|
rs689
|
INS;INS-IGF2
|
Adenocarcinoma of the gastroesophageal junction
|
|
0.010 |
GeneticVariation |
BEFREE |
Our findings highlight that TCF7L2 rs290481, INS rs689, and INSR rs1799817 polymorphisms may increase the risk of AEG.
|
31211453 |
2019 |
|
rs80356664
|
INS;INS-IGF2
|
Autoimmune Diseases
|
|
0.010 |
GeneticVariation |
BEFREE |
At least 2 of the 23 patients with no detectable autoimmunity (8%) carried heterozygous pathogenic variants: one previously reported missense variant in the INS gene (p.Gly32Ser) and one novel frameshift variant (p.Val264fs) in the HNF1A gene.
|
31365591 |
2019 |
|
rs121908260
|
INS;INS-IGF2
|
insulinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
The clinical study was combined with in vitro studies of the synthesis and secretion of p.R46Q-insulin in rat INS-1 insulinoma cells.
|
28478482 |
2017 |
|
rs80356664
|
INS;INS-IGF2
|
Diabetes Mellitus
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified one missense mutation (G32S) in the INS gene and two mutations (R131Q and R203S) in the HNF1α gene that could be associated with diabetes.
|
27398945 |
2016 |
|
rs80356664
|
INS;INS-IGF2
|
Diabetes
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified one missense mutation (G32S) in the INS gene and two mutations (R131Q and R203S) in the HNF1α gene that could be associated with diabetes.
|
27398945 |
2016 |
|
rs3842748
|
INS;INS-IGF2
|
Obesity
|
|
0.010 |
GeneticVariation |
BEFREE |
Statistical analysis allowed observation of the association of the SNP rs3842748, through its GC genotype, with obesity in PCOS (P = 0.049; OR CI95% 1,59 [1.00-2.51]) and in classical PCOS (YPCOS) (P = 0.010), as well as the correlation of the SNP rs689 and the pair of haplotypes h1/h1 with higher levels of testosteronaemia in the PCOS group, although this was at the limit of significance (P = 0.054) CONCLUSION: These results are in accordance with some studies in literature and highlight the role of insulin gene VNTR in complex metabolic disorders.
|
26136127 |
2015 |
|
rs3842748
|
INS;INS-IGF2
|
Polycystic Ovary Syndrome
|
|
0.010 |
GeneticVariation |
BEFREE |
Statistical analysis allowed observation of the association of the SNP rs3842748, through its GC genotype, with obesity in PCOS (P = 0.049; OR CI95% 1,59 [1.00-2.51]) and in classical PCOS (YPCOS) (P = 0.010), as well as the correlation of the SNP rs689 and the pair of haplotypes h1/h1 with higher levels of testosteronaemia in the PCOS group, although this was at the limit of significance (P = 0.054) CONCLUSION: These results are in accordance with some studies in literature and highlight the role of insulin gene VNTR in complex metabolic disorders.
|
26136127 |
2015 |
|
rs3842753
|
INS;INS-IGF2
|
Diabetes Mellitus, Insulin-Dependent
|
|
0.010 |
GeneticVariation |
BEFREE |
In this work we show that the analysis of non-HLA related to type 1 diabetes in the INS-VNTR, SNP rs689, and rs3842753 improves the identification of these patients.
|
26273670 |
2015 |
|
rs689
|
INS;INS-IGF2
|
Obesity
|
|
0.010 |
GeneticVariation |
BEFREE |
Statistical analysis allowed observation of the association of the SNP rs3842748, through its GC genotype, with obesity in PCOS (P = 0.049; OR CI95% 1,59 [1.00-2.51]) and in classical PCOS (YPCOS) (P = 0.010), as well as the correlation of the SNP rs689 and the pair of haplotypes h1/h1 with higher levels of testosteronaemia in the PCOS group, although this was at the limit of significance (P = 0.054) CONCLUSION: These results are in accordance with some studies in literature and highlight the role of insulin gene VNTR in complex metabolic disorders.
|
26136127 |
2015 |
|
rs689
|
INS;INS-IGF2
|
Polycystic Ovary Syndrome
|
|
0.010 |
GeneticVariation |
BEFREE |
Statistical analysis allowed observation of the association of the SNP rs3842748, through its GC genotype, with obesity in PCOS (P = 0.049; OR CI95% 1,59 [1.00-2.51]) and in classical PCOS (YPCOS) (P = 0.010), as well as the correlation of the SNP rs689 and the pair of haplotypes h1/h1 with higher levels of testosteronaemia in the PCOS group, although this was at the limit of significance (P = 0.054) CONCLUSION: These results are in accordance with some studies in literature and highlight the role of insulin gene VNTR in complex metabolic disorders.
|
26136127 |
2015 |
|
rs80356663
|
INS;INS-IGF2
|
Lesion of brain
|
|
0.010 |
GeneticVariation |
BEFREE |
In this report we present a family with permanent neonatal diabetes, heterozygous for a novel INS gene missense mutation, p.A24V, manifested with marked hyperglycemia and ketoacidosis, unstable glycemic control, requiring insulin therapy, rapid progression of long-term complications and accompanying physical pathological signs and brain lesions.
