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Estrogen receptor alpha dinucleotide repeat polymorphism in Japanese patients with autoimmune thyroid diseases
Yoshiyuki Ban, Matsuo Taniyama, Teruaki Tozaki, Motowo Tomita, Yoshio Ban
BMC Medical Genetics , 2000, DOI: 10.1186/1471-2350-1-1
Abstract: Seventeen different alleles were found in 130 patients with GD, 93 patients with HT, and 190 control subjects. There was no significant difference in the distributions of ERα alleles between patients and controls.The present results do not support an association between the ERα gene and AITD in the Japanese population.Autoimmune thyroid diseases (AITDs), including Graves' disease (GD) and Hashimoto's thyroiditis (HT), are the most common human autoimmune diseases and are responsible for significant morbidity in premenopausal women. AITDs are caused by immune responses to the thyroid gland. In GD, the autoimmune process results in production of thyroid-stimulating antibodies and leads to hyperthyroidism, whereas in HT, the end result is thyroid cell death and hypothyroidism [1,2].The pathogenesis of AITDs involves complex interactions between genetic and environmental factors [3,4]. The genetic relations between GD and HT and the familial and sporadic forms of these diseases are unclear. This problem, until now, has been addressed by studying a variety of candidate genes, primarily via association studies. Because it has been assumed that immune dysregulation and/or thyroid antigen presentation are involved in AITD, the candidate genes that have been tested comprised genes involved in immunoregulatory pathways and genes encoding for the major thyroid autoantigens. These genes included the human leukocyte antigen (HLA) [5], immunoglobulin H heavy chain [6], T cell receptor [7], interleukin-1 receptor antagonist [8], interferon-γ [9], thyroid stimulating hormone receptor [10,11], thyroid peroxidase [12], and cytotoxic T lymphocyte antigen-4 (CTLA-4) genes [13]. With the exception of the HLA and CTLA-4 loci, the candidate genes examined gave either negative or equivocal results. Recently, the existence of an estrogen receptor (ER)α gene polymorphism has made clear, and its association to some variant ERα genotypes with breast cancer [14,15], hypertension [16], osteoporo
Lack of association between estrogen receptor β dinucleotide repeat polymorphism and autoimmune thyroid diseases in Japanese patients
Yoshiyuki Ban, Teruaki Tozaki, Matsuo Taniyama, Motowo Tomita, Yoshio Ban
BMC Medical Genetics , 2001, DOI: 10.1186/1471-2350-2-1
Abstract: Fourteen different alleles were found in 133 patients with GD, 114 patients with HT, and 179 controls subjects. The various alleles were designated as allele*1 through allele*14 according to the number of the repeats, from 18 to 30. There was no significant difference in the distributions of ERβ alleles between patient groups and controls. Although recent study demonstrated a significant relation between a allele*9 in the ERβ gene and BMD in postmenopausal Japanese women, there were no statistically significant interaction between this allele and BMD in the distal radius, nor biochemical markers in patients with GD in remission.The present results do not support an association between the ERβ microsatellite marker and AITD in the Japanese population. We also suggest that the ERβ microsatellite polymorphism has at most a minor pathogenic importance in predicting the risk of osteoporosis as a complication of GD.As outlined in a paper we have already published, we analyzed a dinucleotide (TA)n repeat polymorphism lying upstream of the human estrogen receptor (ER) α gene in patients with autoimmune thyroid diseases (AITDs) in normal subjects [1]. Seventeen different alleles were found in 130 patients with Graves' disease (GD), 93 patients with Hashimoto's thyroiditis (HT), and 190 control subjects [1]. There was no significant difference in the distributions of ERα alleles between patients and controls [1].The pathogenesis of AITDs involves complex interactions between genetic and environmental factors [2,3]. Susceptibility to AITDs is conferred by genes in the human leukocyte antigen (HLA) [4,5,6,7,8] and genes unlinked to HLA, including the cytotoxic T lymphocyte antigen (CTLA)-4 gene [9]. The existence of an ERα gene polymorphism has been documented, and its association to some variant ERα genotypes found in breast cancer [10,11], hypertension [12], osteoporosis [13,14], generalized osteoarthritis [15], and some autoimmune diseases such as rheumatoid arthritis [16] h
Autoimmune Thyroid Diseases in Children  [PDF]
Marco Cappa,Carla Bizzarri,Francesca Crea
Journal of Thyroid Research , 2011, DOI: 10.4061/2011/675703
