期刊论文详细信息
BMC Genetics
Analysis of DNA variations in GSTA and GSTM gene clusters based on the results of genome-wide data from three Russian populations taken as an example
Svetlana A Limborska1  Andrey V Khrunin1  Irina N Filippova1 
[1] Department of Molecular Bases of Human Genetics, Institute of Molecular Genetics, Russian Academy of Sciences, Moscow, Russia
关键词: Haplotypes;    GSTA;    GSTM;    Single nucleotide polymorphism;   
Others  :  1089686
DOI  :  10.1186/1471-2156-13-89
 received in 2012-06-09, accepted in 2012-10-18,  发布年份 2012
PDF
【 摘 要 】

Background

Extensive genome-wide analyses of many human populations, using microarrays containing hundreds of thousands of single-nucleotide polymorphisms, have provided us with abundant information about global genomic diversity. However, these data can also be used to analyze local variability in individual genomic regions. In this study, we analyzed the variability in two genomic regions carrying the genes of the GSTA and GSTM subfamilies, located on different chromosomes.

Results

Analysis of the polymorphisms in GSTA and GSTM gene clusters showed similarities in their allelic and haplotype diversities. These patterns were similar in three Russian populations and the CEU population of European origin. There were statistically significant differences in all the haploblocks of both the GSTM and GSTA regions when the Russian populations were compared with populations from China and Japan. Most haploblocks also differed between the Russians and Nigerians from Yoruba, but, some of them had similar allelic frequencies. Special attention was paid to SNP rs4986947 from the intron of the GSTA4 gene, which is represented in apes by an A nucleotide. In the Asian and African samples, it was represented only by a G allele, and both allelic variants (G/A) occurred in the Russian and European populations.

Conclusions

The results obtained suggest the presence of common features in the evolutionary histories of the GSTA and GSTM gene regions, and that African subpopulations were involved differently in the formation of the European and Asian human lineages.

【 授权许可】

   
2012 Filippova et al.; licensee BioMed Central Ltd.

【 预 览 】
附件列表
Files Size Format View
20150127012111569.pdf 743KB PDF download
Figure 3. 70KB Image download
Figure 2. 43KB Image download
Figure 1. 62KB Image download
【 图 表 】

Figure 1.

Figure 2.

Figure 3.

【 参考文献 】
  • [1]Hayes JD, Flanagan JU, Joowsey IR: Glutation transferases. Annu Rev Pharmacol Toxicol 2005, 45:51-88.
  • [2]Oakley A: Glutathione transferases: a structural perspective. Drug Metab Rev 2011 , 43(2):138-151.
  • [3]Garte S, Gaspari L, Alexandrie AK, et al.: Metabolic gene polymorphism frequencies in control population. Cancer Epidemiol Biomarkers Prev 2001, 10:1239-1248.
  • [4]Frova C: Glutatione transferases in the genomics era: new insights and perspectives. Biomol Eng 2006, 23:149-169.
  • [5]Polimanti R, Piacentini S, Fuciarelli M: HapMap-based study of human soluble glutathione S-transferase enzymes: the role of natural selection in shaping the single nucleotide polymorphism diversity of xenobiotic-metabolizing genes. Pharmacogenet Genomics 2011, 10:665-672.
  • [6]Nelis M, Esko T, Magi R, et al.: Genetic structure of Europeans: a view from the north–east. PLoS One 2009, 4:e5472.
  • [7]Limborska S, Khrunin A, Filippova I, Khokhrin D, Bebyakova N, Bolotova N, Esko E, Metspalu A: Genomic variations in populations from the far north east corner of Europe. Cold Spring Harbor Laboratory, New York; 2012:167. [Abstracts of papers presented at the 2012 meeting on the “biology of genomes”]
  • [8]International HapMap project. http://www.hapmap.ncbi.nlm.nih.gov/ webcite
  • [9]Milligan BG: Total DNA isolation. In Molecular genetic analysis of populations. Edited by Hoelzel AR. Oxford University Press, London; 1998:29-60.
  • [10]Weir BS, Cockerham CC: Estimating F-statistics for the analysis of population structure. Evolution 1984, 38:1358-1370.
  • [11]Liu K, Muse SV: PowerMarker: an integrated analysis environment for genetic marker analysis. Bioinformatics 2005, 21:2128-2129.
  • [12]Barrett JC, Fry B, Maller J, Daly MJ: Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005, 21:263-265.
  • [13]Lewontin RC: On measures of gametic disequilibrium. Genetics 1988, 20:849-852.
  • [14]Reynolds J, Weir BS, Cockerham CC: Estimation of the co ancestry coefficient: basis for a short-term genetic distance. Genetics 1983, 105:767-779.
  • [15]Khrunin A, Mihailov E, Nikopensius T, Krjutškov K, Limborska S, Metspalu A: Analysis of allele and haplotype diversity across 25 genomic regions in three eastern European populations. Hum Hered 2009, 68:35-44.
  • [16]Glantz S: Primer of BIOSTATISTICS. Praktica, Moscow; 1999.
  • [17]Bauchet M, McEvoy B, Pearson LN, Quillen EE, Sarkisian T, et al.: Measuring European population stratification with microarray genotype data. Am J Hum Genet 2007, 80:948-956.
  • [18]Ensemble. http://www.ensembl.org webcite
  • [19]1000 Genomes. A deep catalog of human genetic variation. http://browser.1000genomes.org webcite
  • [20]McEvoy BP, Powell JE, Goddard ME, Visscher PM: Human population dispersal “Out of Africa” estimated from linkage disequilibrium and allele frequencies of SNPs. Genome Res 2011, 6:821-829.
  文献评价指标  
  下载次数:47次 浏览次数:7次