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Is the risk of stroke destined? |
Professor Lu Xiangfeng (middle) is instructing students in scientific research
.
Photo courtesy of Fuwai Hospital, Chinese Academy of Medical Sciences
The first cause of death in our country, the sick population is getting younger, 70% of the patients have varying degrees of disability, and the second recurrence rate is as high as 40%.
Stroke is like a "demon" greedily "sucking" on human health
.
How to screen out people at high risk of stroke in a timely and effective manner has become a topic of concern to the whole society
.
"Existing methods are mainly based on traditional stroke risk factors, and cannot effectively detect stroke high-risk groups before the risk factors appear
.
" Lu Xiangfeng, a professor at Fuwai Hospital of the Chinese Academy of Medical Sciences, told the Chinese Journal of Science that precise stroke prevention is urgent A more effective risk assessment model is needed
.
Based on this, Lu Xiangfeng and the team of Gu Dongfeng, an academician of the Chinese Academy of Sciences, established the first Chinese stroke polygenic genetic risk scoring model after years of research, and combined with traditional risk factor screening, it helps to accurately predict and analyze the risk of stroke.
Layer
.
Related research results were published in "Neurology"
.
Existing screening models have a certain lag
Existing screening models have a certain lag Stroke is also called "stroke"
.
According to the "China Cardiovascular Health and Disease Report 2019", the incidence of stroke in China is 246.
8 per 100,000, which is higher in men than women and significantly higher in rural areas than in urban areas
"Compared with the Western population, the incidence of stroke and the proportion of hemorrhagic stroke in the Chinese population is higher
.
" Lu Xiangfeng said
.
A systematic review of the prevalence of stroke in Chinese and Western populations confirmed Lu Xiangfeng's statement
.
The review shows that the incidence of stroke in the Chinese population is higher than that in the Western population (205-584/100,000 and 170-335/100,000), and the proportion of cerebral hemorrhage in the Chinese population is also significantly higher than that of the western population (33% vs 12%)
.
Previous scientific studies have pointed out that early identification of high-risk groups and advocating a healthy lifestyle are essential for early stroke prevention
.
During the interview, the reporter learned that at this stage, China mainly screens high-risk groups by screening traditional risk factors for stroke, such as hypertension, smoking, diabetes, atrial fibrillation, dyslipidemia, and asymptomatic carotid stenosis
.
Based on these traditional risk factors, Chinese scientists have established a stroke risk assessment tool—China-PAR risk prediction model based on a prospective follow-up cohort
.
The model integrates 4 latest prospective cohort follow-up data of the Chinese population, with a total sample of more than 120,000 people.
By inputting data including age, systolic blood pressure, total cholesterol, smoking, diabetes, waist circumference, etc.
Moreover, it is worth mentioning that, compared with the United States pooled cohort equation, the China-PAR model predicts the 10-year stroke risk of the Chinese population more accurately, and provides a practical assessment tool for the primary prevention of stroke in China
.
However, the disadvantage is that the high-risk population screened by this model method has a certain lag
.
Genetic risk prediction can remain unchanged for life
Genetic risk prediction can remain unchanged for life "In fact, in addition to risk factors, the occurrence of stroke is also closely related to genetic factors
.
Genetic testing can accurately depict an individual's life-long health profile, and then predict the pathogenesis of the disease
.
At present, there are relatively few studies on the prediction of stroke genetic risk in the world.
Almost the existing stroke genetic scores are based on European populations.
Due to the significant differences in environmental risk factors and genetic backgrounds of different ethnic groups, these genetic scores are not relevant to the Chinese population.
Not applicable
.
To this end, the research team integrated large-scale genomics data from East Asian populations of stroke and its main risk factors, and used more than 500 genetic variants to construct a stroke polygenic genetic risk score, and then used 40,000 people to follow up for an average of 9 years.
The national cohort of natural populations to evaluate its predictive value for stroke
.
The results show that the genetic risk can effectively predict the risk of stroke and delineate the individual's risk trajectory
.
