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Study Description

The Finland-United States Investigation of NIDDM Genetics (FUSION) study is a long-term effort to identify genetic variants that predispose to type 2 diabetes (T2D) or that impact the variability of T2D-related quantitative traits. The initial effort involved linkage analysis of affected-sibling-pair (ASP) families based on over 5,000 individuals living in Finland, and association fine mapping based on these family members and additional T2D cases and controls. Recently we completed a genome-wide association scan on 1161 T2D cases and 1174 normal glucose tolerant (NGT) controls. Individual-level data is available here for the 919 T2D cases and 787 NGT controls who reconsented to the use of their data or are deceased.

Version 3 added individual-level data for additional phenotypic variables.

Version 4 turns phs000100 into a substudy of phs000867.

Authorized Access
Publicly Available Data
  Link to other NCBI resources related to this study
Study Inclusion/Exclusion Criteria
Sample inclusion criteria and exclusion criteria

Cases: 644 FUSION and 275 Finrisk 2002 T2D cases as defined by WHO 1999 criteria of fasting plasma glucose ≥ 7.0 mmol/l or 2-h plasma glucose ≥ 11.1 mmol/l, by report of diabetes medication use, or based on medical record review. FUSION cases with known or probable type 1 diabetes among their first degree relatives were excluded. The 644 FUSION cases each reported at least one T2D sibling; the 275 Finrisk 2002 cases came from a Finnish population-based risk factor survey.

Controls: 331 FUSION and 456 Finrisk 2002 NGT controls as defined by WHO 1999 criteria of fasting glucose < 6.1 mmol/l and 2-h glucose < 7.8 mmol/l. FUSION controls include 119 subjects from Vantaa, Finland, who were NGT at ages 65 and 70 years, and 212 NGT spouses of FUSION subjects. The controls were approximately frequency matched to the cases by age, sex, and birth province.

Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Whole Genome Genotyping Illumina HumanHap300v1.1 317503 33879
Study History

  • Oct 1994 - Apr 1996: FUSION 1 ASP family primary data collection
  • Dec 1996 - Aug 1998: FUSION 2 ASP primary data collection and collection of additional FUSION 1 family members
  • 2000: FUSION 1 linkage genome scan papers published
  • 2004: FUSION 2 linkage genome scan paper published
  • 2004 - 2006: sampling of additional FUSION 1 and 2 family members and unrelated T2D cases and NGT controls from Finrisk 2002 and other studies
  • 2006: Genome-wide association scan genotyping completed
  • 2007: T2D genome-wide association scan paper published in Science
  • Selected Publications
    Diseases/Traits Related to Study (MeSH terms)
    Authorized Data Access Requests
    See articles in PMC citing this study accession
    Study Attribution
    • Principal Investigators
      • Michael Boehnke. University of Michigan, Ann Arbor, MI, USA.
      • Francis Collins. NHGRI, NIH, Bethesda, MD, USA.
      • Richard Bergman. University of Southern California, Los Angeles, CA, USA.
      • Jaakko Tuomilehto. National Public Health Institute, Helsinki, Finland.
      • Karen Mohlke. University of North Carolina, Chapel Hill, NC, USA.
    • Co-Investigators
      • Laura Scott. University of Michigan, Ann Arbor, MI, USA.
      • Lori Bonnycastle. NHGRI, NIH, Bethesda, MD, USA.
      • Timo Valle. National Public Health Institute, Helsinki, Finland.
      • Heather Stringham. University of Michigan, Ann Arbor, MI, USA.
      • Anne Jackson. University of Michigan, Ann Arbor, MI, USA.
      • Tom Buchanan. University of Southern California, Los Angeles, CA, USA.
      • Richard Watanabe. University of Southern California, Los Angeles, CA, USA.
      • Peter Chines. NHGRI, NIH, Bethesda, MD, USA.
      • Mike Erdos. NHGRI, NIH, Bethesda, MD, USA.
      • Cristen Willer. University of Michigan, Ann Arbor, MI, USA.
      • Gonçalo Abecasis. University of Michigan, Ann Arbor, MI, USA.
    • Genotyping Center
      • Johns Hopkins University Center for Inherited Disease Research (CIDR), Baltimore, MD, USA.
    • Funding Source for Genotyping
      • HHSN268200782096C. NIH contract "High throughput genotyping for studying the genetic contributions to human disease". National Institutes of Health, Bethesda, MD, USA.