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The aim of this study is to complete the identification of genetic factors predisposing to thyroid associated ophthalmopathy (TAO) by constituting a cohort of 400 Grave's patients with or without ocular signs.
Graves' disease (GD) is a common autoimmune condition, and its ocular condition is known as thyroid-associated ophthalmopathy (TAO). There is considerable evidence that both genetic and environmental factors are involved in the development of TAO. We conduct a study of 400 Grave's patients, with or without TAO, and obtain the following data: genetic tests, ocular imaging and life style information. Genetic tests are obtained by collection of blood samples for DNA extraction, whole-genome sequencing, and identification of cellular biomarkers, using transcriptomics and mass cytometry. Ocular imaging data are collected from Orbit MRI examination. Life style data are collected using a standardized questionnaire.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Grave's disease with TAO | Patients with Grave's disease and TAO |
| |
| Grave's disease without TAO | Patients with Grave's disease but without TAO |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| DNA extraction and genetic characterization | Genetic | Collection of blood samples for DNA extraction and genetic characterization using whole-genome sequencing, and for identification of cellular biomarkers using transcriptomics and mass cytometry. |
| Measure | Description | Time Frame |
|---|---|---|
| Genetic risk factors of TAO predisposition | Genetic risk factors of TAO are identified by pathogenic gene screening using the whole-genome sequencing of peripheral blood cells. | 1 year |
| Measure | Description | Time Frame |
|---|---|---|
| Cellular biomarkers for risk of TAO | Cellular biomarkers for risk of TAO are identified by transcriptomics and mass cytometry | 1 year |
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Inclusion Criteria:
Exclusion Criteria:
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TAO Patients:
Patients who are diagnosed as Grave's disease and TAO are enrolled into the study from 2 clinical centers. This diagnosis is made according to classical criteria of TAO, including thyroid function testing, ocular examination and orbit MRI examination.
Control:
Patients who are diagnosed as Grave's disease but without ocular signs are enrolled into the study from 2 clinical centers. This diagnosis of Grave's disease is made according to classical criteria including thyroid function testing. Ocular signs are excluded by routine ocular examination and orbit MRI examination.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Yingfeng Zheng | Contact | +8613922286455 | zhyfeng@mail.sysu.edu.cn |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Zhognshan Ophthalmic Center, Sun Yat-sen University | Recruiting | Guangzhou | China |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 39365735 | Derived | Liu Z, Ke SR, Shi ZX, Zhou M, Sun L, Sun QH, Xiao B, Wang DL, Huang YJ, Lin JS, Wang HS, Zhang QK, Pan CN, Liang XW, Chen RX, Mao Z, Lin XC. Dynamic transition of Tregs to cytotoxic phenotype amid systemic inflammation in Graves' ophthalmopathy. JCI Insight. 2024 Nov 22;9(22):e181488. doi: 10.1172/jci.insight.181488. |
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| ID | Term |
|---|---|
| D049970 | Graves Ophthalmopathy |
| ID | Term |
|---|---|
| D015785 | Eye Diseases, Hereditary |
| D005128 | Eye Diseases |
| D006111 | Graves Disease |
| D005094 | Exophthalmos |
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| Orbit MRI examination | Device | Orbit MRI examination is performed to confirm the diagnosis of TAO |
|
| Collection of life style data | Other | Collection of life style data using quality of life questionnaire |
|
| the First People's Hospital of Zhaoqing | Recruiting | Zhaoqing | China |
|
| D009916 |
| Orbital Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D006042 | Goiter |
| D013959 | Thyroid Diseases |
| D004700 | Endocrine System Diseases |
| D006980 | Hyperthyroidism |
| D001327 | Autoimmune Diseases |
| D007154 | Immune System Diseases |