Hormone-induced femoral head necrosis susceptibility gene panel and application thereof

A technology of femoral head necrosis and susceptibility genes, applied in genomics, microbial measurement/testing, instruments, etc., can solve problems such as no reports, improve clinical disease diagnosis rate, fast gene detection speed, and assist risk prediction and the effect of early diagnosis

Pending Publication Date: 2022-07-29
AIR FORCE MEDICAL CENT PLA
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, no large-scale genetic study using high-throughput sequencing on the susceptibility genes of steroid-induced necrosis of the femoral head has been reported, either in the general population or in the population with necrosis of the femoral head.

Method used

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Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0037] Example 1 Establishment of whole exome sequencing of control population and targeted capture sequencing database of case population

[0038] 1. Collection of biological samples

[0039] The source of oral swab DNA samples involved 60 patients with suspected steroid-induced necrosis of the femoral head in the northern Chinese population (case population), and 200 healthy people (control).

[0040] 2, the establishment of the database

[0041]These samples were sequenced using a panel of 39 genes listed above for steroid-related necrosis of the femoral head. Among these 39 genes, 6 genes (CYP3A4, ABCB1, NR3C1, ApoA1, ApoB, PAI-1) were derived from the genes reported to be related to susceptibility to steroid-induced necrosis of the femoral head (M Eric Gershwin, 2020). The other 33 genes were derived from the case-control study of 200 patients with steroid-induced necrosis of the femoral head and 200 healthy people using whole exome sequencing. These 33 genes are the ge...

Embodiment 2

[0045] Example 2 Diagnosis and clinical characteristics analysis of systemic lupus erythematosus

[0046] Systemic lupus erythematosus (SLE) is a multi-organ autoimmune inflammatory connective tissue disease that occurs mostly in young women. Early, mild and atypical cases are increasing. Systemic lupus erythematosus requires different doses and forms of glucocorticoids according to the condition. SLE patients using glucocorticoids have the highest risk of osteonecrosis, and international statistics show that 10%-30% of SLE patients have osteonecrosis. In this example, the clinical characteristics and susceptibility genes of a female patient with systemic lupus erythematosus taking glucocorticoids were analyzed.

[0047] 1. The basic situation of the case

[0048] The patient, Cao Moumou, is a 41-year-old female, married with children, from Henan. In September 2017, due to no obvious cause of pain in both lower limbs, accompanied by swelling, high fever, facial butterfly er...

Embodiment 3

[0055] Example 3 Detection of 1 patient with systemic lupus erythematosus by using steroid-induced femoral head necrosis susceptibility gene detection panel

[0056] 1. Sample collection and genetic testing:

[0057] Because systemic lupus erythematosus needs to choose different doses and forms of glucocorticoids according to the disease, the patient has obvious osteoporosis symptoms such as osteopenia after taking the hormone for one year. The inventor plans to use the next-generation sequencing gene detection for this patient. , to analyze the susceptibility genes of femoral head necrosis. The inventor collects the patient's buccal swab DNA samples, and uses the hormonal femoral head necrosis susceptibility gene detection panel of the present invention to perform targeted sequencing for the 39 exon regions of the steroid-induced femoral head necrosis susceptibility-related genes.

[0058] In the present invention, the Agilent exome capture kit is used to construct the libra...

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PUM

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Abstract

The invention discloses a susceptible gene panel for detecting steroid-induced femoral head necrosis and application of the susceptible gene panel. By utilizing the gene panel disclosed by the invention, potential pathogenic gene mutation of the steroid-induced femoral head necrosis can be screened out from massive genetic information through targeted high-throughput sequencing in combination with a bioinformatics analysis means, and the positive detection rate of mutation sites of the steroid-induced femoral head necrosis can be remarkably improved; the detection result of the gene panel is combined with the clinical phenotype of a patient, and etiological diagnosis of the steroid-induced femoral head necrosis can be effectively assisted, so that the clinical disease diagnosis rate is improved, a specific and effective intervention treatment scheme is implemented aiming at a specific disease condition, and the effects of early discovery, early intervention and prognosis improvement of the steroid-induced femoral head necrosis are achieved. The technology disclosed by the invention has the remarkable advantages of high gene detection speed, high disease diagnosis accuracy and the like.

Description

technical field [0001] The invention relates to the technical field of biomedicine, and relates to a panel for detecting hormone-induced femoral head necrosis susceptibility gene panel and its application. Background technique [0002] With the widespread clinical application of glucocorticoids (hormones for short), hormone-induced osteonecrosis of the femoral head (SONFH) has become the main cause of non-traumatic femoral head necrosis, but its exact pathogenesis The mechanism is not yet clear. At present, there is still no good clinical strategy to avoid the occurrence of steroid-induced necrosis of the femoral head, and there is no effective treatment to cure SONFH, and effective early intervention and prevention methods are still being explored. The main age of onset of steroid-induced necrosis of the femoral head is concentrated in the 30-50 years old, so it is particularly necessary to deeply explore the genetic susceptibility loci of steroid-induced necrosis of the f...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883G16B20/50
CPCC12Q1/6883G16B20/50C12Q2600/106C12Q2600/156
Inventor 任磊颜耀东王建平
Owner AIR FORCE MEDICAL CENT PLA
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