Dataset Information

Allele Frequency of SLC22A1 Met420del Metformin Main Transporter Encoding Gene among Javanese-Indonesian Population.

ABSTRACT: BACKGROUND:Genetic variation in the genes that encode metformin transporters has been proven to cause pharmacokinetic variability and various glycemic response to metformin. Organic Cation Transporter (OCT) 1 protein encoded by the SLC22A1 gene is primarily responsible for the process of metformin influx to the hepatocytes as the target of antihyperglycemic action as well as metformin elimination through the renal. This study aimed to determine the allele frequency distribution of the SLC22A1 Met420del gene in OCT1 among the Javanese population, the largest ethnic group in Indonesia with T2DM. METHODS:The research involved 100 adult patients from 9 healthcare facilities in Yogyakarta Province. The PCR-RFLP method was employed as a genotype analysis to detect polymorphism using 5'-AGGTTCACGGACTCTGTGCT-3' forward primer and 5'-AAGCTGGAGTGTGCGATCT-3' reverse primer. RESULTS:No AA variant (wild type) type was found in the SLC22A1 Met420del gene, and only 4% of the subjects had Aa heterozygote type. The allele frequencies of A and a were 2.0% and 98.0% in all subjects, respectively. CONCLUSION:The allele frequencies in the Javanese-Indonesian population were almost the same as those in the studies involving Japanese, Chinese-Han, and Asian-American populations. This study recommends further research on the correlation between the influence of methionine deletion at codon 420 on the variability of pharmacokinetic profiles and the glycemic response to metformin as well as the incidence of gastrointestinal intolerance due to metformin administration.

SUBMITTER: Ningrum VD

PROVIDER: S-EPMC6390162 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature

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Allele Frequency of <i>SLC22A1</i> Met420del Metformin Main Transporter Encoding Gene among Javanese-Indonesian Population.

Ningrum Vitarani DA VD Istikharah Rochmy R Firmansyah Rheza R

Open access Macedonian journal of medical sciences 20190214 3

<h4>Background</h4>Genetic variation in the genes that encode metformin transporters has been proven to cause pharmacokinetic variability and various glycemic response to metformin. Organic Cation Transporter (OCT) 1 protein encoded by the <i>SLC22A1</i> gene is primarily responsible for the process of metformin influx to the hepatocytes as the target of antihyperglycemic action as well as metformin elimination through the renal. This study aimed to determine the allele frequency distribution of ...[more]

PMID: 30834005

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Project description:UNLABELLED:Allele and genotype frequency of a genetic variant in ATM gene affecting glycemic response to metformin in South Indian population. CONTEXT:The novel polymorphism in ATM gene (rs11212617), which is implicated to have association with metformin response, exhibits inter-ethnic variability in the allele and genotype frequency distribution. AIMS AND DESIGN:The objective of the present study is to establish the allele and genotype frequency of rs11212617 single nucleotide polymorphism in ATM gene, in South Indian population and to find if this variant has any role in the etiology of type 2 diabetes mellitus. MATERIALS AND METHODS:The study was performed in 2 cohorts of populations, 112 healthy volunteers and 118 type 2 diabetes mellitus patients. Genomic deoxyribonucleic acid (DNA) was extracted from peripheral blood leucocytes by phenol-chloroform method and genotyping was performed by real-time polymerase chain reaction using TaqMan assay. RESULTS:In South Indian population, the frequency of major A allele was 0.65 and the minor C allele was 0.35. AA and CC are the homozygous genotypes with frequency of 0.39 and 0.09 respectively. The frequency of heterozygous genotype AC (0.52) was found to be higher than the homozygotes. There was no significant difference in the frequency distribution in the diabetic population, which implies that this variant does not have any causative role in the disease etiology. The frequency distributions were found to be significantly different from the distributions in other ethnic populations such as Caucasians, Chinese, Japanese and Africans. But there was no significant difference when compared with the Gujarati Indians of Houston. CONCLUSION:The frequency distribution of this novel variant in South Indian population forms a framework for further gene disease association studies to establish the association of this variant with metformin response. Our study could not find any association of this variant with respect to the disease etiology.

Dataset Information

Allele Frequency of SLC22A1 Met420del Metformin Main Transporter Encoding Gene among Javanese-Indonesian Population.

Publications

Allele Frequency of <i>SLC22A1</i> Met420del Metformin Main Transporter Encoding Gene among Javanese-Indonesian Population.

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