Genetic analysis of OCT1 gene polymorphisms in an Indian population

Gurusamy Umamaheswaran, Ramakrishnan G. Praveen, Annan S. Arunkumar, Ashok K. Das, Deepak G. Shewade, Chandrasekaran Adithan

Research output: Contribution to journalArticlepeer-review

24 Scopus citations


Background: Genetic variants of the organic cation transporter (OCT1) gene could influence interindividual variation in clinical response to metformin therapy. The genetic basis for the single-nucleotide polymorphism (SNP) of OCT1 gene has been established in other populations, but it remains to be elucidated in the Indian population. This study is focused on OCT1 gene variants rs2282143 (P341L, 1022C>T), rs628031 (M408V, 1222A>G) and rs622342 (1386C>A) frequency distributions in the South Indian Tamilian population. Materials and Methods: A total of 112 unrelated healthy subjects of South Indian Tamilian origin, aged 18-60 years, of either sex were recruited for the study. Genotyping was determined using the quantitative real time-polymerase chain reaction and polymerase chain reaction followed by restriction fragment length polymorphism methods. Results: Allele frequencies of rs2282143, rs628031and rs622342 polymorphisms were 8.9%, 80.3% and 24.5%, respectively. Interethnic differences in the genotype and allele frequencies of OCT1 gene polymorphism were observed when compared with other major populations. The SNPs rs2282143, T allele and rs628031, G allele were more common in Asians (5.5-16.8% and 76.2-81%) and African Americans (8.2% and 73.5%) than in Caucasians (0-2% and 57.4-60%). Conclusion: This is the first time the frequency of OCT1 gene polymorphism was determined in the Indian population, and is similar to the frequencies observed in African-Americans and other Asian populations but different from those in Caucasians. The data observed in this study would justify further pharmacogenetic studies to potentially evaluate the role of OCT1 gene polymorphism in the therapeutic efficacy of metformin.

Original languageEnglish (US)
Pages (from-to)164-168
Number of pages5
JournalIndian Journal of Human Genetics
Issue number3
StatePublished - Sep 2011


  • Diabetes
  • OCT1
  • metformin
  • polymorphism

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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