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| Content Provider | Springer Nature Link |
|---|---|
| Author | Serebrova, V. N. Trifova, E. A. Gabidulina, T. V. Bukharina, I. Yu. Agarkova, T. A. Evtushenko, I. D. Maksimova, N. R. Stepav, V. A. |
| Copyright Year | 2016 |
| Abstract | Regulatory single nucleotide polymorphisms (rSNPs) are the least-studied group of SNP; however, they play an essential role in the development of human pathology by altering the level of candidate genes expression. In this work, we analyzed 29 rSNPs in 17 new candidate genes associated with preeclampsia (PE) according to the analysis of the transcriptome in placental tissue. Three ethnic groups have been studied (Yakut, Russian, and Buryat). We have detected significant associations of PE with eight rSNPs in six differentially expressed genes, i.e., rs10423795 in the LHB gene; rs3771787 in the HK2 gene; rs72959687 in the INHA gene; rs12678229, rs2227262, and rs3802252 in the NDRG1 gene; rs34845949 in the SASH1 gene; and rs66707428 in the PPP1R12C gene. We used a new approach to detecting genetic markers of multifactorial diseases in the case of PE based on a combination of genomic, transcriptomic, and bioinformatic approaches. This approach proved its efficiency and may be applied to detecting new potential genetic markers in genes involved in disease pathogenesis, which reduces missing heritability in multifactorial diseases. |
| Starting Page | 768 |
| Ending Page | 776 |
| Page Count | 9 |
| File Format | |
| ISSN | 00268933 |
| Journal | Molecular Biology |
| Volume Number | 50 |
| Issue Number | 5 |
| e-ISSN | 16083245 |
| Language | English |
| Publisher | Pleiades Publishing |
| Publisher Date | 2016-10-19 |
| Publisher Place | Moscow |
| Access Restriction | One Nation One Subscription (ONOS) |
| Subject Keyword | preeclampsia association study genetic markers Russian population regulatory single-nucleotide polymorphisms (rSNPs) placenta transcriptome Life Sciences Biochemistry Human Genetics |
| Content Type | Text |
| Resource Type | Article |
| Subject | Structural Biology Biophysics |
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