Background: Single Nucleotide Polymorphisms (SNPs) in metformin transporter
genes play an important role as the cause of inter-individual variability in metformin
response. The SLC22A1 as an Organic Cation Transporter (OCT)1 coding gene is
responsible for the metformin influx to hepatocytes, while the efflux to bile and excretion
through the kidney are mainly facilitated by Multidrug and Toxin Extrusion (MATE)1
transporter coded by the SLC47A1.
Objective: This study aimed to determine the distribution of allele frequencies in rs628031
A>G (M408V) OCT1 and rs2289669 G>A MATE1 among the Javanese population as the
largest ethnic group in Indonesia with type-2 diabetes mellitus (T2DM).
Method: The study involved 86 adult patients with T2DM. The genotyping to analyze the
target SNPs used the PCR-RFLP method.
Results: The frequencies of G allele of rs628031 in SLC22A1 and A allele of rs2289669 in
SLC47A1 were 60.47% and 61.05% respectively. There was no significant correlation of
the allele frequencies of both SLC22A1 rs628031 and SLC22A1 rs628031 between female
and male patients (P>0.05).
Conclusion: The allele frequency of SLC22A1 gene rs628031 in Javanese-Indonesian
population was almost the same as those found in Afro-American population as well as in
other Asian populations. Similar results were obtained when the A allele frequency of
SLC47A1 rs2289669 was compared to those in Chinese population. Further studies are
recommended to examine the correlation between these polymorphisms and the variability
of pharmacokinetic profiles as well as glycemic response to metformin and its adverse reactions.