|
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 |
|
rs587777260
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In humans, a truncation mutation (R363X) in one allele of AS160 decreased the expression of the protein and caused severe postprandial hyperinsulinaemia during puberty.
|
23078342 |
2013 |
|
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 |
|
rs587777260
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A female presenting at age 11 years with acanthosis nigricans and extreme postprandial hyperinsulinemia was heterozygous for a premature stop mutation (R363X) in TBC1D4.
|
19470471 |
2009 |
|
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 |
|
rs11171806
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In healthy controls, the rs11171806 polymorphism could decrease the genetic risk of hyperinsulinemia.
|
31237437 |
2019 |
|
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 |
|
rs2066808
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In patients, the rs2066808 polymorphism could decrease the genetic risk of hyperinsulinemia, insulin resistance, and hypoalphalipoproteinemia, and increase the genetic risk of hyperuricemia, whereas the rs11171806 polymorphism could decrease the genetic risk of hyperinsulinemia and insulin resistance.
|
31237437 |
2019 |
|
rs4925663
|
|
|
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 |
|
rs628031
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, PCOS patients with the G allele of <i>OCT1</i> rs683369 and/or with the A allele of <i>OCT1</i> rs628031 had increased insulin sensitivity compared to those with wild-type genotype after receiving metformin treatment.
|
30959948 |
2019 |
|
rs683369
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, PCOS patients with the G allele of <i>OCT1</i> rs683369 and/or with the A allele of <i>OCT1</i> rs628031 had increased insulin sensitivity compared to those with wild-type genotype after receiving metformin treatment.
|
30959948 |
2019 |
|
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 |
|
rs2920502
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The GG genotype of rs2920502 in PPAR<i>γ</i> had better blood glucose and increased insulin secretion and had lower HOMA-IR than GC/CC genotypes.
|
29849618 |
2018 |
|
rs121909731
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Identification of the molecular dysfunction caused by glutamate dehydrogenase S445L mutation responsible for hyperinsulinism/hyperammonemia.
|
28911206 |
2017 |
|
rs2288377
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The linear regression model also indicated that the A allele of rs2288377 was associated with decreased insulin sensitivity (HOMA-S index, β=-0.159, P=0.001; fasting insulin, β=0.143, P=0.001) and increased insulin secretion (HOMA-B index, β=0.114, P=0.017; insulin AUC, β=0.042, P=0.002).
|
28761040 |
2017 |
|
rs56149945
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The N363S polymorphism has been associated with increased sensitivity to glucocorticoides, increased insulin response to dexamethasone and increased plasma glucose level.
|
28397446 |
2017 |
|
rs5742612
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The C allele of rs5742612 was found to be associated with decreased insulin sensitivity (HOMA-S index, β=-0.131, P=0.008; fasting insulin level, β=0.022, P=0.006) and increased insulin secretion (HOMA-B index, β=0.099, P=0.008; insulin AUC, β=0.112, P=0.012).
|
28761040 |
2017 |
|
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 |
|
rs2476601
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The resulting Ptpn22(R619W) mice showed increased insulin autoantibodies and earlier onset and higher penetrance of T1D.
|
27207523 |
2016 |
|
rs35568725
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The perilipin 2 (PLIN2) gene Ser251Pro missense mutation is associated with reduced insulin secretion and increased insulin sensitivity in Italian obese subjects.
|
26443937 |
2016 |
|
rs79874540
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The HTR2B Q20* allele and testosterone predicted lower BMI independently, but an interaction between HTR2B Q20* and testosterone lead to increased insulin sensitivity among HTR2B Q20* carriers with low testosterone levels.
|
27420381 |
2016 |
|
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 |
|
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 |
|
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 |
|
rs225017
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The rs225017 polymorphism in the 3'UTR of the human DIO2 gene is associated with increased insulin resistance.
|
25105294 |
2014 |