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Functional genetic variation of genes related to ldl-c level and related applications

A genetic and horizontal technology, applied in the direction of microbial determination/testing, instruments, biochemical equipment and methods, etc., can solve the problems of lack of research data on Asian populations

Active Publication Date: 2020-02-07
FUWAI HOSPITAL CHINESE ACAD OF MEDICAL SCI & PEKING UNION MEDICAL COLLEGE +2
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Problems solved by technology

Genome-wide association studies have successfully identified multiple genetic loci associated with blood lipids, however, almost all of these loci were initially identified in populations of European ancestry and data from studies in Asian populations are lacking

Method used

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  • Functional genetic variation of genes related to ldl-c level and related applications
  • Functional genetic variation of genes related to ldl-c level and related applications
  • Functional genetic variation of genes related to ldl-c level and related applications

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Embodiment 1

[0030] The study separately detected and analyzed the correlation between genetic variants and low-density lipoprotein cholesterol (LDL-C). First, exon chip detection was performed on 47,532 subjects from 23 studies in the East Asian population. The research samples come from China Eye Study (CHES), China Health and Nutrition Survey (CHNS), Fangchenggang Male Health Examination Survey (FAMHES), Guizhou Bijie Type 2 Diabetes Study (GBTDS), Hong Kong University Special Research Program (HKU-TRS), Hubei 23 studies including Coronary Heart Disease Study (HuCAD) and Chinese Aging Population Nutrition and Health Survey (NHAPC). The exon microarray detection platform and genotype-phenotype analysis software used by 23 independent blood lipid level research institutes are shown in Table 1. All samples were combined for association analysis, excluding monomorphic sites, and finally 110,986 genetic variations were included in association analysis, and the statistical significance of th...

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Abstract

The present invention provides functional genetic variation of genes related to LDL-C levels and related applications; specifically, the present invention provides detection of the following protein amino acid sites and / or their corresponding gene sites in a sample from an individual to be tested The application of reagent materials and / or instruments and equipment in the preparation of a detection system for evaluating blood lipid levels, dyslipidemia and / or risk of coronary heart disease: EV15 gene rs117711462, APOB gene rs376825639 and / or PKD1L3 gene rs17358402 respectively cause EVI5 protein Amino acid 354, amino acid 3768 of APOB protein, and / or amino acid 1572 of PKD1L3 protein code change. Individuals with EVI5Arg354Cys and / or PKD1L3Arg1572His mutations have higher total cholesterol and / or low-density lipoprotein cholesterol levels and / or higher risk of dyslipidemia. Individuals with APOBIle3768Thr mutation have lower low-density lipoprotein cholesterol level, lower risk of dyslipidemia and / or lower risk of coronary heart disease.

Description

technical field [0001] The present invention relates to functional genetic variation of genes related to LDL-C levels and related applications, specifically, the present invention relates to reagent materials and / or for detecting the variation of EVI5Arg354Cys, APOBIle3768Thr, PKD1L3Arg1572His in samples from individuals to be tested The application of the apparatus in preparing a detection system for assessing blood lipid level, abnormal blood lipid and / or risk of coronary heart disease also relates to a detection system for evaluating blood lipid level, abnormal blood lipid and / or risk of coronary heart disease. Background technique [0002] A large number of research data show that dyslipidemia is an independent risk factor for coronary heart disease, myocardial infarction, sudden cardiac death and ischemic stroke. It causes hidden, gradual, progressive, systemic and organic damage to the body by accelerating systemic atherosclerosis. Studies have shown that for every 1%...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883G01N33/92G01N33/68
CPCG01N2800/324G01N2800/50C12Q2600/156C12Q1/6883G01N33/6893C12Q2600/158
Inventor 鲁向锋李珺邬堂春林旭顾东风
Owner FUWAI HOSPITAL CHINESE ACAD OF MEDICAL SCI & PEKING UNION MEDICAL COLLEGE
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