Background: Diabetes Mellitus (DM) is a chronic metabolic disease caused by the failure of the
pancreas to produce the hormone insulin or ineffective use of the hormone insulin. It is estimated that
537 million adults aged 20-79 years worldwide suffer from DM. Genetics is one of the risk factors
involved in the pathophysiology of type 2 DM. The KCNJ11 gene encodes the Kir6.2 protein that is
responsible for adenosine triphosphate-sensitive potassium ion channels (kATP) synthesis in
pancreatic beta cells plasma membrane.
Aims: This study aims to examine the KCNJ11 rs5219 gene polymorphism as a risk factor for type 2
diabetes mellitus in Cirebon population.
Methods: This case control study involved 29 cases of type 2 diabetes mellitus and 29 healthy controls
with purposive sampling technique. Sample data was obtained through the examination of blood
sugar, DNA extraction, PCR-RFLP with Eco24I restriction enzyme, then visualization of the results with
Gel Electrophoresis.
Results: The frequency of G allele was found more in the case group (70%) while the frequency of A
allele was found more in the control group (38%). The frequency of heterozygous GA genotype was
found more in the control group (48.3%) and the frequency of homozygous mutant AA genotype was
more in the case group (17.2%) compared to the control group (13.8%). Chi-Square Test results
obtained p-value 0.115, OR value 2.318.
Conclusion: This study showed no significant association between Potassium Inwardly Rectifying
Channel Subfamily J Member 11 (KCNJ11) rs5219 gene polymorphism and the incidence of Type 2
Diabetes Mellitus in Cirebon population.
Keywords: KCNJ11 gene; rs5219 polymorphism; Type 2 diabetes mellitus