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Tag single nucleotide polymorphism at 12# chromosome susceptible area related to coronary heart disease, and haplotype and application of tag single nucleotide polymorphism

A single nucleotide polymorphism, single nucleotide technology, applied in recombinant DNA technology, microbial determination/inspection, DNA/RNA fragments, etc., can solve the problems of lack of identification methods and little understanding of the exact genetic molecular mechanism.

Active Publication Date: 2014-12-24
FUWAI HOSPITAL OF CARDIOVASCULAR DESEASE CHINESE ACAD OF MEDICAL SCI
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  • Abstract
  • Description
  • 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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  • Tag single nucleotide polymorphism at 12# chromosome susceptible area related to coronary heart disease, and haplotype and application of tag single nucleotide polymorphism
  • Tag single nucleotide polymorphism at 12# chromosome susceptible area related to coronary heart disease, and haplotype and application of tag single nucleotide polymorphism
  • Tag single nucleotide polymorphism at 12# chromosome susceptible area related to coronary heart disease, and haplotype and application of tag single nucleotide polymorphism

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0039] Example 1 Selection and detection of chr12q21 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 by ...

Embodiment 2

[0070] Example 2 Detection of chr12q21 gene tag SNPs

[0071] 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.

[0072] 1. Case-control sample selection criteria

[0073] 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:

[0074]

[0075] 2. Detection method

[0076] The repeated detection and verification of this embodiment is to use FludigmEP1 TM GENETIC ANALYSIS system, the system is a high-throughput genotyping system developed by American Chip Fludigm Company, which consists of integrated fluid pipeline ...

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Abstract

The invention relates to a tag single nucleotide polymorphism at a 12# chromosome susceptible area related to a coronary heart disease and a haplotype and application of the tag single nucleotide polymorphism. The tag single nucleotide polymorphism is rs1401982, rs2681472, rs2681492, rs2681485, rs11105354, rs12579302, rs17249754, rs11105364, rs11105368, rs7136259 and rs11105378 locus in a closely linked area on a chromosome 12q21 adjacent to an ATP2B1 gene region. The mononucleotides of the haplotype on the locus above are A, A, T, A, A, A, G, T, G, C, C; G, G, C, G, G, A, G, C, T, T; or G, A, T, G, A, A, A, G, T, G, T, C respectively. The tag single nucleotide polymorphism and haplotype provided by the invention have an important application prospect in the prevention and / or diagnosis of the coronary heart disease.

Description

technical field [0001] The present invention relates to the susceptibility region of chromosome 12 associated with coronary heart disease, a tag single nucleotide polymorphism site and its composition haplotype and its application, in particular to a gene in a closely linked region adjacent to the ATP2B1 gene region on chromosome 12q21 A series of regional label single nucleotide polymorphism sites, the haplotype composed of the single nucleotide polymorphism sites and its detection method, and the application in detecting the risk of coronary heart disease in a 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 exp...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12N15/11C12Q1/68
Inventor 顾东风黄建凤李宏帆王来元陈恕凤
Owner FUWAI HOSPITAL OF CARDIOVASCULAR DESEASE CHINESE ACAD OF MEDICAL SCI
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