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Coronary heart disease associated sixth chromosome susceptible region tagging single nucleotide polymorphism sites, haplotypes thereof, and applications of sites and haplotypes

A single nucleotide polymorphism and single nucleotide technology, applied in the direction of recombinant DNA technology, microbial measurement/testing, DNA/RNA fragments, etc., can solve the problems of lack of identification methods and little knowledge of exact genetic molecular mechanisms

Active Publication Date: 2014-07-23
FUWAI HOSPITAL OF CARDIOVASCULAR DESEASE CHINESE ACAD OF MEDICAL SCI +1
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  • Claims
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Problems solved by technology

From basic to clinical, people have done a lot of research on this, and accumulated a lot of knowledge on the risk factors of coronary heart disease and the pathophysiology of coronary heart disease, but the exact genetic molecular mechanism of coronary heart disease and myocardial infarction is not known Very few, there has been a lack of comprehensive, systematic and effective identification methods for how to identify genetic susceptibility genes and the genetic susceptibility of subjects to coronary heart disease

Method used

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  • Coronary heart disease associated sixth chromosome susceptible region tagging single nucleotide polymorphism sites, haplotypes thereof, and applications of sites and haplotypes
  • Coronary heart disease associated sixth chromosome susceptible region tagging single nucleotide polymorphism sites, haplotypes thereof, and applications of sites and haplotypes
  • Coronary heart disease associated sixth chromosome susceptible region tagging single nucleotide polymorphism sites, haplotypes thereof, and applications of sites and haplotypes

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0039] Example 1 Selection and detection of chr6p21.32 gene tag SNPs

[0040] 1. Case-control sample selection criteria

[0041] Cases of coronary heart disease include patients with myocardial infarction and patients with angina pectoris. The diagnostic criteria for the inclusion of myocardial infarction cases are the diagnostic criteria for acute myocardial infarction (according to the diagnostic criteria of WHO in 1979): that is, typical chest pain symptoms lasting for more than 30 minutes; ST-segment elevation in two consecutive leads of electrocardiogram (limb leads 0.1mv, chest lead 0.2mv) with a series of dynamic changes; the concentration of serum markers of myocardial necrosis increased, such as the increase of troponin (TNT / TNI), the increase of myocardial isozyme (CK-MB) was greater than the upper limit of normal value 2 times. The inclusion diagnostic criteria for angina pectoris was that at least one major branch of the coronary artery was found to be narrowed b...

Embodiment 2

[0065] Example 2 Detection of chr6p21.32 gene tag SNPs

[0066] In this embodiment, the representative loci of the corresponding chromosomal regions selected in the first embodiment were further detected in 15460 patients with coronary heart disease and 11472 control samples, and at the same time, it was used as a verification for implementing a selected tag SNPs.

[0067] 1. Case-control sample selection criteria

[0068] The selection criteria for case-control samples were the same as in Example 1. The research population is repeated testing and verification samples (including 15,460 patients with coronary heart disease and 11,472 controls). The basic characteristics are as follows:

[0069]

[0070] 2. Detection method

[0071] The repeated detection verification of the present embodiment is to use FludigmEP1 TM GENETIC ANALYSIS system, the system is a high-throughput genotyping system developed by American chip company Fludigm, which consists of an integrated fluid p...

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Abstract

The invention relates to coronary heart disease associated sixth chromosome susceptible region tagging single nucleotide polymorphism sites, haplotypes thereof, and applications of the sites and the haplotypes. The tagging single nucleotide polymorphism sites comprise sites of rs9268402, rs442406, rs9268473, rs3817973, rs2076533 and rs2076529 in a segment of a closely linked region in C6orf10-BTNL2 genes on a chromosome 6p21.32. The single nucleotides of the haplotype at the sites of rs9268402, rs442406, rs9268473, rs3817973, rs2076533 and rs2076529 are G, A, A, C, C and T respectively, A, G, G, T, T and C respectively, or A, A, A, C, C and T respectively. The tagging single nucleotide polymorphism sites and the haplotypes have important application prospects in the prevention and / or the diagnosis of the coronary heart disease.

Description

technical field [0001] The present invention relates to the susceptibility region label single nucleotide polymorphism site of No. 6 chromosome related to coronary heart disease and its composition haplotype and application, in particular to a tight segment between C6orf10-BTNL2 genes on chromosome 6p21.32 A series of regional label single nucleotide polymorphism sites in the linkage region, the haplotype composed of the single nucleotide polymorphism sites and its detection method, and its application in detecting the risk of coronary heart disease in the population . Background technique [0002] Atherosclerotic cardiovascular and cerebrovascular diseases have become a major health problem worldwide. According to the report of the World Health Organization (WHO) in 2004, the number of deaths caused by cardiovascular diseases, mainly coronary heart disease and stroke, is as high as 17.2 million every year in the world, accounting for one-third of all deaths. It is expecte...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12N15/11C12Q1/68
Inventor 顾东风鲁向锋黄建凤王来元李宏帆陈恕凤
Owner FUWAI HOSPITAL OF CARDIOVASCULAR DESEASE CHINESE ACAD OF MEDICAL SCI
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