Method and device for constructing polygene genetic risk comprehensive score of coronary heart disease and application

A technology of genetic risk and comprehensive scoring, which is applied in the construction, device and application field of polygenic genetic risk comprehensive scoring of coronary heart disease, and can solve the problems such as the decline of prediction performance

Active Publication Date: 2021-10-15
FUWAI HOSPITAL CHINESE ACAD OF MEDICAL SCI & PEKING UNION MEDICAL COLLEGE
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Problems solved by technology

Studies have reported that the predictive power of these genetic scores is significantly reduced in other ethnic groups

Method used

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  • Method and device for constructing polygene genetic risk comprehensive score of coronary heart disease and application
  • Method and device for constructing polygene genetic risk comprehensive score of coronary heart disease and application
  • Method and device for constructing polygene genetic risk comprehensive score of coronary heart disease and application

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Embodiment 1

[0061] Study Design Process and Study Population

[0062] For the research design process, see figure 1 shown. A polygenic risk score (PRS) for CAD was developed in 2800 CAD patients and 2055 healthy controls (Table 1), and then validated in a large prospective cohort. The CAD cases in the training set are from Fuwai Hospital, Chinese Academy of Medical Sciences. The diagnosis of myocardial infarction (MI) strictly follows diagnostic criteria based on signs, symptoms, electrocardiogram, and cardiac enzyme activity. Combined with whether there is a history of myocardial infarction in the previous diagnosis, or the left main coronary artery is more than 50% stenosis, or at least one major epicardial vessel stenosis is >70%, it is diagnosed as coronary heart disease.

[0063] The validation cohort was derived from three subcohorts of the China-PAR study, including the China Cardiovascular Health Multicenter Collaborative Study (InterASIA), the Chinese Cardiovascular Epidemiolo...

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Abstract

The invention provides a method and device for constructing polygene genetic risk comprehensive score (metaPRS) of coronary heart disease and application. The method for constructing polygene genetic risk comprehensive score comprises the following steps: screening a set of SNP related to coronary heart disease and / or coronary heart disease related phenotypes; detecting the genotype of the to-be-detected SNP of the individual; respectively extracting dangerous alleles, effect values and P values of the detected SNP corresponding to a plurality of sub-phenotypes from a whole genome correlation research result, constructing a plurality of candidate sub-phenotype PRSs, and screening an optimal sub-phenotype PRS; determining the weight of each sub-phenotype PRS; cnverting the weight of the subphenotype PRS into the weight of the SNP level; and constructing a coronary heart disease polygene genetic risk comprehensive score metaPRS. The method is of great significance to coronary heart disease onset risk prediction and refined layering.

Description

technical field [0001] The invention relates to a method and device for constructing a polygenic genetic risk comprehensive score (metaPRS) for coronary heart disease and its application. Background technique [0002] The occurrence and development of cardiovascular disease (CVD) is affected by both genetic and environmental factors. [0003] In the primary prevention of cardiovascular diseases, risk prediction and assessment play a crucial role. Genetic factors, as stable and quantifiable life-long markers, have long been expected to be used in disease risk assessment to promote precise prevention of cardiovascular diseases. Over the past 10 years, genome-wide association studies have successfully identified hundreds of regions with significant associations with CHD and CHD-related phenotypes (lipid levels, blood pressure, type 2 diabetes, and BMI). Recently, the coronary heart disease polygenic risk score (PRS) that integrates multiple genetic variation information has b...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G16B20/40G16B30/00G16B40/00
CPCG16B20/40G16B30/00G16B40/00
Inventor 顾东风鲁向锋黄建凤王来元陈恕凤刘钟应
Owner FUWAI HOSPITAL CHINESE ACAD OF MEDICAL SCI & PEKING UNION MEDICAL COLLEGE
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