|
rs1003887
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Significant association of, rs1047233 polymorphism with improved androgen related parameters in controls, rs2286663 polymorphism with decreased QUICKI in PCOS and rs1003887 polymorphism with increased insulin levels and HOMA-IR in controls were observed.
|
26625974 |
2016 |
|
rs1016862
|
|
|
0.010 |
GeneticVariation |
BEFREE |
MC4R variants were detected in three patients: the known I169S variant was found in heterozygote state in two patients and a novel heterozygous Y302F mutation was detected in one 12-year-old girl (BMI = 34 kg/m(2), BMI z-score 2.7) who has been overweight since the second year of life and suffered from hyperinsulinemia (at the age of 12: fasting insulin 45 mU/ml, after oral glucose load max.300 mU/ml).
|
19214805 |
2009 |
|
rs1033656351
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the Prevalence, Prediction, and Prevention of Diabetes in Botnia study, the minor allele in the missense functional variant rs1718119 (A348T) in P2RX7 was associated with increased insulin sensitivity and secretion, consistent with its known effect on increased pore function.
|
25719930 |
2015 |
|
rs10423928
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our findings suggest that schizophrenic patients with the A allele of GIPR rs10423928 are at risk of developing hyperinsulinemia when treated with antipsychotics.
|
21747410 |
2012 |
|
rs1042714
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The Gln27Glu polymorphism in β2-adrenergic receptor gene is linked to hypertriglyceridemia, hyperinsulinemia and hyperleptinemia in Saudis.
|
20738880 |
2010 |
|
rs1057515572
|
|
ACT |
0.700 |
GeneticVariation |
CLINVAR |
Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.
|
17557300 |
2007 |
|
rs1057518775
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs11171806
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In healthy controls, the rs11171806 polymorphism could decrease the genetic risk of hyperinsulinemia.
|
31237437 |
2019 |
|
rs11575937
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Through the use of focused DNA sequencing of positional candidate genes on chromosome 1q21, we discovered that FPLD results from mutations in LMNA (R482Q; OMIM 150330.0010), which is the gene that encodes nuclear lamins A and C. By stratifying members of extended FPLD pedigrees according to LMNA genotype, we found that hyperinsulinemia is present early in the course of the disease and that dyslipidemia (characterized by high triglycerides and depressed HDL cholesterol) precedes the development of glucose abnormalities.
|
11136544 |
2000 |
|
rs11575937
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy with hyperinsulinemia, dyslipidemia, hypertension, and diabetes.
|
10810087 |
2000 |
|
rs11575937
|
|
|
0.030 |
GeneticVariation |
BEFREE |
FPLD was recently discovered to result from mutated LMNA (R482Q; OMIM #150330.0010), which is the gene encoding nuclear lamins A and C. Results from extended pedigrees indicate that dyslipidemia precedes the plasma glucose abnormalities in FPLD subjects with mutant LMNA, and that the hyperinsulinemia is present early in the course of the disease.
|
11122771 |
2000 |
|
rs12143966
|
|
|
0.010 |
GeneticVariation |
BEFREE |
SFA interacted with rs12143966, wherein each 1% increase in SFA intake increased insulin by 0.0063 IU mL<sup>-1</sup> (SE ± 0.002, p = 0.001) per each major (G) allele copy. rs4925663, interacted with SFA (β ± SE = -0.0058 ± 0.002, p = 0.004) to increase insulin by 0.0058 IU mL<sup>-1</sup> , per additional copy of the major (C) allele.
|
31432628 |
2019 |
|
rs121909730
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mitochondrial GTP (mtGTP)-insensitive mutations in glutamate dehydrogenase (GDH(H454Y)) result in fasting and amino acid-induced hypoglycemia in hyperinsulinemia hyperammonemia (HI/HA).
|
25024374 |
2014 |
|
rs121909731
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Identification of the molecular dysfunction caused by glutamate dehydrogenase S445L mutation responsible for hyperinsulinism/hyperammonemia.
|
28911206 |
2017 |
|
rs121913564
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Homozygous MC4R mutations, M161T and I316S, identified separately in 2 subjects (3.2%), were associated with severe obesity, hyperphagia, hyperleptinemia and hyperinsulinemia.
|
22463805 |
2012 |
|
rs1232898090
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The Pro12Ala polymorphism in the PPAR-gamma2 gene has been associated with reduced transcriptional activity in vitro and increased insulin sensitivity in vivo.
|
11334419 |
2001 |
|
rs12970134
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In sum, our data support the associations of variants rs17782313 and rs12970134 near MC4R with early onset obesity and increased insulin levels.
|
21372613 |
2011 |
|
rs1316381133
|
|
|
0.010 |
GeneticVariation |
BEFREE |
MC4R variants were detected in three patients: the known I169S variant was found in heterozygote state in two patients and a novel heterozygous Y302F mutation was detected in one 12-year-old girl (BMI = 34 kg/m(2), BMI z-score 2.7) who has been overweight since the second year of life and suffered from hyperinsulinemia (at the age of 12: fasting insulin 45 mU/ml, after oral glucose load max.300 mU/ml).
|
19214805 |
2009 |
|
rs13266634
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Consistent with these findings, ZnT8KO mice and human individuals carrying rs13266634, a major risk allele of SLC30A8, exhibited increased insulin clearance, as assessed by c-peptide/insulin ratio.
|
24051378 |
2013 |
|
rs137852671
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We have described a dominant heterozygous mutation--E1506K--in the sulfonylurea receptor 1 (SUR1) gene (ABCC8) in a Finnish family, which leads to congenital hyperinsulinaemia due to reduction of K(ATP)-channel activity.
|
12559865 |
2003 |
|
rs137852671
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Conversely, no E1506K currents were recorded at rest or after metabolic inhibition, as expected for a mutation causing hyperinsulinemia.
|
21617188 |
2011 |
|
rs146488435
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Kcnh6 knockout (KO) or Kcnh6 p.P235L knockin (KI) mice had a phenotype characterized by changing from hypoglycemia with hyperinsulinemia to hyperglycemia with insulin deficiency.
|
30590050 |
2018 |
|
rs146695489
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Octreotide-induced long QT syndrome in a child with congenital hyperinsulinemia and a novel missense mutation (p.Met115Val) in the ABCC8 gene.
|
24080777 |
2013 |
|
rs148969251
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A functional Tyr1306Cys variant in LARG is associated with increased insulin action in vivo.
|
16644711 |
2006 |
|
rs1718119
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the Prevalence, Prediction, and Prevention of Diabetes in Botnia study, the minor allele in the missense functional variant rs1718119 (A348T) in P2RX7 was associated with increased insulin sensitivity and secretion, consistent with its known effect on increased pore function.
|
25719930 |
2015 |