ChiCTR2100053642
正在进行
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2021-11-26
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Thyroid associated orbitopathy
Mapping the Thyroid Associated Orbitopathy (TAO) Genes by Whole Genome Sequencing (WGS)
Mapping the Thyroid Associated Orbitopathy (TAO) Genes by Whole Genome Sequencing (WGS)
1. To document and update the clinical course and family history of the cohort of Thyroid Associated Orbitopathy (TAO) patients in Hong Kong. 2. To identify gene loci and variants that are associated with TAO by Whole Genome Sequencing (WGS) and family linkage analysis. 3. To study the expressions and functions of the newly found TAO genes. 4. To associate the phenotypic features of TAO patients with the newly identified TAO gene variants.
析因分组（即根据危险因素或暴露因素分组）
其它
N/A
N/A
Research Grants Council - General Research Fund 2021/22
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1000
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2022-01-01
2024-12-31
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All TAO patients were diagnosed by the endocrinologists and orbital surgeons experienced in thyroid diseases. Diagnosis of GD is based on history, complete physical/ophthalmic examination and laboratory tests (sensitive TSH, free T4, total T3 and anti-thyroglobulin antibody), diffuse goiter, and the presence of at least one of the following: positive TRAb tests, diffusely increased 131I uptake in the thyroid gland or exophthalmos. Diagnosis of TAO is made according to the EUGOGO criteria. TAO is defined as class 3 or higher in the American Thyroid Association mnemonic NOSPECS scheme: The NOSPECS classification system: Class 0: No signs or symptoms Class 1: Only signs (limited to upper lid retraction and stare, with or without lid lag) Class 2: Soft tissue involvement (edema and redness of conjunctivae and lids) Class 3: Proptosis Class 4: Extraocular muscle involvement (usually with diplopia) Class 5: Corneal involvement (primarily due to lagophthalmos) Class 6: Sight loss (due to optic nerve involvement) All control subjects are healthy without personal or family history of Graves disease, TAO, other eye diseases, syndromic diseases, or autoimmune disorders. They are matched for sex with cases and are over 60 years to reduce the number of controls who might develop thyroid eye diseases later in life as thyroid eye diseases are more likely to occur in young adults. Sensitive TSH (sTSH) (<0.35 mU/ml) and TPOAb (>5.61 U/ml) in control subjects are measured using chemiluminescence immunoassay (CLIA).；
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