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Results: 101 to 103 of 103

Publication Record


A second-generation screen of the human genome for susceptibility to insulin-dependent diabetes mellitus.
Concannon P, Gogolin-Ewens KJ, Hinds DA, Wapelhorst B, Morrison VA, Stirling B, Mitra M, Farmer J, Williams SR, Cox NJ, Bell GI, Risch N, Spielman RS
(1998) Nat Genet 19: 292-6
MeSH Terms: Chromosome Mapping, Diabetes Mellitus, Type 1, Genetic Linkage, Genetic Markers, Genetic Predisposition to Disease, Genetic Testing, Genome, Human, Humans
Show Abstract · Added February 22, 2016
During the past decade, the genetics of type 1 (insulin-dependent) diabetes mellitus (IDDM) has been studied extensively and the disorder has become a paradigm for genetically complex diseases. Previous genome screens and studies focused on candidate genes have provided evidence for genetic linkage between polymorphic DNA markers and 15 putative IDDM susceptibility loci, designated IDDM1-IDDM15. We have carried out a second-generation screen of the genome for linkage and analysed the data by multipoint linkage methods. An initial panel of 212 affected sibpairs (ASPs) was genotyped for 438 markers spanning all autosomes, and an additional 467 ASPs were used for follow-up genotyping. Other than the well-established linkage with the HLA region at chromosome 6p21.3, there was only one region, located on chromosome 1q and not previously reported, where the log likelihood ratio (lod) was greater than 3. Lods between 1.0 and 1.8 were found in six other regions, three of which have been reported in other studies. Another reported region, on chromosome 6q and loosely linked to HLA, also had an elevated lod. Little or no support was found for most reported IDDM loci (lods were less than 1), despite larger sample sizes in the present study.
0 Communities
1 Members
0 Resources
8 MeSH Terms
Sequential sib-pair and association studies to detect genes in quantitative traits.
Savage A, Sun F, Crawford DC, Ashley AE, Yang Q, Sherman SL
(1997) Genet Epidemiol 14: 885-90
MeSH Terms: Analysis of Variance, Female, Genetic Linkage, Genetic Testing, Humans, Male, Matched-Pair Analysis, Nuclear Family, Predictive Value of Tests, Quantitative Trait, Heritable, Software
Show Abstract · Added December 10, 2013
We applied sib-pair and association methods to a GAW data set of nuclear families with quantitative traits. Our approaches included 1) preliminary statistical studies including correlations and linear regressions, 2) sib-pair methods, and 3) association studies. We used a single data set to screen for linkage and association and, subsequently, additional data sets to confirm the preliminary results. Using this sequential approach, sib-pair analysis provided evidence for the genes influencing Q1, Q2, and Q4. We correctly predicted MG1 for Q1, MG2 for Q2, and MG4 for Q4. We did not find any false positives using this approach. Association studies identified chromosomes 8 and 9 to be associated with Q4; however these are assumed to be false positives as no associations were modeled into the data.
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1 Members
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11 MeSH Terms
Polymorphisms of GLUT2 and GLUT4 genes. Use in evaluation of genetic susceptibility to NIDDM in blacks.
Matsutani A, Koranyi L, Cox N, Permutt MA
(1990) Diabetes 39: 1534-42
MeSH Terms: African Continental Ancestry Group, Alleles, Autoradiography, Chromosome Mapping, Cloning, Molecular, DNA, DNA Probes, Diabetes Mellitus, Type 2, Disease Susceptibility, Evaluation Studies as Topic, Gene Frequency, Genetic Linkage, Genetic Testing, Haplotypes, Humans, Liver, Middle Aged, Monosaccharide Transport Proteins, Mutation, Polymorphism, Genetic, Polymorphism, Restriction Fragment Length, Risk Factors
Show Abstract · Added February 22, 2016
The liver/islet (GLUT2) and muscle/adipose tissue (GLUT4) glucose-transporter gene products, membrane proteins that facilitate glucose uptake into cells, are important molecules for normal carbohydrate metabolism. Recent isolation of the genes encoding these proteins provides a means to assess the role of possible defects that might contribute to impaired glucose-stimulated insulin secretion or impaired insulin-mediated glucose uptake, both prominent phenotypic features of non-insulin-dependent diabetes (NIDDM). A GLUT2 cDNA clone was isolated from a human liver cDNA library to search for polymorphisms at this locus in American Blacks. Three highly polymorphic sites were identified, one of which (EcoRI-Hae III) appears to be due to an insertion and/or deletion of 200 base pairs of DNA. Significant linkage disequilibrium between these sites over approximately 30 kilobases of genomic DNA suggested that these polymorphisms could be in linkage disequilibrium with mutations at this locus if they exist. A GLUT4 cDNA clone was also utilized to search for polymorphisms at this locus, but only one previously described polymorphism was observed. GLUT2 and GLUT4 cDNA probes were used to evaluate DNA polymorphisms in genomic DNA from American Blacks with NIDDM. The allelic, genotypic, and haplotypic frequencies of the DNA polymorphisms at these loci did not differ from the frequencies in nondiabetic subjects. Because no associations with NIDDM were found, it appears unlikely that mutations at these loci contribute in a major way to the genetic susceptibility to NIDDM observed in American Blacks.
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1 Members
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22 MeSH Terms