Abstract: The two major autoimmune thyroid diseases (ATDs) include Graves' disease (GD) and autoimmune thyroiditis (AT); both of which are characterized by infiltration of the thyroid by T and B cells reactive to thyroid antigens, by the production of thyroid autoantibodies and by abnormal thyroid function (hyperthyroidism in GD and hypothyroidism in AT). While the exact etiology of thyroid autoimmunity is not known, it is believed to develop when a combination of genetic susceptibility and environmental encounters leads to breakdown of tolerance. It is important to recognize thyroid dysfunction at an early stage by maintaining an appropriate index of suspicion. 1. Introduction Autoimmune thyroid disease (ATD) is the most common autoimmune condition, affecting approximately 2% of the female population and 0.2% of the male population [1]. Its overall prevalence peaks in adulthood; it is also the most common etiology of acquired thyroid dysfunction in paediatrics. It is more common in females and usually occurs in early to mid-puberty [2, 3]. Optimal quantities of thyroid hormone are critical to neurodevelopment and growth. The paediatrician can often recognize thyroid dysfunction in its early stages, by maintaining an appropriate index of suspicion. This review will analyze current opinions and options regarding the etiology, evaluation, diagnosis, treatment, and prognosis of ATDs in children. 1.1. Etiology ATD arises due to complex interactions between environmental and genetic factors, that are yet to be completely defined. ATD is multifactorial in that a genetic predisposition combines with environmental risk factors to promote disease. Early evidence that ATD has a hereditary component stems from studies of familial aggregation. Several studies of young people with ATDs showed a definite genetic propensity for thyroid autoimmunity to run in families [4]. Further evidence of the genetic control of ATDs comes from the observation of twins. Monozygotic twins show a higher concordance rate of disease than dizygotic twins. However, even with identical twins the concordance rate is only about 50%, emphasizing that other important factors, such as the environment, play a role in disease pathogenesis [5–7]. The identified ATDs susceptibility genes can be divided into two broad groups: (1)immune modulating genes, and (2)thyroid specific genes. The immune modulating genes so far identified are: HLA-DR, CTLA-4, CD40, and PTPN22. The cytotoxic T lymphocyte-associated factor 4 (CTLA-4) gene is a major negative regulator of T-cell activation [8]. CTLA-4 activation has been
Thyroid autoantibodies in autoimmune diseases
Innocencio,Regina M.; Romaldini,Jo?o H.; Ward,Laura S.;
Medicina (Buenos Aires) , 2004,
Abstract: abnormalities in the thyroid function and thyroid autoantibodies have been frequently described in patients with autoimmune diseases but seldom in antiphospholipid syndrome patients. in order to determine the prevalence of thyroid function and autoimmune abnormalities, we compared serum thyrotropin (tsh, serum free thyroxine (t4) levels, thyroid antithyroglobulin (tgab) and antithyroperoxidase (tpoab) levels of 25 patients with systemic sclerosis, 25 patients with rheumatoid arthritis and 13 patients with antiphospholipid syndrome to a control group of 113 healthy individuals. evaluation included a thorough clinical examination with particular attention to thyroid disease and a serologic immune profile including rheumatoid factor, antinuclear and anticardiolipin antibody measurements. subclinical hypothyroidism (4.2
Multiple SNPs in Intron 41 of Thyroglobulin Gene Are Associated with Autoimmune Thyroid Disease in the Japanese Population  [PDF]
Yoshiyuki Ban, Teruaki Tozaki, Matsuo Taniyama, Luce Skrabanek, Yasuko Nakano, Yoshio Ban, Tsutomu Hirano
PLOS ONE , 2012, DOI: 10.1371/journal.pone.0037501
Abstract: Background The etiology of the autoimmune thyroid diseases (AITDs), Graves' disease (GD) and Hashimoto's thyroiditis (HT), is largely unknown. However, genetic susceptibility is believed to play a major role. Two whole genome scans from Japan and from the US identified a locus on chromosome 8q24 that showed evidence for linkage with AITD and HT. Recent studies have demonstrated an association between thyroglobulin (Tg) polymorphisms and AITD in Caucasians, suggesting that Tg is a susceptibility gene on 8q24. Objectives The objective of the study was to refine Tg association with AITD, by analyzing a panel of 25 SNPs across an extended 260 kb region of the Tg. Methods We studied 458 Japanese AITD patients (287 GD and 171 HT patients) and 221 matched Japanese control subjects in association studies. Case-control association studies were performed using 25 Tg single nucleotide polymorphisms (SNPs) chosen from a database of the Single Nucleotide Polymorphism Database (dbSNP). Haplotype analysis was undertaken using the computer program SNPAlyze version 7.0. Principal Findings and Conclusions In total, 5 SNPs revealed association with GD (P<0.05), with the strongest SNP associations at rs2256366 (P = 0.002) and rs2687836 (P = 0.0077), both located in intron 41 of the Tg gene. Because of the strong LD between these two strongest associated variants, we performed the haplotype analysis, and identified a major protective haplotype for GD (P = 0.001).These results suggested that the Tg gene is involved in susceptibility for GD and AITD in the Japanese.
