CD28/CTLA-4/ICOS haplotypes confers susceptibility to Graves' disease and modulates clinical phenotype of disease.

Abstract:

:Graves' disease, an autoimmune disease with heterogeneous symptoms including Graves' orbitopathy, has a combined genetic/environmental background, where variations within CD28/CTLA-4/ICOS genes are considered as disease markers.Association of CD28c.17+3T>C(rs3116496), CTLA-4g.319C>T(rs5742909), CTLA-4c.49A>G(rs231775), CTLA-4g.*642AT(8_33), CT60(rs3087243), Jo31(rs11571302), ICOSc.1554+4GT(8_15) polymorphisms with susceptibility to Graves' disease and clinical outcome was investigated. The study group comprised of 561 Polish Caucasians, including 172 unrelated Graves' disease patients. CTLA-4c.49A>G, CTLA-4g.319C>T, and CT60 were genotyped by PCR-RFLP; Jo31 and CD28c.17+3C>T by minisequencing; CTLA-4g.*642AT(8_33) and ICOSc.1554+4GT(8_15)-PCR and fluorescence-based technique. CD28c.17+3T>C(rs3116496)T/CTLA-4g.319C>T(rs5742909)C/CTLA-4c.49A>G(rs231775)G/CTLA-4g.*642AT(8_33)(AT16-21)/CT60(rs3087243)G/Jo31(rs11571302)G/ICOSc.1554+4GT(8_15)(m) and TCA(AT<16)GT(m) haplotypes increased risk of Graves' disease, especially in males, as well as overall Graves' orbitopathy development with severe outcome. TCG(AT16-21)GG(l) haplotype increased risk of Graves' disease and reduced the chance of successful medical treatment. Although this haplotype was mainly observed in patients without signs of Graves' orbitopathy, if Graves' orbitopathy developed it favored a Graves' orbitopathy outcome. Haplotype TCA(AT>21)GT(m) increased Graves' disease risk in women and, in all patients, was linked to Graves' disease without Graves' orbitopathy. TCG(AT<16)GG(m) haplotype was predominantly observed in patients without Graves' orbitopathy, whereas TCA(AT16-21)GG(m) was absent in those patients. TCA(AT16-21)GG(m) occurred in patients with a mild Graves' orbitopathy outcome. The marker CTLA-4g.*642AT(8_33) was the only independent Graves' disease risk factor, whereas CT60 was an independent factor for disease progression. Sporadic Graves' disease was related to presence of CTLA-4c.49A>G[A] and the rare CTLA-4g.319C>T[T] allele variant. Familial background of the disease was exclusively associated with CTLA-4g.*642AT(8_33)[AT>21]/[AT>21] genotype. CD28/CTLA-4/ICOS loci may confer inherited susceptibility to Graves' disease or may be involved in susceptibility to Graves' disease and play a pathogenetic role.

journal_name

Endocrine

journal_title

Endocrine

authors

Pawlak-Adamska E,Frydecka I,Bolanowski M,Tomkiewicz A,Jonkisz A,Karabon L,Partyka A,Nowak O,Szalinski M,Daroszewski J

doi

10.1007/s12020-016-1096-1

subject

Has Abstract

pub_date

2017-01-01 00:00:00

pages

186-199

issue

1

eissn

1355-008X

issn

1559-0100

pii

10.1007/s12020-016-1096-1

journal_volume

55

pub_type

杂志文章
  • Total, direct, and indirect serum bilirubin concentrations and metabolic syndrome among the Korean population.

    abstract::Total bilirubin, not direct or indirect bilirubin, has been reported to associate inversely with metabolic syndrome. Therefore, we aimed to evaluate the association between bilirubin subtypes and metabolic syndrome among the Korean population. This study included 5,231 Koreans (3,008 men, 2,223 women) aged 30-87 years...

    journal_title:Endocrine

    pub_type: 杂志文章

    doi:10.1007/s12020-010-9417-2

    authors: Jo J,Yun JE,Lee H,Kimm H,Jee SH

    更新日期:2011-04-01 00:00:00

  • Nonfunctional adrenal incidentalomas may be related to bisphenol-A.

    abstract:PURPOSE:Bisphenol-A (BPA) is an endocrine-disrupting chemical that may affect the hormones and their receptors. The aim of this study is to determine whether BPA has an effect on the development of nonfunctional adrenal incidentaloma (NFAI). METHODS:Fifty patients who were admitted to endocrinology outpatient clinics ...

