Functional genetic variation of genes associated with triglyceride levels and related applications

A triglyceride level, gene technology, applied in the gene functional genetic variation related to triglyceride level and related application fields, can solve the problem of lack of Asian population research data and other problems

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 associated with triglyceride levels and related applications
  • Functional genetic variation of genes associated with triglyceride levels and related applications
  • Functional genetic variation of genes associated with triglyceride levels and related applications

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Experimental program
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Embodiment 1

[0028] The study detected and analyzed the correlation of genetic variants with TG-related triglycerides separately. 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 P-7 ...

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Abstract

The invention provides a gene functional genetic variation related to a triglyceride level and a related application. Specifically, the invention provides an application in a reagent material for detecting the following protein amino acid loci and / or genetic loci corresponding to the protein amino acid loci from a sample of a to-be-tested individual and / or an application of instrument equipment in preparation of a detection system for evaluating a blood lipid level, dyslipidemia and / or a coronary heart disease onset risk: genetic variations of an ACACB gene rs2075260 and / or a PPARA gene rs1800234 respectively cause code changes of a 2141st amino acid of an ACACB protein and / or a 227th amino acid of a PPARA protein. The to-be-tested individual having an ACACBVal2141Ile (rs2075260 is A, and amino acid is changed into Ile) variation has a relatively high triglyceride level and / or relatively high dyslipidemia and / or a coronary heart disease onset risk. The to-be-tested individual having a PPARAVal227Ala (rs1800234 is C, and the amino acid becomes Ala) has a relatively low triglyceride level and / or a relatively low dyslipidemia onset risk.

Description

technical field [0001] The present invention relates to functional genetic variation of genes related to triglyceride levels and related applications, specifically, the present invention relates to reagent materials and / or for detecting the variation of Val2141Ile and / or PPARAVal227Ala of ACACB 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, abnormal blood lipids and / or risk of coronary heart disease, and also relates to a detection system for assessing blood lipid levels, abnormal blood lipids 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. Stu...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883G01N33/68
CPCC12Q1/6883C12Q2600/156G01N33/68G01N2800/044G01N2800/324G01N2800/50
Inventor 鲁向锋林旭邬堂春顾东风黎怀星
Owner FUWAI HOSPITAL CHINESE ACAD OF MEDICAL SCI & PEKING UNION MEDICAL COLLEGE
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