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Gene functional genetic variation correlated to LDL-C (Low-density Lipoproteincholesterol) level and related application thereof

A gene and level technology, applied in the functional genetic variation of genes related to LDL-C level and related application fields, can solve the problems of lack of research data in Asian populations

Active Publication Date: 2017-12-22
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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  • Gene functional genetic variation correlated to LDL-C (Low-density Lipoproteincholesterol) level and related application thereof
  • Gene functional genetic variation correlated to LDL-C (Low-density Lipoproteincholesterol) level and related application thereof
  • Gene functional genetic variation correlated to LDL-C (Low-density Lipoproteincholesterol) level and related application thereof

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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 invention provides gene functional genetic variation correlated to LDL-C (Low-density Lipoproteincholesterol) level and related application thereof. Specifically, the invention provides application of reagent materials and / or instrument equipment for detecting the following protein amino acid sites and / or corresponding gene loci in samples from a to-be-tested individual in preparation of a detection system used for evaluating a blood lipid level and / or abnormal blood lipid onset risk. The protein amino acid sites include EVI5 gene rs117711462, APOB gene rs376825639 and / or PKD1L3 gene rs17358402 heritable variations causing EVI5 protein 354th amino acid coding change, APOB gene 3768th amino acid coding change and / or PKD1L3 gene 1572nd amino acid change. The to-be-tested individual with EVI5Arg354Cys and / or PKD1L3Arg1572His variation has high high-density lipoproteincholesterol level and / or high abnormal blood lipid onset risk. The to-be-tested individual with APOBIle3768Thr variation has low high-density lipoproteincholesterol level, low abnormal blood lipid onset risk and / or low coronary heart disease incidence risk.

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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IPC IPC(8): C12Q1/68G01N33/68
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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