Gene: PDX1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852783
rs137852783
PDX1
0.760 GeneticVariation BEFREE The T-allele of the SNP rs12255372 of TCF7L2 (OR = 2.70, 95% CI = 1.12-6.49, P = 0.027) and the A-allele of PDX-1 D76N (OR = 3.93, 95% CI = 1.60-7.68, P = 0.002) were significantly associated with an increased risk of T2DM. 26058934

2015
dbSNP: rs137852783
rs137852783
PDX1
0.760 GeneticVariation BEFREE So far, this is the largest association study regarding the effect of D76N IPF1 on T2D. 17592437

2007
dbSNP: rs137852783
rs137852783
PDX1
0.760 GeneticVariation BEFREE The D76N variant of PDX1 does not significantly alter insulin secretion or act as a high-risk susceptibility allele for late-onset type 2 diabetes as proposed previously, although we cannot exclude a minor role in increasing risk of diabetes. 15277425

2004
dbSNP: rs137852783
rs137852783
PDX1
0.760 GeneticVariation BEFREE We genotyped U.S. Caucasians with (n = 217) and without (n = 176) Type 2 diabetes to determine if three previously identified variants (Cys18Arg, Asp76Asn, Arg197His) in the IPF-1 gene play a role in the development of Type 2 diabetes. 11914043

2002
dbSNP: rs137852783
rs137852783
PDX1
0.760 GeneticVariation BEFREE The D76N variant was found in one MODY3 family (S315fsinsA of HNF1alpha) and also in two families with late-onset Type II diabetes. 11270685

2001
dbSNP: rs137852783
rs137852783
PDX1
0.760 GeneticVariation BEFREE In the patients with late-onset type 2 diabetes we identified a noncoding G insertion/deletion polymorphism at nucleotide -108, a silent G54G, and a rare missense D76N variant. 10720084

2000
dbSNP: rs137852783
rs137852783
PDX1
A 0.760 SusceptibilityMutation CLINVAR

dbSNP: rs137852786
rs137852786
PDX1
0.720 GeneticVariation BEFREE We genotyped U.S. Caucasians with (n = 217) and without (n = 176) Type 2 diabetes to determine if three previously identified variants (Cys18Arg, Asp76Asn, Arg197His) in the IPF-1 gene play a role in the development of Type 2 diabetes. 11914043

2002
dbSNP: rs137852786
rs137852786
PDX1
0.720 GeneticVariation BEFREE Three novel IPF-1 missense mutations (C18R, D76N, and R197H) were identified in patients with type 2 diabetes. 10545530

1999
dbSNP: rs137852786
rs137852786
PDX1
A 0.720 SusceptibilityMutation CLINVAR

dbSNP: rs137852785
rs137852785
PDX1
0.710 GeneticVariation BEFREE We genotyped U.S. Caucasians with (n = 217) and without (n = 176) Type 2 diabetes to determine if three previously identified variants (Cys18Arg, Asp76Asn, Arg197His) in the IPF-1 gene play a role in the development of Type 2 diabetes. 11914043

2002
dbSNP: rs137852785
rs137852785
PDX1
C 0.710 SusceptibilityMutation CLINVAR

dbSNP: rs137852784
rs137852784
PDX1
T 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs80356661
rs80356661
PDX1
T 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs137852787
rs137852787
PDX1
0.010 GeneticVariation BEFREE The E224K mutation cosegregated with early-onset diabetes or impaired glucose tolerance in a large family, suggestive of the type 4 form of maturity-onset diabetes of the young rather than type 2 diabetes. 14764823

2004
dbSNP: rs199644078
rs199644078
PDX1
0.010 GeneticVariation BEFREE The P239Q variant was identified in two families with early-onset diabetes including one with MODY3 (R272C of HNF1alpha) and in three families with late-onset Type II diabetes. 11270685

2001