Distribution of polymorphic variants of genes for xenobiotic biotransformation GSTM1, GSTT1 and GSTP1 in populations of native inhabitants and Russians of Eastern Siberia
Bibliographic record
Abstract
Актуальность. Изучение полиморфизма генов системы биотрансформации ксенобиотиков, ассоциированных с рядом многофакторных заболеваний - важное направление современных медико-генетических исследований. Цель и задачи - выявить этнические особенности распределения полиморфных вариантов генов GSTM1, GSTT1 и GSTP1 среди бурят, телеутов и русских Восточной Сибири. Материалы и методы. Изучены выборки восточных (N=139) и западных (N=284) бурят, метисов западных бурят с русскими (N=47), телеутов (N=115) и русских Восточной Сибири (N=122). Выявление генотипов GSTM1 0/0 и GSTT1 0/0 проводилось методом мультиплексной полимеразной цепной реакции в режиме реального времени, генотипирование GSTP1 проводили в режиме реального времени с использованием TaqMan-зондов. Результаты. Встречаемость генотипа GSTM1 0/0 среди восточных и западных бурят составляет 37,7% и 57,7% соответственно (51,4% в суммарной выборке бурят), среди русских - 42,6%. Статистически значимо меньшая частота показана у телеутов - 17,4%. Частота GSTТ1 0/0 у восточных и западных бурят равна 40,8% и 27,6% соответственно, у русских статистически значимо меньше - 18%, у телеутов - 24,8%. Для метисов показаны промежуточные значения частот GSTM1 0/0 и GSTТ1 0/0. Аллель GSTP1 1405G встречается среди восточных и западных бурят с частотой 27,7% и 19,2% соответственно, у русских - 31,8%, телеутов - 24,8%. Различие русских с западными бурятами статистически значимо. Частота аллеля GSTP1 2285T среди восточных (4,9%), западных (1,8%) бурят и телеутов (2,2%) меньше, чем среди русских (8,3%). Отличие русских от западных бурят и телеутов, является статистически значимым. Выводы. В суммарной выборке бурят показаны повышенные частоты генотипов GSTM1 0/0 и GSTТ1 0/0, ассоциированых, по данным литературы, с некоторыми многофакторными заболеваниями по сравнению с телеутами и русскими. В обеих выборках бурят статистически значимо повышена частота комбинированного генотипа, приводящего к отсутствию активности ферментов. В то же время у телеутов частота индивидов с генотипической комбинацией GSTM1 +GSTТ1 +, ответственной за нормальную ферментативную активность, статистически значимо выше. Частоты аллелей 1405G и 2285T гена GSTP1 среди бурят и телеутов понижены по сравнению с русскими. Метисация способствует изменению частоты аллелей. Статистически значимые различия в частотах вариантов GSTM1, GSTТ1 и GSTP1 внутри бурятского этноса могут свидетельствовать о его генетической неоднородности. Relevance. The study of the gene polymorphism of the system biotransformation of xenobiotics, which are associated with a number of multifactorial diseases, is an important area of modern medical genetic research. The aim and tasks are to reveal ethnic features in the distribution of polymorphic variants of genes GSTM1, GSTT1 and GSTP1 among Buryats, Teleuts and Russians of Eastern Siberia. Materials and methods. The samples of Eastern (N=139) and Western (N=284) Buryats, métis Western Buryats with Russians (N=47), Teleuts (N=115) and Russians of East Siberia (N=122) are studied. Detection of GSTM1 0/0 and GSTT1 0/0 was carried out through multiplex real-time PCR. Genotyping of GSTP1 was performed using TaqMan real-time PCR. Results. The occurrence of GSTM1 0/0 among Eastern and Western Buryats is 37.7% and 57.7% respectively (51.4% for the total sample of Buryats), among Russians - 42.6%. Significantly lower frequency is shown in Teleuts-17.4%. The frequency of GSTT1 0/0 in Eastern and Western Buryats is 40.8% and 27.6% respectively. It is significantly lower in Russians - 18%, in Teleuts - 24.8%. Mestis shows intermediate frequencies of GSTM1 0/0 and GSTТ1 0/0. GSTP1 1405G is found among Eastern and Western Buryats with 27.7% and 19.2% frequency, respectively, in Russians - 31.8%, Teleuts - 24.8%. The difference of Russians with Western Buryats is statistically significant. The frequencies of GSTP1 2285T among Eastern (4.9%), Western (1.8%) Buryats and Teleuts (2.2%) are lower than frequency among Russians (8.3%). The difference between Russians and Western Buryats with Teleuts is statistically significant. Summary. There are increased frequencies of GSTM1 0/0 and GSTT1 0/0 in the total cohort of Buryats in comparison with Teleuts and Russians. According to the literature data, these genotypes are associated with multi-factorial diseases. In both samples of Buryats, there is a statistically significantly increased frequency of the combined genotype resulting in the absence of enzyme activity. At the same time, there is a statistically significantly increased frequency of individuals with a genotypic combination GSTM1 +GSTT1 + responsible for normal enzymatic activity in the sample of Teleuts. There are reduced frequencies of risk-alleles GSTP1 1405G and 2285T among Buryats and Teleuts in comparison with Russians. Metisation changes the frequency of risk alleles. Significant differences in the frequencies of GSTM1, GSTT1 and GSTP1 within the Buryat ethnic group may indicate its genetic heterogeneity.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| 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) | 0.001 | 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 source (direct Gemma or distilled Codex), 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".