|
rs1057518775
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs193922479
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs587777732
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs886041065
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1801282
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Pro12Ala, a missense mutation in exon 2 of PPARG, reduces transcriptional activity of PPARgamma2 and is shown to be associated with increased insulin sensitivity and protection from T2D.
|
20368233 |
2010 |
|
rs1805192
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Pro12Ala, a missense mutation in exon 2 of PPARG, reduces transcriptional activity of PPARgamma2 and is shown to be associated with increased insulin sensitivity and protection from T2D.
|
20368233 |
2010 |
|
rs1801282
|
|
|
0.090 |
GeneticVariation |
BEFREE |
A common polymorphism (Pro12Ala) of the adipose tissue-specific gamma 2 isoform is associated with increased insulin sensitivity and decreased risk of developing type 2 diabetes.
|
12643137 |
2002 |
|
rs1805192
|
|
|
0.090 |
GeneticVariation |
BEFREE |
A common polymorphism (Pro12Ala) of the adipose tissue-specific gamma 2 isoform is associated with increased insulin sensitivity and decreased risk of developing type 2 diabetes.
|
12643137 |
2002 |
|
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 |
|
rs148969251
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A functional Tyr1306Cys variant in LARG is associated with increased insulin action in vivo.
|
16644711 |
2006 |
|
rs776234219
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1).
|
23488611 |
2013 |
|
rs866477740
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1).
|
23488611 |
2013 |
|
rs373115603
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1).
|
23488611 |
2013 |
|
rs225014
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A single-nucleotide polymorphism in D2 (Thr92Ala) has been associated with increased insulin resistance in nondiabetic and type 2 diabetes (DM2) subjects.
|
20566590 |
2010 |
|
rs1801282
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Among the genetic factors, a polymorphism (Pro12Ala) in the peroxisome proliferator-activated receptor (PPAR) gamma is associated with a reduced risk of type 2 diabetes mellitus and increased insulin sensitivity, primarily that of lipolysis.
|
11684868 |
2001 |
|
rs1805192
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Among the genetic factors, a polymorphism (Pro12Ala) in the peroxisome proliferator-activated receptor (PPAR) gamma is associated with a reduced risk of type 2 diabetes mellitus and increased insulin sensitivity, primarily that of lipolysis.
|
11684868 |
2001 |
|
rs11575937
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy with hyperinsulinemia, dyslipidemia, hypertension, and diabetes.
|
10810087 |
2000 |
|
rs2918419
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Carrying Bcl1 variant alleles without rs2918419</span> was not associated with hyperinsulinaemia/insulin resistance.
|
18194492 |
2008 |
|
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 |
Conversely, no E1506K currents were recorded at rest or after metabolic inhibition, as expected for a mutation causing hyperinsulinemia.
|
21617188 |
2011 |
|
rs33997857
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Decreased expression of lipin-1 in adipose tissue correlates with increased insulin resistance, and tagging of the LPIN1 locus has shown that rs33997857, rs6744682, and rs6708316 associate with metabolic phenotypes, specifically body mass index (BMI) and fasting serum lipid levels, both on the individual single-nucleotide polymorphism level and with a three-marker haplotype.
|
20356931 |
2010 |
|
rs6708316
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Decreased expression of lipin-1 in adipose tissue correlates with increased insulin resistance, and tagging of the LPIN1 locus has shown that rs33997857, rs6744682, and rs6708316 associate with metabolic phenotypes, specifically body mass index (BMI) and fasting serum lipid levels, both on the individual single-nucleotide polymorphism level and with a three-marker haplotype.
|
20356931 |
2010 |
|
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 |
|
rs9997745
|
|
|
0.010 |
GeneticVariation |
BEFREE |
GG homozygotes for rs9997745 had increased MetS risk {odds ratio (OR) 1.90 [confidence interval (CI) 1.15, 3.13]; P = 0.01}, displayed elevated fasting glucose (P = 0.001) and insulin concentrations (P = 0.002) and increased insulin resistance (P = 0.03) relative to the A allele carriers.
|
20176858 |
2010 |
|
rs268
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Heterozygosity for Asn291-->Ser mutation in the lipoprotein lipase gene in two Finnish pedigrees: effect of hyperinsulinemia on the expression of hypertriglyceridemia.
|
8732773 |
1996 |