Genetics of autoimmune endocrine diseases

Bach, Jean‐François; Caillat‐Zucman, Sophie

doi:10.1007/bf00195976

Cited by 7 publications

(5 citation statements)

References 99 publications

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“…Many studies have focused on HLA associations with Graves' disease in an attempt to understand the immunogenetics of this common disorder. Twin studies demonstrate the relative contribution of HLA and non-HLA genes, showing that the concordance for Graves' disease in monozygotic twins is 30-50% and in HLA-matched siblings is only 7-10% (review by Bach & Caillat-Zucman, 1993). Whilst clearly higher than the frequency of Graves' disease in the general population, this discrepancy highlights the importance of genes outside the HLA complex in the control of genetic susceptibility to Graves' disease, and has been reinforced by family studies finding no linkage of HLA genes to Graves' disease (Roman et al, 1992).…”

Section: Discussionmentioning

confidence: 99%

“…Its aetiology fits a multifactorial pattern of inheritance in which clinical disease is expressed when the interplay of genetic and environmental factors confers a risk above a theoretical threshold. One part of the genetic component involves HLA genes which encode for proteins integral to the body's immune response (Bach & Caillat-Zucman, 1993). In particular, the inheritance of class II HLA alleles has been associated with an increased risk of developing Graves' disease.…”

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confidence: 99%

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Association of HLA‐DQA1*0501 with Graves’ disease in English Caucasian men and women

Barlow

Wheatcroft

Watson

et al. 1996

Clinical Endocrinology

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Association of HLA‐DQA1*0501 with Graves’ disease in English Caucasian men and women

Barlow

Wheatcroft

Watson

et al. 1996

Clinical Endocrinology

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“…In these patients, we were unable to find markers of other organ-specific or nonorgan-specific autoimmune diseases, ruling out that autoimmunity resulted from polyclonal B cell activation. It is also noteworthy that none of the three tested patients bore the classical DR3 susceptibility allele for GD (38).…”

Section: Discussionmentioning

confidence: 99%

Sequential Occurrence of Thyroid Autoantibodies and Graves’ Disease after Immune Restoration in Severely Immunocompromised Human Immunodeficiency Virus-1-Infected Patients

Jubault

Penfornis²,

Schillo³

et al. 2000

The Journal of Clinical Endocrinology & Metabolism

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We analyzed the kinetics of CD4 cells, human immunodeficiency virus (HIV) viral load, and autoantibodies in acquired immune deficiency syndrome patients with Graves' disease (GD) after immune restoration on highly active antiretroviral therapy (HAART; retrospective study).Five patients (median age, 41 yr) were diagnosed with GD after 20 (range, 14 -22) months on HAART on the basis of clinical and biological hyperthyroidism, diffuse hyperfixation of thyroid scan, and the presence of anti-TSH receptor (anti-TSHR) antibodies (Ab). GD was diagnosed several months after the plasma HIV ribonucleic acid load became undetectable, when the CD4 ϩ cell count had risen from 14 (range, 0 -62) to 340 (range, 163-460) ϫ 10 6 cells/L. Antithyroid peroxidase (anti-TPO) and anti-TSHRAb appeared 14 (range, 9 -18) and 14 (range, 11-20) months after starting HAART and 12 (range, 6 -15) and 11 (range, 9 -17) months after the increase in CD4 ϩ cells. In 3 patients, TPOAb preceded TSHRAb by 3-10 months. No other autoantibodies were detected. Thyroid antibodies were absent in a group of 55 HIV-1-positive patients with comparable response to HAART and no symptoms of hyperthyroidism (cross-sectional study).Thyroid-specific autoimmunity can occur upon immune restoration with HAART. Our observations suggest a relationship between thymus-dependent immune reconstitution after immunosuppression and autoimmunity and may provide insight into the pathophysiology of GD. (J Clin Endocrinol Metab 85: 4254 -4257, 2000)

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“…This is supported by: (1) the relative risk being below 5 (Table 3); (2) the risk of developing GD in an HLA class 11 identical sibling of the proband is only around 7% (12); (3) the recurrence risk for GD in MZ twins is higher than the risk reported for HLA identical siblings (8); (4) 30% to 50% of Caucasian subjects with GD do not possess the DR3 locus (40); and (5) DR3 is also a marker of other autoimmune diseases, including Hashimoto's thyroiditis (41,42) and insulin-dependent diabetes mellitus (37,40). Moreover, three recent genetic linkage studies performed within multiplex families found no evidence of linkage of HLA class 11 genes with phenotypic GD (5,43,44).…”

Section: Hla Markers and Gdmentioning

confidence: 99%

“…A few of these possible new genetic markers have recently been investigated, but often with conflicting results and no firm conclusions have yet been reached. Associations of GD with polymorphisms of the T-cell receptor (a-and /3-chains) or an immunoglobulin G marker (Gm) have not been substantiated (3,40). Studies of a possible association between GD and an alíele of the interleukin-1 receptor antagonist gene, located on chromosome 2, have yielded contradictory results (59,60).…”

Section: Associations With Non-hla Markersmentioning

confidence: 99%

What is the Evidence of Genetic Factors in the Etiology of Graves' Disease? A Brief Review

Brix¹,

Kyvik²,

Hegedűs³

1998

Thyroid

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Graves' disease (GD) is generally thought of as a multifactorial disorder in which genetic susceptibility interacts with environmental and endogenous factors to cause disease. The importance of genetic factors is suggested by the clustering of GD within families and by a higher concordance rate for disease in monozygotic than in dizygotic twins. This has, however, recently been shown to be less pronounced than previously thought. During the last decade much effort has been put into characterization of the genetic background of GD. Until recently, most studies have examined associations between GD and the human leukocyte antigen (HLA) region, but recent advances in molecular techniques have opened the way for whole genome screening. A number of HLA and non-HLA candidate genes have been proposed, but despite several large investigations within multiplex families no major susceptibility genes have been identified. This brief review discusses relevant articles published from 1940 through 1997 regarding the influence of genetic factors in the etiology of GD. Ongoing studies focus on whole genome screening in multiplex families as well as population-based twin studies. However, the possibility of GD being a heterogeneous disease without a single well-defined genotype and phenotype should be left open.

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Genetics of autoimmune endocrine diseases

Cited by 7 publications

References 99 publications

Association of HLA‐DQA1*0501 with Graves’ disease in English Caucasian men and women

Association of HLA‐DQA1*0501 with Graves’ disease in English Caucasian men and women

Sequential Occurrence of Thyroid Autoantibodies and Graves’ Disease after Immune Restoration in Severely Immunocompromised Human Immunodeficiency Virus-1-Infected Patients

What is the Evidence of Genetic Factors in the Etiology of Graves' Disease? A Brief Review

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