A susceptibility locus for early-onset non-insulin dependent (type 2) diabetes mellitus maps to chromosome 20q, proximal to the phosphoenolpyruvate carboxykinase gene

Details

Serval ID
serval:BIB_E4AB88C5DD0A
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
A susceptibility locus for early-onset non-insulin dependent (type 2) diabetes mellitus maps to chromosome 20q, proximal to the phosphoenolpyruvate carboxykinase gene
Journal
Human Molecular Genetics
Author(s)
Zouali  H., Hani  E. H., Philippi  A., Vionnet  N., Beckmann  J. S., Demenais  F., Froguel  P.
ISSN
0964-6906 (Print)
Publication state
Published
Issued date
09/1997
Volume
6
Number
9
Pages
1401-8
Notes
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S. --- Old month value: Sep
Abstract
Several candidate genes for non-insulin-dependent diabetes mellitus (NIDDM) map on chromosome 20, including the phosphoenolpyruvate carboxykinase gene (PCK1) and one of the maturity onset diabetes of the young genes (MODY1). Thus, we have investigated the entire long arm of chromosome 20. Linkage analyses were conducted in a total sample of 148 NIDDM families (301 NIDDM sib pairs) and in a subset of 42 early onset NIDDM families, where genetic components are likely to play a more important role (55 NIDDM sib pairs diagnosed at or before 45 years of age), using 10 highly polymorphic markers with an average map density of 7.5 cM. Using affected sib pair methods (two-point linkage and multipoint linkage analyses), significant results were obtained with the 20q13 region, in the vicinity of the PCK1 locus, only in the subset of 55 early onset NIDDM sib pairs (multipoint MLS = 2.74, P = 0.0004; MLS = 2.34, P = 0.0009 when using a conservative weighting procedure). Moreover, another region spanning the ribophorin II (RPNII, phospholipase C (PLC1) and adenosine deaminase (ADA) loci suggested linkage with NIDDM (multipoint MLS of 1.81 in all NIDDM sib pairs, P = 0.003; MLS = 1.31, P = 0.012 when using a conservative weighting procedure). Whereas our study suggests the location of a susceptibility locus for early onset NIDDM in the PCK1 gene region, further investigation in larger data sets is required to confirm these results and assess the role of other regions on chromosome 20q in human NIDDM.
Keywords
Adenosine Deaminase/genetics Adult Age of Onset *Chromosome Mapping Chromosomes, Human, Pair 20/*genetics Diabetes Mellitus, Type 2/*genetics Female Genetic Markers Humans Male Membrane Proteins/genetics Middle Aged Phosphoenolpyruvate Carboxykinase (GTP)/genetics Phospholipase C/genetics Polymorphism, Single-Stranded Conformational
Pubmed
Web of science
Open Access
Yes
Create date
25/01/2008 16:19
Last modification date
20/08/2019 16:08
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