1. Transcriptomic population markers for human population discrimination
- Author
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Michal Swierniak, Roman Jaksik, Barbara Jarzab, Ewa Ziętkiewicz, Malgorzata Oczko-Wojciechowska, Tomasz Tyszkiewicz, Jadwiga Zebracka-Gala, Patrycja Daca-Roszak, and Michał Witt
- Subjects
0106 biological sciences ,0301 basic medicine ,Forensic Genetics ,Male ,lcsh:QH426-470 ,Population ,Population-specific mRNA markers ,Biology ,Real-Time Polymerase Chain Reaction ,01 natural sciences ,Illumina platform ,White People ,Cell Line ,Transcriptome ,03 medical and health sciences ,Asian People ,Gene expression ,Classifier testing ,Genetics ,Humans ,education ,Gene ,Genetics (clinical) ,Messenger RNA ,education.field_of_study ,Decision-tree ,Microarray analysis techniques ,Sequence Analysis, RNA ,Gene Expression Profiling ,TLDA cards ,Gene expression study ,Human population identification ,Peripheral blood ,Biological materials ,Molecular Typing ,lcsh:Genetics ,030104 developmental biology ,Biomarkers ,010606 plant biology & botany ,Research Article - Abstract
Background Numerous studies have demonstrated significant differences in the expression level across continental human populations. Most of published results were performed on B-cell lines materials examined under specific laboratory conditions, without further validation in a primary biological material. The goal of our study was to identify mRNA markers characterized by a significant and stable difference in the gene expression profile in Caucasian and Chinese populations, both in the commercially available B-lymphocyte cell lines and in the primary samples of the peripheral blood. Results The preliminary selection of population-differentiating transcripts was based on Illumina expression microarray analysis of the representative group of ethnically-specified B-lymphocyte cell lines. Twenty genes with the inter-population difference in the mean expression characterized by the at least 1.5-fold change and FDR 2 were chosen for validation. The differentiating status was confirmed for all of them: UTS2, UGT2B17 and SLC7A7. The mean expression of UTS2 was higher in CHB (25.8-fold change compared to CEU), while the expression of UGT2B17 and SLC7A7 was higher in CEU (3.2- and 2.2-fold change, respectively). In the next validation step, two transcripts were verified in the primary biological material. As an ultimate result of our study, two mRNA markers (UTS2 and UGT2B17) exhibiting population differences in the expression level in both B-cell line and in the blood were identified. Further statistical analysis confirmed the discriminatory potential of these two markers. Conclusions An inter-population differences on the level of gene expression were identified in both B-cell lines and peripheral blood samples. These findings may have a practical application in the field of forensic science. In particular, these transcripts, targeted by specific probes, may be used as population-specific targets in the efforts aiming to separate mixture of blood from individuals of different populations. Notwithstanding, these results have to be confirmed on extended population group. Electronic supplementary material The online version of this article (10.1186/s12863-018-0663-2) contains supplementary material, which is available to authorized users.
- Published
- 2018