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Construction method and device for cerebral apoplexy multi-gene genetic risk comprehensive score (metaPRS) and application

A genetic risk and comprehensive scoring technology, which is applied in the construction, device and application field of stroke polygenic genetic risk comprehensive scoring, can solve the problem that polygenic genetic risk scoring is not suitable for East Asian populations, etc.

Active Publication Date: 2021-06-22
FUWAI HOSPITAL CHINESE ACAD OF MEDICAL SCI & PEKING UNION MEDICAL COLLEGE
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Problems solved by technology

Existing polygenic genetic risk scores for stroke based on European populations are not applicable to East Asian populations

Method used

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  • Construction method and device for cerebral apoplexy multi-gene genetic risk comprehensive score (metaPRS) and application
  • Construction method and device for cerebral apoplexy multi-gene genetic risk comprehensive score (metaPRS) and application
  • Construction method and device for cerebral apoplexy multi-gene genetic risk comprehensive score (metaPRS) and application

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Embodiment 1

[0066] Study Design Process and Study Population

[0067] For the research design process, see figure 1 shown.

[0068] In this study, a case-control designed training set was used to construct metaPRS, and it was validated and validated in a large prospective cohort "Prediction for Atherosclerotic Cardiovascular Disease Risk in China (China-PAR)". To evaluate its clinical value in stroke risk prediction.

[0069] The training set included 2872 stroke cases (2548 ischemic and 324 hemorrhagic strokes) and 2494 controls (Table 1). All cases had a valid diagnosis of stroke, confirmed by a neurologist based on medical records from computed tomography (CT) and / or magnetic resonance imaging (MRI). The control group consisted of individuals who participated in the community cardiovascular risk factor survey and who were stroke-free as determined by medical history, clinical examination, and standard questionnaires.

[0070] Table 1. Crowd characteristics of the training set

[0...

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Abstract

The invention provides a construction method and device for a cerebral apoplexy multi-gene genetic risk comprehensive score (metaPRS) and the application thereof. The construction method of the cerebral apoplexy multi-gene genetic risk comprehensive score (metaPRS) comprises the following steps: screening a set of SNP (Single Nucleotide Polymorphism) related to cerebral apoplexy or cerebral apoplexy 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; the weight of the subphenotype PRS is converted into the weight of the SNP level; constructing a comprehensive score metaPRS of the multi-gene genetic risk of the cerebral apoplexy; and evaluating the effect of metaPRS on cerebral apoplexy risk prediction and layering. The method is of great significance to assessment of cerebral apoplexy onset risk.

Description

technical field [0001] The invention relates to a method and device for constructing a stroke polygenic genetic risk comprehensive score (metaPRS) and its application. Background technique [0002] Stroke death is one of the major health threats worldwide. It is estimated that the global lifetime risk of stroke in adults over 25 years old is about 25%, with the East Asian population having the highest risk of 39%. Stroke is the leading cause of death in China, with 2.07 million stroke deaths in 2017. Therefore, identifying high-risk groups as early as possible, and implementing healthy lifestyle management and drug intervention for major risk factors (such as hypertension, diabetes, dyslipidemia, etc.) are of great significance for the primary prevention of stroke in China and the world. [0003] Stroke is a complex disease caused by both genetic and environmental factors. Genome-wide association studies (GWAS) have identified at least 42 genetic susceptibility genes asso...

Claims

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Application Information

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IPC IPC(8): G16B40/00G16B20/20G16H50/30
CPCG16B40/00G16B20/20G16H50/30
Inventor 鲁向锋顾东风邢小龙黄建凤李建新
Owner FUWAI HOSPITAL CHINESE ACAD OF MEDICAL SCI & PEKING UNION MEDICAL COLLEGE
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