    journal_title:Endocrine

    pub_type: 杂志文章

    doi:10.1007/s12020-020-02502-2

    authors: Eker F,Gungunes A,Durmaz S,Kisa U,Celik ZR

    更新日期:2020-09-23 00:00:00

  • Effects of pinealectomy and melatonin on gonadotropin-releasing hormone (GnRH) gene expression in the male rat brain.

    abstract::Melatonin, a pineal hormone, is known to be an important neurohormonal factor involved in the timing of reproductive events which occur seasonally in various mammalian species. In order to evaluate the influence of melatonin on neurons which are producing gonadotropin-releasing hormone (GnRH), we studied the effect of...

    journal_title:Endocrine

    pub_type: 杂志文章

    doi:10.1007/BF02738829

    authors: Li S,Pelletier G

    更新日期:1995-07-01 00:00:00

  • Metabolic and anatomic characteristics of benign and malignant adrenal masses on positron emission tomography/computed tomography: a review of literature.

    abstract::PET/CT with (18)F-fluorodeoxyglucose (FDG) or using different radiocompounds has proven accuracy for detection of adrenal metastases in patients undergoing cancer staging. It can assist the diagnostic work-up in oncology patients by identifying distant metastases to the adrenal(s) and defining oligometastatic disease ...

    journal_title:Endocrine

    pub_type: 杂志文章,评审

    doi:10.1007/s12020-014-0440-6

    authors: Kandathil A,Wong KK,Wale DJ,Zatelli MC,Maffione AM,Gross MD,Rubello D

    更新日期:2015-05-01 00:00:00

  • Total parenteral nutrition modulates hormone release by stimulating expression and activity of inducible nitric oxide synthase in rat pancreatic islets.

    abstract::The expression and activities of constitutive nitric oxide synthase (cNOS) and inducible nitric oxide synthase (iNOS) in relation to insulin and glucagon secretory mechanisms were investigated in islets isolated from rats subjected to total parenteral nutrition (TPN) for 10 d. TPN is known to result in significantly i...

    journal_title:Endocrine

    pub_type: 杂志文章

    doi:10.1385/ENDO:16:2:097

    authors: Salehi A,Ekelund M,Henningsson R,Lundquist I

    更新日期:2001-11-01 00:00:00

  • Treatment of multiresistant prolactinomas with a combination of cabergoline and octreotide LAR.

    abstract:BACKGROUND AND OBJECTIVES:Dopamine agonist (DA)-resistant prolactinomas are rare but they constitute a real challenge, since there are few therapeutic alternatives left for these patients. DESIGN AND SETTING:Proof-of-concept study at a tertiary care, referral center. PATIENTS AND METHODS:The studied population consis...

    journal_title:Endocrine

    pub_type: 临床试验,杂志文章

    doi:10.1007/s12020-018-1638-9

    authors: Sosa-Eroza E,Espinosa E,Ramírez-Rentería C,Mendoza V,Arreola R,Mercado M

    更新日期:2018-08-01 00:00:00

  • Epithelial-to-mesenchymal transition in thyroid cancer: a comprehensive review.

    abstract::The Metastatic progression of solid tumors, such as thyroid cancer is a complex process which involves various factors. Current understanding on the role of epithelial-mesenchymal transition (EMT) in thyroid carcinomas suggests that EMT is implicated in the progression from follicular thyroid cancer (FTC) and papillar...

    journal_title:Endocrine

    pub_type: 杂志文章,评审

    doi:10.1007/s12020-019-02030-8

    authors: Shakib H,Rajabi S,Dehghan MH,Mashayekhi FJ,Safari-Alighiarloo N,Hedayati M

    更新日期:2019-12-01 00:00:00

  • Effects of endomorphin-1 on open-field behavior and on the hypothalamic-pituitary-adrenal system.

    abstract::The effects of endomorphin-1 (EM1) on behavioral responses and on the hypothalamic-pituitary-adrenal system were investigated in mice. Locomotor activity was measured in an "open-field" apparatus, with parallel recording of the numbers of rearings and groomings. Different doses of the peptide (250 ng to 5 microg) were...

