CDKAL1

Gene name: CDK5 regulatory subunit associated protein 1-like 1
OMIM ID: 611259
Chromosome location: 6p22.3

Polymorphisms

Disease/Phenotype	Diabetes mellitus, type 2 (T2DM), susceptibility to
Reference transcript	NM_017774.3
DNA Change	c.371+30101A>G
A.A. Change
Exon/Intron	Intron
Variation Type	substitution
Reference SNP	rs7756992
Cases	1193 T2D cases
Controls	1055 normoglycaemic controls
Frequency	Allele/Genotype Frequency in cases Frequency in controls OR (95%CI) P-value G 33.2% 31.1% Recessive: 1.40 (1.04-1.88)   0.03
Comments	Polymorphism associated with type 2 diabetes in the Moroccan sample population
Reference	Cauchi 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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Disease/Phenotype	Diabetes mellitus, type 2 (T2DM), susceptibility to
Reference transcript	NC_000006.11
DNA Change	g.20679709A>G
A.A. Change
Exon/Intron	intron 5
Variation Type	substitution
Reference SNP	rs7756992
Cases	250
Controls	250
Frequency	Allele/Genotype Frequency in cases Frequency in controls OR (95%CI) P-value A 63.6% 67.6% 1 G 36.4% 32.4% 1.19 (0.919-1.54) 0.18 AA 38% 45.2% 1 AG 51.2% 44.8% 1.30 (0.89-1.91) 0.166 GG 10.8% 10% 1.12 (0.60-2.11) 0.705 AG+GG 62% 54.8% 1.26 (0.88-1.82) 0.19
Reference	Benrahma H, Charoute H, Lasram K, Boulouiz R, Atig RK, Fakiri M, Rouba H, Abdelhak S, Barakat A.Association analysis of IGF2BP2, KCNJ11, and CDKAL1 polymorphisms with type 2 diabetes mellitus in a Moroccan population: a case-control study and meta-analysis. Biochem Genet. 2014 Oct;52(9-10):430-42.

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