Genetic polymorphism of CYP1A1 and CYP2D6 in populations of Buryats, Teleuts and Russians of Eastern Siberia
Bibliographic record
Abstract
The study of the gene polymorphism of the system of biotransformation of xenobiotics is an important area of modern medical and genetic research. The aim of this work is to study the frequency of the alleles of the CYP1A1 (A2455G (*2C), rs1048943), CYP2D6 (A2549del (*3), rs35742686); G1846A (*4), rs3892097) genes of Teleuts (n = 115), Eastern Buryats (n = 132), Western Buryats (n = 280), their Métis (n = 56), and Russians of East Siberia (n = 122). Genotyping was performed using real-time PCR with competitive TaqMan allele-specific probes. The frequency of the CYP1A1*2C (2455G) allele was 28.8 % in the Eastern Buryat, 34.6 % in the Western Buryat, 16.7 % in the Teleut, and 31.3 % in the Métis cohort. The frequency of CYP1A1*2C (2455G) in the Russians of Eastern Siberia (4.1 %) corresponds to the frequency range found in European populations. A high-frequency occurrence of CYP1A1*2C (2455G) among Buryats and Teleuts may be indicative of a higher population-wide risk of diseases influenced by technogenic pollutants – substrates of CYP1A1. The CYP2D6*3 (2549del) allele was not detected in cohorts of indigenous populations, among Russians it was 0.4 %, and it was 2.7 % among Métis. The frequency of CYP2D6*4 (1846A) in Eastern and Western Buryats was 5.3 % and 4.3 %, respectively, for Teleuts it was 7.4 %. It was significantly higher in the Russian population (12 %), and among Métis (9.8 %). The obtained data makes it possible to predict a reduced risk of side effects of drugs and cancer associated with CYP2D6*3 (2549del) and CYP2D6*4 (1846A) in the Buryat and Teleut populations. However, metisation introduces new polymorphic variants into indigenous populations, shifts gene frequencies and changes the degree of risks.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".