Abstract: Objective To study association of alleles and genotype frequencies of rs4712523 single nucleotide polymorphism in CDKAL1 gene with type 2 diabetes mellitus (T2DM) in Han population of Inner Mongolia. Methods Using allele-specific polymerase chain reaction (AS-PCR), the rs4712523 polymorphism of CDKAL1 gene was genotyped in 382 Han population of Inner Mongolia, including 190 T2DM patients and 192 controls. Results In T2DM group, the frequencies of G allele and GG genotype of rs4712523 were 47.4％and 6.3％ respectively, they were significantly higher than those (35.3％and 3.2％) in the control group (P<0.05). The risk of T2DM of G allele was 1.654 fold higher than A allele (OR=1.654, 95％CI=1.237-2.212). Conclusions G allele of rs4712523 polymorphism site in CDKAL1 gene might be a susceptible gene of T2DM in Han population of Inner Mongolia.

Key words: Type 2 diabetes 1, single nucleotide polymorphism 2, CDKAL1 3