    journal_title:Endocrine

    pub_type: 杂志文章

    doi:10.1385/ENDO:14:2:221

    authors: Bujdosó E,Jászberényi M,Tömböly C,Tóth G,Telegdy G

    更新日期:2001-03-01 00:00:00

  • Prolactin and sex steroids levels in congenital lifetime isolated GH deficiency.

    abstract::Growth hormone (GH) and prolactin share similarities in structure and function. We have previously shown that women with congenital isolated GH deficiency (IGHD) caused by a homozygous mutation in the GHRH receptor gene (GHRHR) (MUT/MUT) have a short reproductive life, with anticipated climacteric. At climacteric, the...

    journal_title:Endocrine

    pub_type: 杂志文章

    doi:10.1007/s12020-013-9896-z

    authors: Menezes M,Salvatori R,Melo LD,Rocha ÍE,Oliveira CR,Pereira RM,Souza AH,Valença EH,Melo EV,Campos VC,Costa FO,Aguiar-Oliveira MH

    更新日期:2013-08-01 00:00:00

  • Efficacy and safety of fractionated conformal radiation therapy in acromegaly: a long-term follow-up study.

    abstract:BACKGROUND AND PURPOSE:Conformal, fractionated radiation therapy (XRT) is variably used as a treatment alternative for active acromegaly patients, usually, after failed pituitary surgery. Our objective was to evaluate the long-term efficacy and safety of XRT using strict criteria of biochemical control. SETTING, DESIG...

    journal_title:Endocrine

    pub_type: 杂志文章

    doi:10.1007/s12020-019-01955-4

    authors: Gonzales-Virla B,Vargas-Ortega G,Martínez-Vázquez KB,de Lo Monteros ALE,Sosa-Erosa E,López-Félix B,Mendoza-Zubieta V,Mercado M

    更新日期:2019-08-01 00:00:00

  • Evaluation of endocrine complications in beta-thalassemia intermedia (β-TI): a cross-sectional multicenter study.

    abstract:BACKGROUND:Data on the prevalence and type of endocrine disorders in β-thalassemia intermedia (β-TI) patients are scarce. This multicenter study was designed to determine the prevalence of endocrine complications and the associated risk factors in a large group of β-TI patients. METHODS:In this cross-sectional multice...

    journal_title:Endocrine

    pub_type: 杂志文章

    doi:10.1007/s12020-019-02159-6

    authors: Karimi M,Zarei T,Haghpanah S,Azarkeivan A,Kattamis C,Ladis V,Kattamis A,Kilinc Y,Daar S,Alyaarubi S,Khater D,Wali Y,Elshinawy M,Almadhani A,Yassin M,Soliman AT,Canatan D,Obiedat M,Al-Rimawi H,Mariannis D,Christodo

    更新日期:2020-07-01 00:00:00

  • Androgen receptor expression in the testes and epididymides of prenatal and postnatal Sprague-Dawley rats.

    abstract::The androgen receptor (AR) plays a critical role in sexual differentiation and in the virilization of the male reproductive system. A clear understanding of AR expression at the early stages of sexual development will help elucidate the sensitivity of perinatal animals to endocrine modulation by external agents, such ...

    journal_title:Endocrine

    pub_type: 杂志文章

    doi:10.1385/ENDO:9:3:253

    authors: You L,Sar M

    更新日期:1998-12-01 00:00:00

  • Transport of deoxy-D-glucose into lymphocytes of patients with polycystic ovary syndrome.

    abstract::Polycystic ovary syndrome (PCOS) is linked to increased risk of insulin resistance and diabetes mellitus in patients' later life. The aim of this study was to investigate uptake of deoxy-D-glucose by peripheral blood lymphocytes of PCOS patients with normal fasting plasma glucose and normal glucose tolerance test. The...

    journal_title:Endocrine

    pub_type: 杂志文章

    doi:10.1007/s12020-014-0174-5

    authors: Oleszczak B,Szablewski L,Pliszka M,Głuszak O,Stopińska-Głuszak U

    更新日期:2014-11-01 00:00:00

  • Testosterone differentially regulates targets of lipid and glucose metabolism in liver, muscle and adipose tissues of the testicular feminised mouse.

    abstract::Testosterone deficiency is commonly associated with obesity, metabolic syndrome, type 2 diabetes and their clinical consequences-hepatic steatosis and atherosclerosis. The testicular feminised mouse (non-functional androgen receptor and low testosterone) develops fatty liver and aortic lipid streaks on a high-fat diet...

