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GSTM1 copy number variation in the context of single nucleotide polymorphisms in the human GSTM cluster

Overview of attention for article published in Molecular Cytogenetics, April 2016
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Title
GSTM1 copy number variation in the context of single nucleotide polymorphisms in the human GSTM cluster
Published in
Molecular Cytogenetics, April 2016
DOI 10.1186/s13039-016-0241-0
Pubmed ID
Authors

Andrey V. Khrunin, Irina N. Filippova, Aydar M. Aliev, Tat’yana V. Tupitsina, Petr A. Slominsky, Svetlana A. Limborska

Abstract

GSTM1 gene deletion is one of the most known copy number polymorphisms in human genome. It is most likely caused by homologous recombination between the repeats flanking the gene. However, taking into account that the deletion has no crucial effects on human well-being, and the ability of other GSTMs to compensate for the lack of GSTM1, a role for additional factors affecting GSTM1 deletion can be proposed. Our goal was to explore the relationships between GSTM1 deletion polymorphism and single nucleotide polymorphisms (SNPs) in the region of the GSTM cluster that includes GSTM2, GSTM3, GSTM4, and GSTM5 in addition to GSTM1. Real-time polymerase chain reaction was used to quantify the number of GSTM1 copies. Fourteen SNPs from the region were tested and their allelic patterns were compared in groups of Russian individuals subdivided according to their GSTM1 deletion genotypes. Linkage disequilibrium-based haplotype analysis showed substantial differences of haplotype frequencies between the groups, especially between individuals with homozygous GSTM1 -/- and +/+ genotypes. Exploration of the results of phasing of GSTM1 and SNP genotypes revealed unequal segregation of GSTM1 + and - alleles at different haplotypes. The observed differences in haplotype patterns suggest the potential role of genetic context in GSTM1 deletion frequency (appearance) and in the determination of the deletion-related effects.

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Mendeley readers

The data shown below were compiled from readership statistics for 14 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 14 100%

Demographic breakdown

Readers by professional status Count As %
Student > Postgraduate 2 14%
Researcher 2 14%
Student > Ph. D. Student 2 14%
Student > Bachelor 2 14%
Student > Doctoral Student 1 7%
Other 3 21%
Unknown 2 14%
Readers by discipline Count As %
Medicine and Dentistry 5 36%
Agricultural and Biological Sciences 3 21%
Unspecified 1 7%
Immunology and Microbiology 1 7%
Biochemistry, Genetics and Molecular Biology 1 7%
Other 1 7%
Unknown 2 14%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 22 April 2016.
All research outputs
#3,921,760
of 7,588,328 outputs
Outputs from Molecular Cytogenetics
#81
of 225 outputs
Outputs of similar age
#144,744
of 266,863 outputs
Outputs of similar age from Molecular Cytogenetics
#3
of 4 outputs
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