

Pubmed ID: 30641161

Research resources used in this publication

None found

Antibodies used in this publication

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Associated grants

  • Agency: Medical Research Council, United Kingdom
    Id: MC_UU_00011/5
  • Agency: Medical Research Council, United Kingdom
    Id: MC_UU_12013/2

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This is a list of tools and resources that we have found mentioned in this publication.


Haploview (tool)

RRID:SCR_003076

A Java based software tool designed to simplify and expedite the process of haplotype analysis by providing a common interface to several tasks relating to such analyses. Haploview currently allows users to examine block structures, generate haplotypes in these blocks, run association tests, and save the data in a number of formats. All functionalities are highly customizable. (entry from Genetic Analysis Software) * LD & haplotype block analysis * haplotype population frequency estimation * single SNP and haplotype association tests * permutation testing for association significance * implementation of Paul de Bakker's Tagger tag SNP selection algorithm. * automatic download of phased genotype data from HapMap * visualization and plotting of PLINK whole genome association results including advanced filtering options Haploview is fully compatible with data dumps from the HapMap project and the Perlegen Genotype Browser. It can analyze thousands of SNPs (tens of thousands in command line mode) in thousands of individuals. Note: Haploview is currently on a development and support freeze. The team is currently looking at a variety of options in order to provide support for the software. Haploview is an open source project hosted by SourceForge. The source can be downloaded at the SourceForge project site.

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UCSC Genome Browser (tool)

RRID:SCR_005780

Portal to interactively visualize genomic data. Provides reference sequences and working draft assemblies for collection of genomes and access to ENCODE and Neanderthal projects. Includes collection of vertebrate and model organism assemblies and annotations, along with suite of tools for viewing, analyzing and downloading data.

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MACH (tool)

RRID:SCR_009621

QTL analysis based on imputed dosages/posterior_probabilities.

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Stata (tool)

RRID:SCR_012763

A Software resource for statistical analysis and presentation of graphics.

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