New Genetic Insights from Autoimmune Thyroid Disease  [PDF]
Terry F. Davies,Rauf Latif,Xiaoming Yin
Journal of Thyroid Research , 2012, DOI: 10.1155/2012/623852
Abstract: The autoimmune thyroid diseases (AITDs) (Graves’ disease and Hashimoto’s thyroiditis) are complex genetic diseases which most likely have more than 20 genes contributing to the clinical phenotypes. To date, the genes known to be contributing fall into two categories: immune regulatory genes (including HLA, CTLA4, PTPN22, CD40, CD25, and FCRL3) and thyroid-specific genes (TG and TSHR). However, none of these genes contribute more than a 4-fold increase in risk of developing one of these diseases, and none of the polymorphisms discovered is essential for disease development. Hence, it appears that a variety of different gene interactions can combine to cause the same clinical disease pattern, but the contributing genes may differ from patient to patient and from population to population. Furthermore, this possible mechanism leaves open the powerful influence of the environment and epigenetic modifications of gene expression. For the clinician, this means that genetic profiling of such patients is unlikely to be fruitful in the near future. 1. Introduction Many diseases have a tendency to run in families, and we know that this may be due to either environmental influences, or family genetics, or both. The autoimmune thyroid diseases (AITDs), Graves’ disease and Hashimoto’s thyroiditis, are typical examples of such complex diseases and have been recognized for many years as having an important genetic component. In the last 10 years we have learned many new insights into the way genetic influences can enhance thyroid autoimmunity, but there remain large gaps in our knowledge which are unlikely to be filled without major theoretical and technical advances. This brief review examines the current state of knowledge and what new insights we have gained from exploring the genetics of the AITDs, and in particular Graves’ disease. 2. Thyroid Autoantibodies Autoantibodies to thyroid peroxidase (TPO) and thyroglobulin (Tg) are reflections of thyroid disease rather than causative agents [1]. Hence, such thyroid autoantibodies may develop before the onset of clinical AITD and have been long known to increase the risk of developing clinical AITD [2]. The recognition of a familial association for the production of thyroid antibodies [3] led to studies of first-degree relatives of probands with AITD and indicated a dominant pattern of inheritance. Indeed, up to 50% of the siblings of patients with AITD are thyroid antibody positive [4, 5] in contrast to ~15% in the general population [6]. Several segregation analyses have also shown a Mendelian dominant pattern of
Lupus Anticoagulant Positivity in Autoimmune Thyroid Diseases
Meftun ?elikci,Abdullah Hac?hanefio?lu,Erdem Türemen,P?nar Tarkun
Turkish Journal of Endocrinology and Metabolism , 2008,
Abstract: Objective: Autoimmune thyroid diseases are often concomitant with the other autoimmune diseases. In this study, our aim was to assess the presence of lupus anticoagulant, which is an antibody involved in the etiology of thrombosis, in patients with autoimmune thyroid diseases. Materials and Methods: A total of 118 thyroid patients and 54 healthy controls were involved in the study. The coagulation system parameters, thyroid function tests, ANA, anti-dsDNA, anti-TG, anti-TPO, and LA were analyzed.Results: Lupus anticoagulant was found in 41.5% of the patients, in 5.63% of the control group, 45.9% of the patients with positive anti-thyroid autoantibody, 36.8% of the patients with negative anti-thyroid autoantibody. No statistically significant correlation was found between presence of LA and thyroid disease type or presence of autoantibodies. Conclusions: The presence of LA was higher in patients than controls
Autoimmune thyroid disease and other non-endocrine autoimmune diseases  [PDF]
Todorovi?-?ilas Ljiljana,I?in Tijana,Novakovi?-Paro Jovanka,Bajkin Ivana
Medicinski Pregled , 2011, DOI: 10.2298/mpns1104183t
Abstract: Introduction, Autoimmune diseases are chronic conditions initiated by the loss of immunological tolerance to self-antigens. They constitute heterogeneous group of disorders, in which multiple alterations in the immune system result in a spectrum of syndromes that either target specific organs or affect the body systematically. Recent epidemiological studies have shown a possible shift of one autoimmune disease to another or the fact that more than one autoimmune disease may coexist in a single patient or in the same family. Numerous autoimmune diseases have been shown to coexist frequently with thyroid autoimmune diseases. Autoimmune thyroid disease and other organ specific non-endocrine autoimmune diseases. This part of the study reviews the prevalence of autoimmune thyroid disease coexisting with: pernicious anaemia, vitiligo, celiac disease, autoimmune liver disease, miastenia gravis, alopecia areata and sclerosis multiplex, and several recommendations for screening have been given. Autoimmune thyroid disease and other organ non-specific non-endocrine autoimmune diseases. Special attention is given to the correlation between autoimmune thyroid disease and rheumatoid arthritis, systemic lupus erythematosus, syndrome Sj gren, systemic sclerosis and mixed connective tissue disease. Conclusions. Screening for autoimmune thyroid diseases should be recommended in everyday clinical practice, in patients with primary organ-specific or organ non-specific autoimmune disease. Other-wise, in patients with primary thyroid autoimmune disease, there is no good reason of seeking for all other autoimmune diseases, although these patients have a greater risk of developing other autoimmune disease. Economic aspects of medicine require further analyzing of these data, from cost/benefit point of view to justified either mandatory screening or medical practitioner judgment.