    journal_title:Endocrine

    pub_type: 杂志文章

    doi:10.1007/s12020-016-1019-1

    authors: Kelly DM,Akhtar S,Sellers DJ,Muraleedharan V,Channer KS,Jones TH

    更新日期:2016-11-01 00:00:00

  • Analysis of clinical and genetic characteristics of Chinese children with congenital hyperinsulinemia that is spontaneously relieved.

    abstract:OBJECTIVE:This study aimed to analyze the clinical and genetic characteristics of Chinese children with congenital hyperinsulinemia (CHI) that is spontaneously relieved. METHODS:The patient group comprised 200 children with CHI that were treated at the Beijing Children's Hospital from January 2006 to December 2018. Th...

    journal_title:Endocrine

    pub_type: 杂志文章

    doi:10.1007/s12020-020-02585-x

    authors: Xu ZD,Hui PP,Zhang W,Zeng Q,Zhang L,Liu M,Yan J,Wu YJ,Sang YM

    更新日期:2021-01-27 00:00:00

  • An oral high dose of cholecalciferol restores vitamin D status in deficient postmenopausal HIV-1-infected women independently of protease inhibitors therapy: a pilot study.

    abstract::The best repletion and maintenance dosing regimens with cholecalciferol in vitamin D-deficient HIV-1 patients remain unknown. Protease inhibitors (PIs) have been shown to inhibit vitamin D 1α- and 25α-hydroxylation in hepatocyte and monocyte cultures. We therefore evaluated the effect of a single high dose of cholecal...

    journal_title:Endocrine

    pub_type: 杂志文章

    doi:10.1007/s12020-015-0693-8

    authors: Pepe J,Mezzaroma I,Fantauzzi A,Falciano M,Salotti A,Di Traglia M,Diacinti D,Biondi P,Cipriani C,Cilli M,Minisola S

    更新日期:2016-07-01 00:00:00

  • Higher direct bilirubin levels during mid-pregnancy are associated with lower risk of gestational diabetes mellitus.

    abstract::Bilirubin concentrations have been recently reported to be negatively associated with type 2 diabetes mellitus. We examined the association between bilirubin concentrations and gestational diabetes mellitus. In a prospective cohort study, 2969 pregnant women were recruited prior to 16 weeks of gestation and were follo...

    journal_title:Endocrine

    pub_type: 杂志文章

    doi:10.1007/s12020-016-1103-6

    authors: Liu C,Zhong C,Zhou X,Chen R,Wu J,Wang W,Li X,Ding H,Guo Y,Gao Q,Hu X,Xiong G,Yang X,Hao L,Xiao M,Yang N

    更新日期:2017-01-01 00:00:00

  • Decreased deiodinase activity after glucose load could lead to atherosclerosis in euthyroid women with polycystic ovary syndrome.

    abstract:OBJECTIVE:Glucose and lipid disturbances, as well as higher tendency to atherosclerosis, are observed in women with polycystic ovary syndrome (PCOS). Thyroid hormones action has long been recognized as an important determinant of glucose and lipid homeostasis. Some studies suggest that even in euthyroid subjects, thyro...

    journal_title:Endocrine

    pub_type: 杂志文章

    doi:10.1007/s12020-019-01913-0

    authors: Adamska A,Krentowska A,Łebkowska A,Hryniewicka J,Leśniewska M,Adamski M,Kowalska I

    更新日期:2019-07-01 00:00:00

  • Treatment pattern and frequency of serum TSH measurement in users of different levothyroxine formulations: a population-based study during the years 2009-2015.

    abstract:BACKGROUND:Several conditions can modify the intestinal absorption of levothyroxine tablets, with potential consequences on their therapeutic effect. Pre-dosed ampoules and oral drops have been recently made available to overcome this limitation. AIMS:To describe the pattern of use of different formulations of levothy...

    journal_title:Endocrine

    pub_type: 杂志文章

    doi:10.1007/s12020-017-1242-4

    authors: Ferrara R,Ientile V,Arcoraci V,Ferrajolo C,Piccinni C,Fontana A,Benvenga S,Trifirò G

    更新日期:2017-10-01 00:00:00

  • Complete evaluation of pituitary tumours in a single tertiary care institution.

    abstract:INTRODUCTION:We retrospectively evaluated all patients with pituitary tumours treated in our department from 1/1/1997 to 01/11/2014. PATIENTS AND METHODS:Two hundred and fifteen patients (124 females, 91 males, mean age 50.9 years) were treated because of pituitary tumours. All patients underwent basal hormonal analys...

