Common and Unique Susceptibility Loci in Graves and Hashimoto Diseases: Results of Whole-Genome Screening in a Data Set of 102 Multiplex Families

Tomer, Yaron; Ban, Yoshiyuki; Concepcion, Erlinda; Barbesino, Giuseppe; Villanueva, Ronald; Greenberg, David A.; Davies, Terry F.

doi:10.1086/378588

Cited by 209 publications

(198 citation statements)

References 60 publications

Supporting

Mentioning

188

Contrasting

Unclassified

Order By: Relevance

“…Both disorders are common with a prevalence in the United States of approximately 1%. 22,23 While the etiology is unknown, AITDs are considered complex diseases, caused by an interaction between susceptibility genes 24,25 and non-genetic factors. Among the environmental factors implicated in the etiology of AITD are hepatitis C infection 26 and IFN␣ therapy.…”

Section: Autoimmune Interferon Induced Thyroiditismentioning

confidence: 99%

“…The hallmarks of GD are the presence of clinical hyperthyroidism with positive TSHR antibodies and/or diffusely increased radioactive iodine intake on thyroid scan. 40 Because HT and GD are believed to have shared immunogenetic etiology 24 it is not surprising that treatment with IFN␣ can also result in the development of GD. 13,30 A retrospective review of 321 patients with hepatitis B or C treated with IFN␣ by Wong et al, found 10 patients who developed thyrotoxicosis characterized by a completely suppressed TSH.…”

Section: Autoimmune Interferon Induced Thyroiditismentioning

confidence: 99%

See 1 more Smart Citation

The clinical and physiological spectrum of interferon‐alpha induced thyroiditis

et al. 2006

Self Cite

View full text Add to dashboard Cite

Interferon-alpha (IFN␣) is a major treatment modality for several malignant and nonmalignant diseases, especially hepatitis C. Prospective studies have shown that up to 15% of patients with hepatitis C receiving IFN␣ develop clinical thyroid disease, and up to 40% were reported to develop thyroid antibodies. Some of these complications may result in discontinuation of interferon therapy. Thus, interferon induced thyroiditis (IIT) is a major clinical problem for patients receiving interferon therapy. IIT can be classified as autoimmune type and non-autoimmune type. I nterferons were discovered in the 1950Јs and were immediately recognized for their ability to render cells resistant to virus infection. 1 Interferons have been classified into two major groups, type I interferons and type II interferons, based on their capacity to bind to common receptor types. Type I interferons bind to a type I interferon receptor and include interferon-␣, interferon-␤, interferon-, and interferon-. 2 Type II interferons bind to a distinct type II receptor and include interferon-␥. 2 In addition to their antiviral properties, interferons have immunomodulatory, antiangiogenic, antiproliferative and antitumor activity, and act as important regulators of growth and differentiation. 3 Interferons work by directly binding to either type I or type II receptors. The cytoplasmic domains of the transmembrane glycoproteins are associated with members of the JAK family of kinases. They activate various signaling pathways, including the JAK-STAT pathway, the Crk-pathway, the IRS signaling pathway, and the MAP kinase pathway, which leads to signal transduction and subsequent activation or repression of specific genes. 3,4 More than twenty interferon-induced proteins have been identified. 5 Interferon-alpha (IFN␣) was the first cytokine to be reproduced by recombinant DNA technology and has emerged as a major therapeutic modality for several malignant and nonmalignant diseases. Among the diseases treated by IFN␣ are melanoma, renal cell carcinoma, hairy cell leukemia, Kaposi's sarcoma, and hepatitis B and C. 5 However, the most common prescription for IFN␣

show abstract

Section: Autoimmune Interferon Induced Thyroiditismentioning

confidence: 99%

Section: Autoimmune Interferon Induced Thyroiditismentioning

confidence: 99%

The clinical and physiological spectrum of interferon‐alpha induced thyroiditis

et al. 2006

Self Cite

View full text Add to dashboard Cite

show abstract

“…Association studies using three common TSHR exonic and nonsynonymous SNPs (in the extracellular and intracellular domain of the receptor) were inconsistent (5,6,(8)(9)(10)(11)(12). However, in two linkage studies we described a GD-specific chromosome 14 locus of *25 cM, designated GD-1 (4,7,13), in the center of which was the TSHR (between markers D14S258 and D14S1054). GD-1 was consistently linked with GD and not with Hashimoto's thyroiditis (HT) (7).…”

Section: Introductionmentioning

confidence: 95%

“…However, in two linkage studies we described a GD-specific chromosome 14 locus of *25 cM, designated GD-1 (4,7,13), in the center of which was the TSHR (between markers D14S258 and D14S1054). GD-1 was consistently linked with GD and not with Hashimoto's thyroiditis (HT) (7).…”

Section: Introductionmentioning

confidence: 99%

Influence of the TSH Receptor Gene on Susceptibility to Graves' Disease and Graves' Ophthalmopathy

Yin

Latif²,

Bahn

et al. 2008

Thyroid

Self Cite

View full text Add to dashboard Cite

“…21,22 In addition, association analysis using microsatellite markers confirmed evidence for the presence of susceptibility genes in or near 5q23-q33 in a Japanese cohort. 5 This could suggest that these factors are only contributing to GD in the Asian population and not to disease susceptibility in Caucasian populations.…”

Section: Discussionmentioning

confidence: 66%

Polymorphisms in the interleukin 3 gene show strong association with susceptibility to Graves’ disease in Chinese population

et al. 2009

View full text Add to dashboard Cite

Graves' disease (GD) is a common organ-specific autoimmune disorder, which is multifactorial and develops in genetically susceptible individuals. We had earlier mapped a susceptibility locus for GD to chromosome 5q31-33 in a linkage study. Here we used tag single-nucleotide polymorphisms (SNPs) to search for genetic variants associated with GD, and examined 19 functional candidate genes in this chromosomal region. We identified 192 polymorphisms by re-sequencing the candidate genes, and selected 51 tagSNPs to genotype in a case-control collection of 1118 south Han Chinese subjects (428 cases and 690 controls). Initial analysis suggested that a non-synonymous SNP rs40401 (P27S) of interleukin 3 (IL3) was associated with GD, and further fine-mapping showed that rs40401, or its perfect proxy SNP rs31480 in the 5 0 flanking region of IL3, fully accounted for the association signal at this locus. We replicated significant association of rs40401 with GD in an independent sample collection of 839 north Han Chinese subjects. A combined analysis revealed strong validation of this association (odds ratio (OR common ) ¼ 1.63, combined P (P comb ) ¼ 4 Â 10 À6 in the Recessive disease model). This study provides convincing evidence that the IL3 gene is a susceptibility locus for GD in the Chinese population.

show abstract

Common and Unique Susceptibility Loci in Graves and Hashimoto Diseases: Results of Whole-Genome Screening in a Data Set of 102 Multiplex Families

Cited by 209 publications

References 60 publications

The clinical and physiological spectrum of interferon‐alpha induced thyroiditis

The clinical and physiological spectrum of interferon‐alpha induced thyroiditis

Influence of the TSH Receptor Gene on Susceptibility to Graves' Disease and Graves' Ophthalmopathy

Polymorphisms in the interleukin 3 gene show strong association with susceptibility to Graves’ disease in Chinese population

Contact Info

Product

Resources

About