Natural History and Risk Factors of TAO

Natural History and Genetic Risk Factors of Thyroid Associated Ophthalmopathy (TAO)

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.

Inclusion Criteria:

1. Patients of Grave's disease with the history of more than 1 years
2. Informed consent signed by a patient or legal guardian, or having the ability to comply with study assessments for the full duration of the study

Exclusion Criteria:

1. Pregnancy (positive test) or lactation
2. Participating in another simultaneous medical investigation or clinical trial within 3 months
3. Having received cellular therapy
4. With a history of psychotropic drugs abuse
5. With a history of mental disorder
6. With a history of malignant tumor
7. Any medical or social condition that in the judgment of the investigator would interfere with or serve as a contraindication to adherence to the study protocol or ability to give informed consent