|
25765664 |
2015 |
|
rs121908260
|
INS;INS-IGF2
|
Monogenic diabetes
|
|
0.010 |
GeneticVariation |
BEFREE |
The insulin gene mutation c.137G>A (R46Q), which changes an arginine at the B22 position of the mature hormone to glutamine, causes the monogenic diabetes variant maturity-onset diabetes of the young (MODY).
|
25423173 |
2014 |
|
rs121908260
|
INS;INS-IGF2
|
Maturity onset diabetes mellitus in young
|
|
0.010 |
GeneticVariation |
BEFREE |
The insulin gene mutation c.137G>A (R46Q), which changes an arginine at the B22 position of the mature hormone to glutamine, causes the monogenic diabetes variant maturity-onset diabetes of the young (MODY).
|
25423173 |
2014 |
|
rs80356672
|
INS;INS-IGF2
|
Neonatal diabetes mellitus
|
|
0.010 |
GeneticVariation |
BEFREE |
Permanent neonatal diabetes in siblings with novel C109Y INS mutation transmitted by an unaffected parent with somatic mosaicism.
|
24279684 |
2014 |
|
rs121908274
|
INS;INS-IGF2
|
Hyperproinsulinemia
|
|
0.010 |
GeneticVariation |
BEFREE |
These mutant proinsulin proteins accumulate in the endoplasmic reticulum (ER) and are poorly secreted except for G84R and in contrast to wild-type and hyperproinsulinemia-associated mutant proteins (H34D and R89H) which were sorted to secretory granules and efficiently secreted.
|
20034470 |
2010 |
|
rs689
|
INS;INS-IGF2
|
Autoimmune thyroid disease (AITD)
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 rs3087243, ERBB3 rs2292399, and CLEC16A rs2903692, but not INS rs689, were significant risk factors for the cooccurrence of AITD in Japanese T1D.
|
18940880 |
2009 |
|
rs121908261
|
INS;INS-IGF2
|
Diabetes
|
|
0.010 |
GeneticVariation |
BEFREE |
In type 1 diabetic patients, we found the INS mutation c.163C>T (R55C) in a girl who at 10 years of age presented with ketoacidosis and insulin-dependent, GAD, and insulinoma-associated antigen-2 (IA-2) antibody-negative diabetes.
|
18192540 |
2008 |
|
rs121908261
|
INS;INS-IGF2
|
Diabetes Mellitus, Insulin-Dependent
|
|
0.010 |
GeneticVariation |
BEFREE |
Her mother had a de novo R55C mutation and was diagnosed with ketoacidosis and insulin-dependent diabetes at 13 years of age.Both had residual beta-cell function.
|
18192540 |
2008 |
|
rs121908261
|
INS;INS-IGF2
|
Ketosis
|
|
0.010 |
GeneticVariation |
BEFREE |
Her mother had a de novo R55C mutation and was diagnosed with k</span>etoacidosis</span> and insulin-dependent diabetes at 13 years of age.Both had residual beta-cell function.
|
18192540 |
2008 |
|
rs121908261
|
INS;INS-IGF2
|
Diabetes Mellitus
|
|
0.010 |
GeneticVariation |
BEFREE |
In type 1 diabetic patients, we found the INS mutation c.163C>T (R55C) in a girl who at 10 years of age presented with ketoacidosis and insulin-dependent, GAD, and insulinoma-associated antigen-2 (IA-2) antibody-negative diabetes.
|
18192540 |
2008 |
|
rs121908279
|
INS;INS-IGF2
|
Diabetes Mellitus
|
|
0.010 |
GeneticVariation |
BEFREE |
A heterozygous R6C mutation cosegregated with diabetes in a MODY family and is probably pathogenic, but the L68M substitution identified in a patient with young-onset type 2 diabetes may be a rare nonfunctional variant.
|
18162506 |
2008 |
|
rs121908279
|
INS;INS-IGF2
|
Diabetes
|
|
0.010 |
GeneticVariation |
BEFREE |
A heterozygous R6C mutation cosegregated with diabetes in a MODY family and is probably pathogenic, but the L68M substitution identified in a patient with young-onset type 2 diabetes may be a rare nonfunctional variant.
|
18162506 |
2008 |
|
rs121908279
|
INS;INS-IGF2
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.010 |
GeneticVariation |
BEFREE |
A heterozygous R6C mutation cosegregated with diabetes in a MODY family and is probably pathogenic, but the L68M substitution identified in a patient with young-onset type 2 diabetes may be a rare nonfunctional variant.
|
18162506 |
2008 |
|
rs689
|
INS;INS-IGF2
|
Latent autoimmune diabetes mellitus in adult
|
|
0.020 |
GeneticVariation |
BEFREE |
The rs2476601C/T, rs689A/T, and rs7903146C/T polymorphisms were found to be associated with the risk of LADA, thereby indicating that, genetically, LADA could be an admixture of both T1D and T2D.
|
30456822 |
2019 |
|
rs689
|
INS;INS-IGF2
|
Latent autoimmune diabetes mellitus in adult
|
|
0.020 |
GeneticVariation |
BEFREE |
The AA genotype of rs689, referring to the class I allele in the INS VNTR, as well as the CT/TT genotypes of rs2476601 in the PTPN22 gene, were increased both in type 1 diabetic (P = 3 x 10(-14) and P = 1 x 10(-10), respectively) and LADA (P = 0.001 and P = 0.002) subjects compared with control subjects.
|
18310307 |
2008 |