rs137853240, HNF1A

N. diseases: 8
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.090 GeneticVariation BEFREE The influence of exposure to diabetes in utero and the HNF-1α G319S polymorphism on the metabolic phenotype of youth with T2DM at diagnosis is unknown. 27087001 2016
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.090 GeneticVariation BEFREE When participants were stratified by baseline smoking status, HNF1A G319S carriers who were active smokers had increased risk of developing diabetes (OR 6.91 [95% CI 3.38-14.12]), while the association was attenuated to non-significance among non-smokers (1.11 [0.40-3.08]). 21208426 2011
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.090 GeneticVariation BEFREE All of the 7 offspring with diabetes have 1 or 2 copies of the G319S polymorphism. 21429061 2011
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.090 GeneticVariation BEFREE We aimed to investigate whether CRP was mediating the association between HNF1A G319S and type 2 diabetes in an Aboriginal Canadian population with a high prevalence of diabetes. 20716378 2010
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.090 GeneticVariation BEFREE A combination of abnormal splicing and reduced activity of the G319S protein may explain the diabetes susceptibility. 18586913 2008
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.090 GeneticVariation BEFREE Sigmoidal modeling showed that each dose of the G319S allele accelerated the median age of diabetes onset by about 7 yr. 12726923 2003
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.090 GeneticVariation BEFREE The demonstration of a functional consequence for HNF1A G319S provides a mechanistic basis for its strong association with Oji-Cree type 2 diabetes and its unparalleled specificity for diabetes prediction in these people, in whom diabetes presents a significant public health dilemma. 11904371 2002
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.090 GeneticVariation BEFREE This makes the HNF1A G319S genotype the most specific predictive genetic test for diabetes in any human population. 11286643 2001
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.090 GeneticVariation BEFREE Despite the failure of linkage analysis to identify HNF1A as a determinant of type 2 diabetes, we feel justified in interpreting that G319S has a very important pathogenic role in Oji-Cree diabetes, based upon the highly suggestive association studies. 10807546 2000