Clinical trial NCT00339885: Mapping Genes for Type 2 (Non-Insulin Dependent) Diabetes Mellitus
Official title: Mapping Genes for Type 2 (Non-Insulin Dependent) Diabetes Mellitus
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Genetic Variation
Diabetes
Keywords: Monogenic Diabetes
Type 2 Diabetes Mellitus
QTL
Lead sponsor: National Institutes of Health Clinical Center (CC)
Sponsor class: NIH
First posted: 2006-06-21
Enrollment: 32379
Sex: ALL
Minimum age (years): 1
Maximum age (years): 65
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: A large majority of the sample population resides in various parts of Finland and are of Finnish descent. The Finnish population provides an ideal basis for studies of complex genetic diseases such as T2D due to its relative genetic and environmental homogeneity, excellent data sources, and a population strongly supportive of biomedical research. Individuals with or without diabetes (type2 or monogenic forms of diabetes) have been collected.

Brief summary: The aim of the project is to positionally clone susceptibility genes for NIDDM. Patients will be ascertained in Finland from previous health surveys and hospital discharge records. Approximately 400 affected sib pairs will be collected. Families will be chosen who have, at most, one parent with NIDDM no history of IDDM. A clinical examination will be undertaken on family members and blood drawn for DNA isolation. Covariates such as body weight, blood pressure, lipid levels and urinary albumin will also be measured. The unaffected spouse and children of a subset of probands will be invited to undergo a frequently-sampled intravenous glucose tolerance test (FSIGT) to measure parameters of pancreatic function and peripheral insulin resistance (IR). A number of unrelated elderly non-diabetic subjects will also be identified to conduct a population-based association analysis.

The FSIGT analysis will be performed in Los Angeles. The DNA will be shipped to Bethesda where a total genomic scan will be performed using semi-automated fluorescence-based genotyping technology. Data from Bethesda, Los Angeles and Finland will be sent to Ann Arbor where parametric and non-parametric methods will be used to analyse both discrete traits such as NIDDM and intermediate traits like IR....

Detailed description: The Finland-United States investigation of NIDDM (FUSION) study is a long-term effort to

identify susceptibility genes for Type 2 diabetes (T2D) and associated quantitative traits. This

involves the phenotyping and DNA analysis of thousands of individuals living in Finland, utilizing a study design that was originally based on affected sib pairs. The majority of these samples have already been subjected to a genome scan using microsatellite markers and the original FUSION samples. Additionally, thousands of other northern European cases and controls have been subjected to genome-wide association (GWA) analysis and/or fine mapping as part of the FUSION study. More recently, the opportunity provided by the lowered sequencing costs have allowed targeted and/or whole genome sequencing of many of these individuals.

Eligibility criteria: * No eligibility criteria listed.

Primary outcomes:
measure: T2D status, quantitative traits measurements
timeFrame: ongoing
Secondary outcomes:
Other outcomes:
Locations:
city: Helsinki
country: Finland
facility: Natl Inst for Health &amp; Welfare (THL)
city: Kuopio
country: Finland
facility: Research Ethics Committee of Hospital District of Northern Savo
city: Tromso
country: Norway
facility: University of Tromso
city: Trondheim
country: Norway
facility: Norwegian U of Science &amp; Technology
Study officials:
affiliation: National Human Genome Research Institute (NHGRI)
name: Lori Bonnycastle, Ph.D.
role: PRINCIPAL_INVESTIGATOR
References: