Genetic Epidemiology, Psychiatric Genetics, Asthma Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
9792550
TITLE
Novel susceptibility gene for late-onset NIDDM is localized to human chromosome 12q.
ABSTRACT
NIDDM has a substantial genetic component, but the nature of the genetic susceptibility is largely unknown. Maturity-onset diabetes of the young (MODY) is a genetically heterogeneous monogenic form of NIDDM characterized by an early age of onset and autosomal dominant inheritance, and linkage studies have identified genes that are mutated in different MODY pedigrees on chromosome 20 (MODY1 locus, hepatocyte nuclear factor-4alpha [HNF-4alpha] gene), chromosome 7 (MODY2 locus, glucokinase gene), and chromosome 12 (MODY3 locus, HNF-1alpha gene). We studied an extended pedigree in which multiple members are affected by late-onset NIDDM associated with insulin resistance and performed linkage analysis with four microsatellite markers in the MODY3 region of chromosome 12q. We found significant evidence for linkage between NIDDM and the MODY3 locus (logarithm of odds score 3.65 at theta = 0.008 telomeric to marker D12S321), but sequencing of the 10 exons and promoter of HNF-1alpha did not identify any causative mutation in this gene. Our results indicate that the region of chromosome 12q close to MODY3 harbors a novel susceptibility gene or genes for NIDDM.
DATE PUBLISHED
1998 Nov
HISTORY
PUBSTATUS PUBSTATUSDATE
pubmed 1998/10/29
medline 1998/10/29 00:01
entrez 1998/10/29 00:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Shaw JT Shaw J T JT Department of Diabetes and Endocrinology, Princess Alexandra Hospital, Brisbane, Queensland, Australia.
Lovelock PK Lovelock P K PK
Kesting JB Kesting J B JB
Cardinal J Cardinal J J
Duffy D Duffy D D
Wainwright B Wainwright B B
Cameron DP Cameron D P DP
INVESTIGATORS
JOURNAL
VOLUME: 47
ISSUE: 11
TITLE: Diabetes
ISOABBREVIATION: Diabetes
YEAR: 1998
MONTH: Nov
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Print
ISSN: 0012-1797
ISSNTYPE: Print
MEDLINE JOURNAL
MEDLINETA: Diabetes
COUNTRY: United States
ISSNLINKING: 0012-1797
NLMUNIQUEID: 0372763
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, Non-U.S. Gov't
COMMENTS AND CORRECTIONS
GRANTS
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Adult
Aged
Chromosomes, Human, Pair 12
DNA-Binding Proteins
Diabetes Mellitus, Type 2 genetics
Exons genetics
Female genetics
Genetic Predisposition to Disease genetics
Haplotypes genetics
Hepatocyte Nuclear Factor 1 genetics
Hepatocyte Nuclear Factor 1-alpha genetics
Hepatocyte Nuclear Factor 1-beta genetics
Humans genetics
Insulin Resistance genetics
Lod Score genetics
Male genetics
Microsatellite Repeats genetics
Middle Aged genetics
Nuclear Proteins genetics
Pedigree genetics
Promoter Regions, Genetic genetics
Transcription Factors genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 DNA-Binding Proteins
0 HNF1A protein, human
0 HNF1B protein, human
0 Hepatocyte Nuclear Factor 1-alpha
0 Nuclear Proteins
0 Transcription Factors
126548-29-6 Hepatocyte Nuclear Factor 1
138674-15-4 Hepatocyte Nuclear Factor 1-beta
OTHER ID's