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

A gene and level technology, applied in the functional genetic variation of genes related to HDL-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 +3
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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 HDL-C (High-density Lipoproteincholesterol) level and related application thereof
  • Gene functional genetic variation correlated to HDL-C (High-density Lipoproteincholesterol) level and related application thereof
  • Gene functional genetic variation correlated to HDL-C (High-density Lipoproteincholesterol) level and related application thereof

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Experimental program
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Embodiment 1

[0029] The study was divided into two stages to detect and analyze the relationship between genetic variation and HDL-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 the study was set at ...

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Abstract

The invention provides gene functional genetic variation correlated to HDL-C (High-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 CD36 gene rs148910227, APOA1 gene rs12718465 and / or CETP gene rs201790757 heritable variations causing CD36 protein 386th amino acid coding change, APOA1 gene 61st amino acid coding change and / or CETP gene 74th early amino acid termination. The to-be-tested individual with CD36 Arg386Trp and / or CETPTyr74* variation has high high-density lipoproteincholesterol level and / or low abnormal blood lipid onset risk; and the to-be-tested individual with APOA1 Ala61Thr variation has low high-density lipoproteincholesterol level and / or high abnormal blood lipid onset risk.

Description

technical field [0001] The present invention relates to functional genetic variation of genes related to HDL-C levels and related applications, specifically, the present invention relates to reagent materials and / or for detecting the variation of CD36Arg386Trp, APOA1Ala61Thr, CETPTyr74* in samples from individuals to be tested Or the application of instruments and equipment in the preparation of a detection system for assessing blood lipid levels and / or the risk of developing dyslipidemia, and also relates to a detection system for assessing blood lipid levels and / or the risk of developing dyslipidemia. 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% increase i...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68G01N33/68
CPCC12Q1/6883C12Q2600/156G01N33/68G01N2333/70596G01N2800/044G01N2800/324G01N2800/50
Inventor 鲁向锋邬堂春林旭顾东风莫曾南
Owner FUWAI HOSPITAL CHINESE ACAD OF MEDICAL SCI & PEKING UNION MEDICAL COLLEGE
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