Genetic polymorphisms of pharmacogenomic VIP variants in the Uygur population from northwestern China.

Li Wang,Ayiguli Yibulayin,Yuan Zhang,Tianbo Jin,Shuli Du,Ainiwaer Aikemu,Tingting Geng,Bo Wang,Jie Yang

doi:10.1186/s12863-015-0232-x

Abstract

BackgroundDrug response variability observed amongst patients is caused by the interaction of both genetic and non-genetic factors, and frequencies of functional genetic variants are known to vary amongst populations. Pharmacogenomic research has the potential to help with individualized treatments. We have not found any pharmacogenomics information regarding Uygur ethnic group in northwest China. In the present study, we genotyped 85 very important pharmacogenetic (VIP) variants (selected from the PharmGKB database) in the Uygur population and compared our data with other eleven populations from the HapMap data set.ResultsThrough statistical analysis, we found that CYP3A5 rs776746, VKORC1 rs9934438, and VKORC1 rs7294 were most different in Uygur compared with most of the eleven populations from the HapMap data set. Compared with East Asia populations, allele A of rs776746 is less frequent and allele A of rs7294 is more frequent in the Uygur population. The analysis of F-statistics (Fst) and population structure shows that the genetic background of Uygur is relatively close to that of MEX.ConclusionsOur results show significant differences amongst Chinese populations that will help clinicians triage patients for better individualized treatments.

Highlights

Drug response variability observed amongst patients is caused by the interaction of both genetic and non-genetic factors, and frequencies of functional genetic variants are known to vary amongst populations
Pharmacogenetics and pharmacogenomics deal with possible associations of a single genetic polymorphism or multiple gene profiles and
Blood samples were taken according to the study protocol, which was approved by the Clinical Research Ethics of Northwest University, Tibet University for Nationalities, Xinjiang Medical University, and the people’s hospital of Xinjiang Uygur Autonomous Region

Summary

Introduction

Drug response variability observed amongst patients is caused by the interaction of both genetic and non-genetic factors, and frequencies of functional genetic variants are known to vary amongst populations. Pharmacogenetics and pharmacogenomics deal with possible associations of a single genetic polymorphism or multiple gene profiles and Recent studies have shown that certain genes have close relationships with the outcomes of drug therapy and that different genotypes may determine how the patient responds to a drug. These gene variants are called very important pharmacogenetic (VIP) variants [5], and are listed in the Pharmacogenomics Knowledge Base (PharmGKB: http://www.pharmgkb.org). There are 126 VIP variants that occur in 44 different genes and variously code for cytochrome P450 oxidases, drug targets, drug receptors, and drug transporters

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