Susceptibility gene of hyperthyroidism disease and application thereof

A kind of use, chromosome technology, applied in the fields of molecular biology and medicine, can solve the problems such as the difficulty of identifying susceptibility genes for hyperthyroidism

Active Publication Date: 2012-12-19
RUIJIN HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIV SCHOOL OF MEDICINE
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0006] Due to the complexity of hyperthyroidism itself, the interaction between multiple genes, and the influence of environmental factors on the development of hyperthyroidism, it is very difficult to determine the susceptibility genes of hyperthyroidism

Method used

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  • Susceptibility gene of hyperthyroidism disease and application thereof
  • Susceptibility gene of hyperthyroidism disease and application thereof
  • Susceptibility gene of hyperthyroidism disease and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0127] Embodiment 1 sample acquisition and preparation

[0128] 1. In the SNP screening stage, the inventor selected 1536 hyperthyroid patients and 1516 normal controls.

[0129] 1,536 hyperthyroid patients were from Xuzhou, Jiangsu and Linyi, Shandong, and 1,516 normal controls were from the same region as the hyperthyroid patients, and they were gender-matched.

[0130] Of the 1536 patients whose disease course was more than one year, the level of autoantibodies to thyroid stimulating hormone receptor (TRab) was detected by ELISA. Samples with TRab levels ≥ 1.5 U / L are considered persistent TRab positive (pTRab+), samples with TRab levels < 1.5 U / L are considered persistent TRab negative (pTRab-),

[0131] The levels of thyroid stimulating hormone (TSH) and anti-thyroid microsomal antibody (TPOab) were tested in 1516 normal control samples, and any one of these indicators was within the normal reference range, in order to rule out autoimmune thyroid disease.

[0132] 2. In...

Embodiment 2

[0136] Example 2 Genotyping

[0137] 1. In the SNP screening stage, Illumina's human 660K chip was selected for genotyping in the genome-wide association study, and Illumina's BeadStudio 3.3 software was also used for data analysis.

[0138] 2. In the verification stage, among the 100 SNPs most relevant to hyperthyroidism screened out in the first stage, 96 SNPs were genotyped using the Fludigm EP1 platform, and 4 SNPs were genotyped using the Applied Biosystems Inc. (Applied Biosystems) 7900HT system for genotyping.

Embodiment 3

[0139] Embodiment 3 statistical analysis

[0140] 1. In the SNP screening stage, SmartPCA and PLINK software were first used to evaluate the population structure of the sample, and the analysis methods used were principal component analysis (PCA) and multi-dimensional scale analysis (MDS). And use PLINK software and R statistical package to analyze the distribution of the theoretical value and observed value of the P value of all SNPs points. After a series of quality control, finally 1468 patients, 1490 normal controls and 476121 SNPs were included in the statistical analysis, and the data were analyzed by case-control trend test using PLINK software.

[0141] 2. In the validation stage, the trend test method was applied to the validation data to analyze the relationship between 100 SNPs and diseases. Two-stage data meta-analysis was performed using the Cochran-Mantel-Hanezel analysis.

[0142]The logistic regression analysis method was used to determine the independence of...

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Abstract

The invention discloses a susceptibility gene of hyperthyroidism disease and an application thereof. Specifically, the invention discloses 20 single nucleotide polymorphisms (SNP) related to human hyperthyroidism disease susceptibility. The invention, for the first time, also confirms that the 20 single nucleotide polymorphisms are closely related to hyperthyroidism disease. These SNPs can be used to detect hyperthyroidism susceptibility, prepare a reagent and a kit for detecting susceptibility of hyperthyroidism disease and screen hyperthyroidism medicines and the like, thereby providing a new way for diagnosis, typing, prognosis and treatment of hyperthyroidism disease.

Description

technical field [0001] The present invention relates to the fields of molecular biology and medicine. More specifically, the present invention relates to 20 single nucleotide polymorphisms (Single Nucleotide Polymorphism, SNP) in the human genome and their correlation with hyperthyroidism. The present invention also relates to methods and kits for detecting these SNPs and susceptibility to hyperthyroidism. Background technique [0002] Hyperthyroidism (Hyperthyroidism, referred to as hyperthyroidism) refers to a clinical syndrome caused by excessive secretion of thyroid hormone (TH) due to various etiologies. Patients with hyperthyroidism are more complicated, among which diffuse goiter with hyperthyroidism (Graves' disease, GD) is the most common. GD is an organ-specific autoimmune disease with increased secretion of thyroid hormones. It is caused by the hyperfunction of the immune system of the body, which produces antibodies (immunoglobulins) against its own thyroid. Th...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12N15/11C12Q1/68
Inventor 宋怀东潘春明赵双霞
Owner RUIJIN HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIV SCHOOL OF MEDICINE
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