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Genotype frequencies of 

polymorphic MDR1 variants in the 

Kazakhstani population 

 

 

Samat Kozhakhmetov, Adil 

Supiyev, Almagul Kushugulova, 

Indira Tynybayeva, Alibek 

Kossumov, Leila Utepova, Saule 

Saduakhasova, Gulnara 

Shakhabayeva, Talgat Nurgozhin, 

Zhaxybay Zhumadilov 
 
Center for Life Sciences, Nazarbayev 
University, Astana, Kazakhstan 

 

Vol. 2, Suppl. (2013)   |   ISSN 2166-7403 (online)     

DOI 10.5195/cajgh.2013.118   |   http://cajgh.pitt.edu 

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KOZHAKHMETOV 

 

 

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of its D-Scribe Digital Publishing Program and is cosponsored by the University of Pittsburgh Press. 

 

Central Asian Journal of Global Health 

Volume 2, Suppl. (2013)  |  ISSN 2166-7403 (online) |  DOI 10.5195/cajgh.2013.118 |  http://cajgh.pitt.edu 

  

 

Abstract 

Introduction: Statins appear to be handled by an ATP-dependent membrane transporter and three SNPs (C1236T (rs1128503), 

G2677T (rs2032582), and C3435T (rs1045642), which capture the common genetic variation at this locus. Individuals, who carry 

the T allele at each SNP (i.e., the T-T-T haplotype), have higher systemic exposure to simvastatin. 

 

A triallelic thymine (T) - guanine (G) - adenine (A), which is  a point mutation at nucleotide 2677 in exon 22, leads to ABCB1 in 

a non-synonymous codons (GCT alanine, TCT serine, threonine ACT) at position 893 in a cytoplasmic loop of ATP-dependent 

membrane transporters. 

 

Methods: Blood samples from healthy individuals were collected in the Republican Diagnostic Center, Astana, Kazakhstan. The 

research samples included 461 healthy people. Genomic DNA was extracted from peripheral blood using the ‘salting out’ 

procedure. For the MDR1 exon 21, 2677G˃T/A (Ala893Ser/Thr) polymorphism was genotyped by PCR sequencing by the use of 

dye-terminator (ABI 3730xl sequencer). 

 

Results: The GG allele appeared in 23% of samples, the GA in 6.7%, the GT in 44%, the non-G heterozygote in 4.5%, and the 

non-G homozygote in 18%. These results are consistent with previously published data. Importantly, the frequency of 2677T 

alleles in our group was 15.4%. This represents the lowest frequency of this allele compared to published data in different 

populations. The frequency of the 2677T allele in Asians and Caucasians varies from 38 to 62%, and is 15% for African 

Americans. On the other hand, the 2677A allele frequency in the Japanese varies from 15 to 22%, and in Caucasians from 2% 

and 4%. The 2677A allele frequency has been found in 4.6% of samples. 

 

Conclusions: Our study further emphasizes differences between various Asian populations and the importance of repeating this 

genetic study  in different ethnic groups. 

Keywords: genotype, MDR1, Kazakh population 

 

 

 

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