The risk of stroke in individuals with high genetic risk is twice that of individuals with low genetic risk.
The lifetime risk of stroke (at the age of 80) in the two groups reached 25.
"If the risk of stroke is reduced by controlling the main risk factors, individuals with high genetic risk will benefit more
.
" Lu Xiangfeng, for example, said that people with high genetic risk also have ideal blood pressure levels (systolic blood pressure <120mmHg and diastolic blood pressure <80mmHg).
For individuals, the lifetime risk of stroke is only 14.
9%, which is close to the level of individuals with low genetic risk
.
This suggests that people at high risk of stroke can significantly reduce the risk of stroke through a healthy lifestyle or drug intervention, and even offset the high congenital genetic risk
.
“Therefore, individuals at high risk of stroke should be screened as early as possible through their genetic background and individualized guidance and intervention should be given
.
” Gu Dongfeng suggested that people at high risk of stroke must strictly control blood pressure, blood lipids and blood sugar levels under the guidance of clinicians, at least every year A physical examination and assessment of the risk of stroke
.
Compared with traditional clinical risk factors, the potential advantage of genetic scoring is that risk assessment can be carried out early in life and remains unchanged throughout life
.
Therefore, the application of genetic scoring to early stroke risk prediction, and guiding high-risk groups to develop individualized lifestyle or drug therapy interventions is of great value for primary stroke prevention and precision intervention
.
Looking forward to establishing a comprehensive risk prediction model
Looking forward to establishing a comprehensive risk prediction model No research will be smooth sailing
.
In this study, the researchers told reporters that the biggest difficulty they encountered was optimizing the predictive effect of stroke genetic score
.
Because the predictive effect of genetic scoring is highly dependent on genome-wide association study (GWAS) data that matches race, and there is currently a lack of large-scale GWAS studies on stroke in China, it is impossible to obtain the most suitable genetic variation effect value for the Chinese population.
The score constructed by the population GWAS effect value has a poor predictive effect on the risk of stroke in the Chinese population
.
"So, by integrating large-scale stroke GWAS data, including the Japanese Biobank, we have improved the prediction effect of the score
.
" One of the authors of the paper and associate professor of Fuwai Hospital, Chinese Academy of Medical Sciences, Liu Fangchao, told the Chinese Journal of Science.
In order to further optimize the predictive effect of stroke genetic scores, they also tried a variety of statistical analysis methods including machine learning to construct a series of scores, and finally determined to use meta-analysis methods to integrate stroke and related phenotype genetic information to construct a The comprehensive genetic risk score is equivalent to the prediction effect of the genome-wide genetic risk score of 3.
2 million genetic variants constructed by the British biobank population
.
During the review, the reviewer has proposed "Compared with the traditional model, the advantages of genetic risk score is what" this issue
.
In this regard, the researchers deliberately evaluated the improvement of the model risk prediction and stratification after adding the genetic score to the traditional prediction model China-PAR, and confirmed that the potential advantage of the genetic score is that it can be evaluated early in life and remains unchanged throughout the life.
Especially in the early prevention and treatment of stroke, it has great potential
.
"We are advancing the development of multi-gene risk assessment kits, hoping to be applied to the individualized prevention and treatment of cardiovascular and cerebrovascular diseases
.
We will also carry out precise intervention studies on cardiovascular and cerebrovascular diseases based on genetic characteristics, assessing lifestyle, dietary and nutritional interventions, and The health benefits brought by antihypertensive and lipid-lowering drug interventions have formed an individualized intervention plan for cardiovascular and cerebrovascular diseases based on polygenic risks and environmental factors to achieve precise prevention
.
" Lu Xiangfeng said
.
(Source: Zhang Siwei, China Science News)
Related paper information: https://doi.
org/10.
1212/WNL.
0000000000012263
org/10.
1212/WNL.
0000000000012263 https://doi.
org/10.
1212/WNL.
0000000000012263