RGD Reference Report - Association between a C/T polymorphism in exon 33 of the thyroglobulin gene is associated with relapse of Graves' hyperthyroidism after antithyroid withdrawal in Taiwanese. - Rat Genome Database

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Association between a C/T polymorphism in exon 33 of the thyroglobulin gene is associated with relapse of Graves' hyperthyroidism after antithyroid withdrawal in Taiwanese.

Authors: Hsiao, JY  Hsieh, MC  Tien, KJ  Hsu, SC  Shin, SJ  Lin, SR 
Citation: Hsiao JY, etal., J Clin Endocrinol Metab. 2007 Aug;92(8):3197-201. Epub 2007 Jun 5.
RGD ID: 8548644
Pubmed: PMID:17550957   (View Abstract at PubMed)
DOI: DOI:10.1210/jc.2007-0675   (Journal Full-text)

CONTEXT: Graves' disease (GD) is an autoimmune disorder with genetic predisposition. The thyroglobulin (Tg) is a major autoantigen for GD. The human Tg gene polymorphism has specific features that make it important in GD. OBJECTIVE: This study investigated whether Tg single nucleotide polymorphisms (SNPs) relate to GD development in a Taiwanese population. DESIGN AND SETTING: This was a case-control association study. PATIENTS AND MAIN OUTCOME MEASURES: We enrolled 215 Taiwanese patients with GD and 141 controls from the Endocrine Clinic of Kaohsiung Medical University Chung-Ho Memorial Hospital. This study investigated the association between gene polymorphism and relapse of hyperthyroidism after medication was discontinued in three GD patient groups and a control group. We also compared clinical and laboratory data obtained from patients with the three different genotypes with the three different Tg SNPs (E10SNP158, E12SNP, and E33SNP). RESULTS: We found a significant increase in the T/T genotype of E33SNP compared with the control group (P < 0.001). We also found the E33SNP C/C genotype of the Tg gene was strongly associated with a subgroup of GD patients who were also characterized as having a higher relapse rate, significantly higher levels of persisting TSH-receptor antibody at the end of treatment, a higher frequency in smoking, and a higher incidence of ophthalmopathy (P < 0.05). CONCLUSIONS: This study showed that Taiwanese patients with the C/C genotype of E33SNP, smoking, ophthalmopathy, and positive TSH-receptor antibodies at the end of the treatment were more likely to have a relapse of Graves' hyperthyroidism after antithyroid medication is withdrawn.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Graves' disease treatmentIAGP 8548644DNA:SNP:exonRGD 
Graves' disease treatmentISOTG (Homo sapiens)8548644; 8548644DNA:SNP:exonRGD 

Objects Annotated

Genes (Rattus norvegicus)
Tg  (thyroglobulin)

Genes (Mus musculus)
Tg  (thyroglobulin)

Genes (Homo sapiens)
TG  (thyroglobulin)


Additional Information