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rs104893642
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|
C |
0.710 |
CausalMutation |
CLINVAR |
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rs1259467443
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T |
0.700 |
CausalMutation |
CLINVAR |
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rs1801278
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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.
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8037748 |
1994 |
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rs1801276
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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.
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8037748 |
1994 |
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rs1801278
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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.
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7673430 |
1995 |
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rs1801278
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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.
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7713316 |
1995 |
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rs1801278
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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.
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7796990 |
1995 |
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rs1801276
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|
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.
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7796990 |
1995 |
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rs1801278
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|
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).
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8641117 |
1996 |
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rs1801278
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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.
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9162610 |
1996 |
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rs1801278
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0.100 |
GeneticVariation |
BEFREE |
Gly971Arg of IRS-1 gene does not play an important role in the development of NIDDM in this population.
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8732707 |
1996 |
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rs1801276
|
|
|
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 |
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rs1801276
|
|
|
0.060 |
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 |
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rs1801118
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0.010 |
GeneticVariation |
BEFREE |
Although the prevalence of each of these polymorphisms was not statistically different between NIDDM and control subjects, the prevalence of the four IRS-1 polymorphisms with an amino acid substitution together was significantly higher in NIDDM than in control subjects (23.4 vs 8.5%, p < 0.05), and two substitutions (Met 209 --> Thr and Ser809 --> Phe) were found only in NIDDM patients.
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8739921 |
1996 |
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rs1801120
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0.010 |
GeneticVariation |
BEFREE |
Although the prevalence of each of these polymorphisms was not statistically different between NIDDM and control subjects, the prevalence of the four IRS-1 polymorphisms with an amino acid substitution together was significantly higher in NIDDM than in control subjects (23.4 vs 8.5%, p < 0.05), and two substitutions (Met 209 --> Thr and Ser809 --> Phe) were found only in NIDDM patients.
|
8739921 |
1996 |
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rs1801278
|
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|
0.100 |
GeneticVariation |
BEFREE |
To assess the relevance of a Gly-->Arg substitution in codon 972 of the insulin receptor substrate-1 gene in impaired glucose tolerance (IGT) and NIDDM.
|
9589236 |
1998 |
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rs1801278
|
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|
0.100 |
GeneticVariation |
BEFREE |
Amino acid polymorphism Gly 972 Arg in IRS-1 is not associated to lower clamp-derived insulin sensitivity in young healthy first degree relatives of patients with type 2 diabetes.
|
10482045 |
1999 |
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rs1801278
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0.100 |
GeneticVariation |
BEFREE |
Among 130 patients with type-2 diabetes mellitus (DM), we identified 6 who were heterozygous for the Gly972Arg mutation.
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10844412 |
1999 |
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rs1801278
|
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|
0.100 |
GeneticVariation |
BEFREE |
Gly971Arg, is more common in Mexican Americans and Caucasians, but is not a major contributor to genetic susceptibility to Type 2 diabetes.
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11025561 |
2000 |
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rs1801278
|
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|
0.100 |
GeneticVariation |
BEFREE |
Several polymorphisms in the IRS genes have been identified, but only the Gly-->Arg972 substitution of IRS-1, interacting with environmental factors, seems to have a pathogenic role in the development of type 2 diabetes.
|
11641236 |
2001 |
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rs1801278
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0.100 |
GeneticVariation |
BEFREE |
These alterations may account for the increased predisposition to type 2 diabetes in individuals carrying the Gly(972)-->Arg amino acid polymorphism of IRS-1.
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11978638 |
2002 |
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rs1801278
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|
0.100 |
GeneticVariation |
BEFREE |
Polymorphisms in the genes encoding the insulin receptor substrate (IRS) proteins, IRS-1 (Gly(972)Arg) and IRS-2 (Gly(1057)Asp), influence susceptibility to type 2 diabetes.
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12213887 |
2002 |
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rs104893642
|
|
|
0.710 |
GeneticVariation |
BEFREE |
A novel T608R missense mutation in insulin receptor substrate-1 identified in a subject with type 2 diabetes impairs metabolic insulin signaling.
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12679424 |
2003 |
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rs1801278
|
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|
0.100 |
GeneticVariation |
BEFREE |
Also, the diagnostic test to exclude diabetes amongst control subjects interacted with the association between the IRS-1 Gly972Arg variant and Type 2 diabetes (p=0.03).
|
12819898 |
2003 |
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rs1801278
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The Gly972Arg mutation in the IRS-1 gene has been found to be associated with insulin resistance and type II diabetes.
|
12588284 |
2003 |