rs118204073
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.010 |
GeneticVariation
|
BEFREE |
A proband with chylomicronemia, pancreatitis, and non-insulin-dependent diabetes (NIDDM) bears two different mutations in exon 3 of the lipoprotein lipase (LPL) gene: a missense mutation, 75Arg-->Ser, inherited through the paternal line and a truncation, 73Tyr-->Ter, through the maternal line.
|
8325986 |
1993 |
rs1801278
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|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.100 |
GeneticVariation
|
BEFREE |
We studied a simple tandem repeat DNA polymorphism in the glycogen synthase gene and polymorphisms at codon 513 (Ala-->Pro) and 972 (Gly-->Arg) in the insulin receptor substrate-1 (IRS-1) gene in 197 non-insulin-dependent diabetes mellitus (NIDDM) and 178 control subjects in Japan.
|
8037748 |
1994 |
rs1801276
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Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.060 |
GeneticVariation
|
BEFREE |
We studied a simple tandem repeat DNA polymorphism in the glycogen synthase gene and polymorphisms at codon 513 (Ala-->Pro) and 972 (Gly-->Arg) in the insulin receptor substrate-1 (IRS-1) gene in 197 non-insulin-dependent diabetes mellitus (NIDDM) and 178 control subjects in Japan.
|
8037748 |
1994 |
rs4994
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Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.100 |
GeneticVariation
|
BEFREE |
Pima subjects homozygous for the Trp64Arg beta 3-adrenergic-receptor mutation have an earlier onset of NIDDM and tend to have a lower resting metabolic rate.
|
7609750 |
1995 |
rs4994
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.100 |
GeneticVariation
|
BEFREE |
The Trp64Arg allele of the beta 3-adrenergic receptor is associated with abdominal obesity and resistance to insulin and may contribute to the early onset of NIDDM:
|
7609751 |
1995 |
rs1801483
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.100 |
GeneticVariation
|
BEFREE |
None of the Japanese diabetic patients showed Gly40Ser mutation and the association of this mutation with NIDDM was significantly different (p < 4.10(-5) vs French, p < 3.10(-6) vs Sardinian by Fisher's exact test).
|
7589886 |
1995 |
rs1801483
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.100 |
GeneticVariation
|
BEFREE |
Taken together, the data do not support the suggested involvement of the Gly40Ser polymorphism in impaired glucose tolerance and the hypothesis of an association between NIDDM and the glucagon receptor gene in this population.
|
8690179 |
1995 |
rs1801278
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.100 |
GeneticVariation
|
BEFREE |
The purpose of this study was to examine the role of the IRS-1 missense mutations at codons 972 (glycine to arginine) and 513 (alanine to proline) in two diverse populations from South India and Finland at high risk for NIDDM.
|
7796990 |
1995 |
rs1801278
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.100 |
GeneticVariation
|
BEFREE |
Two SSCP variants that change the sequence of the protein, delta S686/687 (deletion of the codons for serine-686 and 687) and G972R, were identified in two different NIDDM subjects, both whom were also heterozygous for the V101I polymorphisms in GLUT2.
|
7713316 |
1995 |
rs1801278
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our results suggest that the Gly9</span>72Arg polymorphism does not play an important role in the pathogenesis of NIDDM in Japanese patients.
|
7673430 |
1995 |
rs1801276
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.060 |
GeneticVariation
|
BEFREE |
The purpose of this study was to examine the role of the IRS-1 missense mutations at codons 972 (glycine to arginine) and 513 (alanine to proline) in two diverse populations from South India and Finland at high risk for NIDDM.
|
7796990 |
1995 |
rs2229621
|
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Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.020 |
GeneticVariation
|
BEFREE |
Analysis of the hexokinase II gene in subjects with insulin resistance and NIDDM and detection of a Gln142-->His substitution.
|
7883122 |
1995 |
rs662
|
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Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.100 |
GeneticVariation
|
BEFREE |
It has been hypothesized an A/B (Gln 192-->Arg) polymorphism of PON may be involved in the pathogenesis of CHD, especially among subjects with non-insulin-dependent diabetes mellitus (NIDDM).
|
8960946 |
1996 |
rs4994
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.100 |
GeneticVariation
|
BEFREE |
In conclusion, the TRP64ARG beta 3AR mutation or any other mutation in the beta 3AR gene is not a major contributor to genetic susceptibility to NIDDM and obesity likely in Nauruans.
|
8923875 |
1996 |
rs4994
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.100 |
GeneticVariation
|
BEFREE |
Recently, a missense mutation replacing tryptophan with arginine at codon 64 of the beta 3-adrenergic receptor gene was shown to be associated with insulin resistance in nondiabetic subjects and to an earlier onset of NIDDM in Pima Indians.
|
8690160 |
1996 |
rs4994
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.100 |
GeneticVariation
|
BEFREE |
These data suggest that the Trp64Arg mutation not only contributes to weight gain and age-at-onset of NIDDM but is also associated with susceptibility to NIDDM.
|
8721782 |
1996 |
rs1801483
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.100 |
GeneticVariation
|
BEFREE |
Restricted geographical extension of the association of a glucagon receptor gene mutation (Gly40Ser) with non-insulin-dependent diabetes mellitus.
|
8858207 |
1996 |
rs1801483
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.100 |
GeneticVariation
|
BEFREE |
Absence of association between the Gly40-->Ser mutation in the human glucagon receptor and Japanese patients with non-insulin-dependent diabetes mellitus or impaired glucose tolerance.
|
8931690 |
1996 |
rs1801483
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.100 |
GeneticVariation
|
BEFREE |
We have previously reported that a single heterozygous missense mutation in exon 2 of the glucagon receptor gene, which changes a glycine to a serine (Gly40Ser), is associated with NIDDM in a French population.
|
8635644 |
1996 |
rs1801483
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.100 |
GeneticVariation
|
BEFREE |
Recently, subtypes of typical NIDDM were suggested based on missense mutations of mitochondrial DNA [tRNALeu(UUR)] and the glucagon receptor gene (Gly40Ser).
|
8732719 |
1996 |
rs1801483
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.100 |
GeneticVariation
|
BEFREE |
Thus, the Gly40-Ser mutation does not play an important role in the pathogenesis of NIDDM in Japanese patients.
|
8879960 |
1996 |
rs1801278
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.100 |
GeneticVariation
|
BEFREE |
Gly971Arg of IRS-1 gene does not play an important role in the development of NIDDM in this population.
|
8732707 |
1996 |
rs1801278
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.100 |
GeneticVariation
|
BEFREE |
Two mutations of the IRS-1 gene (Gly(972)Arg and Ala(513)Pro) have been described, although their roles in the development of insulin resistance and non-insulin-dependent diabetes mellitus (NIDDM) remain controversial.
|
9162610 |
1996 |
rs1801278
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.100 |
GeneticVariation
|
BEFREE |
Five variant sequences of IRS-1 were identified with the NIDDM subjects; 2 silent polymorphisms at codons 235 (GGG to GGA) and 893 (CCG to CCC): 2 non-conservative mutations (Ala513Pro; Gly972Arg) and a codon deletion (Ser681-7 to Ser681-6).
|
8641117 |
1996 |
rs1801276
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.060 |
GeneticVariation
|
BEFREE |
Five variant sequences of IRS-1 were identified with the NIDDM subjects; 2 silent polymorphisms at codons 235 (GGG to GGA) and 893 (CCG to CCC): 2 non-conservative mutations (Ala513Pro; Gly972Arg) and a codon deletion (Ser681-7 to Ser681-6).
|
8641117 |
1996 |