Mayo Genome Consortia: a genotype-phenotype resource for genome-wide association studies with an application to the analysis of circulating bilirubin levels. Academic Article uri icon

Overview

MeSH

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Cohort Studies
  • Cost-Benefit Analysis
  • Electronic Health Records
  • Female
  • Humans
  • Male
  • Middle Aged
  • Phenotype
  • Solute Carrier Organic Anion Transporter Family Member 1b1
  • Young Adult

MeSH Major

  • Bilirubin
  • Genome-Wide Association Study
  • Glucuronosyltransferase
  • Organic Anion Transporters
  • Polymorphism, Genetic

abstract

  • To create a cohort for cost-effective genetic research, the Mayo Genome Consortia (MayoGC) has been assembled with participants from research studies across Mayo Clinic with high-throughput genetic data and electronic medical record (EMR) data for phenotype extraction. Eligible participants include those who gave general research consent in the contributing studies to share high-throughput genotyping data with other investigators. Herein, we describe the design of the MayoGC, including the current participating cohorts, expansion efforts, data processing, and study management and organization. A genome-wide association study to identify genetic variants associated with total bilirubin levels was conducted to test the genetic research capability of the MayoGC. Genome-wide significant results were observed on 2q37 (top single nucleotide polymorphism, rs4148325; P=5.0 × 10(-62)) and 12p12 (top single nucleotide polymorphism, rs4363657; P=5.1 × 10(-8)) corresponding to a gene cluster of uridine 5'-diphospho-glucuronosyltransferases (the UGT1A cluster) and solute carrier organic anion transporter family, member 1B1 (SLCO1B1), respectively. Genome-wide association studies have identified genetic variants associated with numerous phenotypes but have been historically limited by inadequate sample size due to costly genotyping and phenotyping. Large consortia with harmonized genotype data have been assembled to attain sufficient statistical power, but phenotyping remains a rate-limiting factor in gene discovery research efforts. The EMR consists of an abundance of phenotype data that can be extracted in a relatively quick and systematic manner. The MayoGC provides a model of a unique collaborative effort in the environment of a common EMR for the investigation of genetic determinants of diseases.

publication date

  • July 2011

has subject area

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Bilirubin
  • Cohort Studies
  • Cost-Benefit Analysis
  • Electronic Health Records
  • Female
  • Genome-Wide Association Study
  • Glucuronosyltransferase
  • Humans
  • Male
  • Middle Aged
  • Organic Anion Transporters
  • Phenotype
  • Polymorphism, Genetic
  • Solute Carrier Organic Anion Transporter Family Member 1b1
  • Young Adult

Research

keywords

  • Journal Article

Identity

Language

  • eng

PubMed Central ID

  • PMC3127556

Digital Object Identifier (DOI)

  • 10.4065/mcp.2011.0178

PubMed ID

  • 21646302

Additional Document Info

start page

  • 606

end page

  • 614

volume

  • 86

number

  • 7