Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

HNF1B

Gene name: HNF1 homeobox B
OMIM ID: 189907
Chromosome location: 17q12

Polymorphisms

Disease/PhenotypeDiabetes mellitus, type 2 (T2DM), susceptibility to
Reference transcriptNM_000458.2
DNA Changec.545-2701A>T
A.A. Change
Exon/IntronIntron
Variation Typesubstitution
Reference SNPrs757210
Cases1193 T2D cases
Controls1055 normoglycaemic controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
T37.2%37.6%Recessive: 0.80 (0.61?1.06)0.12
Commentspolymorphism not associated with type 2 diabetes in the Moroccan sample population
ReferenceCauchi S, Ezzidi I, El Achhab Y, Mtiraoui N, Chaieb L, Salah D, Nejjari C, Labrune Y, Yengo L, Beury D, Vaxillaire M, Mahjoub T, Chikri M, Froguel P.European genetic variants associated with type 2 diabetes in North African Arabs.
Diabetes Metab. 2012 Mar 29.
Disease/PhenotypeDiabetes mellitus, type 2 (T2DM), susceptibility to
Reference transcriptNM_000458.2
DNA Changeg.36098040G>A
A.A. Change
Exon/IntronIntron
Variation Typesubstitution
Reference SNPrs4430796
Cases1193 T2D cases
Controls1055 normoglycaemic controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
G66.5%65.4%Dominant: 1.10 (0.81-1.47)0.55
Commentspolymorphism not associated with type 2 diabetes in the Moroccan sample population
ReferenceCauchi S, Ezzidi I, El Achhab Y, Mtiraoui N, Chaieb L, Salah D, Nejjari C, Labrune Y, Yengo L, Beury D, Vaxillaire M, Mahjoub T, Chikri M, Froguel P.European genetic variants associated with type 2 diabetes in North African Arabs.
Diabetes Metab. 2012 Mar 29.