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

KLHDC5

Gene name: kelch domain containing 5
OMIM ID:
Chromosome location: 12p11.22

Polymorphisms

Disease/PhenotypeDiabetes mellitus, type 2 (T2DM), susceptibility to
Reference transcriptNM_020782.1
DNA Changec.1066+24G>A
A.A. Change
Exon/IntronIntron
Variation Typeothers
Reference SNPrs2288232
Cases1193 T2D cases
Controls1055 normoglycaemic controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
A61.2%61.4%Dominant: 1.08 (0.83-1.39)0.59
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.

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