Risk Factors Associated with Benign and Malignant Thyroid Nodules in Autoimmune Thyroid Diseases  [PDF]
Priscila Carneiro Moreira Lima,Arnaldo Moura Neto,Marcos Antonio Tambascia,Denise Engelbrecht Zantut Wittmann
ISRN Endocrinology , 2013, DOI: 10.1155/2013/673146
Abstract: Objectives. Assess the prevalence of thyroid nodules and predictors of malignant origin in patients with autoimmune thyroid diseases. Patients and Methods. Retrospective study including 275 patients, 198 with Graves' disease and 77 with Hashimoto’s thyroiditis. Clinical and demographical data, ultrasonographical nodule characteristics, total thyroid volume and histological characteristics were recorded. Results. Graves’ disease: the prevalence of thyroid nodules and thyroid carcinoma were 27.78% and 5.05%, respectively. Older age (OR = 1.054; 95% CI = 1.029–1.080) and larger thyroid volumes (OR = 1.013; 95% CI = 1.003–1.022) increased the chance of nodules. Younger age (OR = 1.073; 95% CI = 1.020–1.128) and larger thyroid volume (OR = 1.018; 95% CI = 1.005–1.030) predicted thyroid carcinoma. Hashimoto’s thyroiditis: the prevalence of thyroid nodules and carcinomas were 50.7% and 7.8%, respectively. Nodules were predicted by thyroid volume (OR = 1.030; 95% CI = 1.001–1.062). We found higher number of nodules in patients with thyroid carcinoma than in those with benign nodules (3 versus 2; ). Patients with Hashimoto’s thyroiditis presented nodules more frequently than patients with Graves’ disease (50.65% versus 27.28%; ), while the prevalence of carcinoma was similar ( ). Conclusions. Larger goiter was associated with carcinoma in Graves’ disease and Hashimoto’s thyroiditis. Younger patients presented higher risk of papillary thyroid carcinoma in Graves’ disease. The prevalence of carcinoma was similar in both conditions. 1. Introduction Association between thyroid autoimmunity and nodules or carcinoma has been suggested in many previous works, but its clinical significance is still uncertain [1]. Whether all patients with autoimmune thyroid diseases are at increased risk for nodules and thyroid cancer or if there are certain individual characteristics that augment this risk is still debatable. In patients with Graves’ disease (GD), nodules are detected in 10–31% of cases [2], and approximately half will present nodules during followup [3]. Some studies have shown that around 17% of those nodules are malignant, whereas in the healthy population this estimate is 5% [4]. It is also known that 1.7–2.5% of patients with GD present malignant nodules, compared to 0.25% in the general population [5], evidencing a greater risk for thyroid carcinoma in this condition. There is a strong link between thyroid carcinoma and GD, which can be considered an adverse prognostic factor [6]. Hashimoto’s thyroiditis (HT) is frequently associated with small thyroid nodules,
Selenium status and over-expression of interleukin-15 in celiac disease and autoimmune thyroid diseases
Stazi,Anna Velia; Trinti,Biagino;
Annali dell'Istituto Superiore di Sanità , 2010, DOI: 10.4415/ANN_10_04_06
Abstract: in celiac disease (cd), for its multifactorial nature, the target organs are not limited to the gut, but include thyroid, liver, skin and reproductive and nervous systems. between the extraintestinal symptoms associated with cd, autoimmune thyroid diseases (aitds) are more evident, underlining as cd-related autoimmune alterations can be modulated not only by gluten but also by various concurrent endogenous (genetic affinity, over-expression of cytokines) and exogenous (environment, nutritional deficiency) factors. in their pathogenesis a central role for over-expression of interleukin-15 (il-15) is shown, by inhibiting apoptosis, leading to the perpetuation of inflammation and tissue destruction. thyroid is particularly sensitive to selenium deficiency because selenoproteins are significant in biosynthesis and activity of thyroid hormones; besides, some selenoproteins as glutathione peroxidase are involved in inhibiting apoptosis. thus, selenium malabsorption in cd can be thought as a key factor directly leading to thyroid and intestinal damage. considering the complexity of this interaction and on the basis of available evidence, the aim of this review is to assess as preventive and therapeutic target the role of il-15 and selenium in the pathogeneses of both cd and aitd.
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