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

IRS1

Gene name: insulin receptor substrate 1
OMIM ID: 147545
Chromosome location: 2q36.3

Polymorphisms

Disease/PhenotypeDiabetes mellitus, type 2 (T2DM), susceptibility to
Reference transcriptNT_005403.17
DNA Changeg.77303163T>C
A.A. Change
Variation Typesubstitution
Reference SNPrs2943641
Cases1193 T2D cases
Controls1055 normoglycaemic controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C58.6%58.1%Dominant: 1.12 (0.88-1.45)0.34
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.