    journal_title:Endocrine

    pub_type: 杂志文章

    doi:10.1007/s12020-018-1570-z

    authors: Askitis D,Tsitlakidis D,Müller N,Waschke A,Wolf G,Müller UA,Kloos C

    更新日期:2018-05-01 00:00:00

  • Galectin-3 and HBME-1 improve the accuracy of core biopsy in indeterminate thyroid nodules.

    abstract::Core needle biopsy (CNB) has been recently described as an accurate second-line test in thyroid inconclusive cytology (FNA). Here we retrospectively investigated the potential improvement given by Galectin-3, Cytokeratin-19, and HBME-1 on the accuracy of CNB in thyroid nodules with prior indeterminate FNA report. The ...

    journal_title:Endocrine

    pub_type: 杂志文章

    doi:10.1007/s12020-015-0678-7

    authors: Trimboli P,Guidobaldi L,Amendola S,Nasrollah N,Romanelli F,Attanasio D,Ramacciato G,Saggiorato E,Valabrega S,Crescenzi A

    更新日期:2016-04-01 00:00:00

  • Effects of incretin-based therapy in patients with heart failure and myocardial infarction.

    abstract::Studies designed to evaluate the short-term effects of incretin-related drugs in subjects with cardiac disease are still preliminary. In patients with heart failure, two of five studies showed that glucagon-like peptide-1 (GLP-1) infusion was associated with an absolute increase in left ventricular ejection fraction (...

    journal_title:Endocrine

    pub_type: 杂志文章,评审

    doi:10.1007/s12020-014-0175-4

    authors: Mikhail N

    更新日期:2014-09-01 00:00:00

  • Pituitary-adrenal axis and peripheral cortisol metabolism in obese patients.

    abstract:BACKGROUND AND AIM:A close relationship between adiposity and increased cortisol levels is well established in patients with endogenous hypercortisolism. Nevertheless, hypothalamic-pituitary-adrenal (HPA) axis regulation in overweight subjects is still a matter of concern. We studied free cortisol (urinary free cortiso...

    journal_title:Endocrine

    pub_type: 杂志文章

    doi:10.1007/s12020-020-02392-4

    authors: Ceccato F,Lizzul L,Barbot M,Scaroni C

    更新日期:2020-08-01 00:00:00

  • Cytoplasmic Ca2+ in glucagon-producing pancreatic alpha-cells exposed to carbachol and agents affecting Na+ fluxes.

    abstract::The cytoplasmic Ca2+ concentration ([Ca2+]i) was measured with dual wavelength fluorometry in glucagon-producing mouse pancreatic alpha-cells loaded with the indicator fura-2. Spontaneous rhythmic activity in terms of slow oscillations from a basal level was observed at 3 mM glucose. Like in the insulin-secreting beta...

    journal_title:Endocrine

    pub_type: 杂志文章

    doi:10.1007/BF02738806

    authors: Berts A,Gylfe E,Hellman B

    更新日期:1997-02-01 00:00:00

  • Hypovitaminosis D in adolescents living in the land of sun is correlated with incorrect life style: a survey study in Campania region.

    abstract:PURPOSE:The aim of this study is to investigate in a population of adolescents living in Regione Campania, undergoing sun exposure at least 9 months per year the prevalence of severe deficiency (<20 ng/ml) or insufficiency (21-29 ng/ml) of 25-Hydroxyvitamin D (25(OH)D) levels and its relationship with individual body w...

    journal_title:Endocrine

    pub_type: 杂志文章

    doi:10.1007/s12020-014-0483-8

    authors: Colao A,Muscogiuri G,Rubino M,Vuolo L,Pivonello C,Sabatino P,Pizzo M,Campanile G,Fittipaldi R,Lombardi G,Di Somma C

    更新日期:2015-06-01 00:00:00

  • A combination of immunohistochemistry and molecular approaches improves highly sensitive detection of BRAF mutations in papillary thyroid cancer.

    abstract::The optimal method for BRAF mutation detection remains to be determined despite advances in molecular detection techniques. The aim of this study was to compare, against classical Sanger sequencing, the diagnostic performance of two of the most recently developed, highly sensitive methods: BRAF V600E immunohistochemis...

    journal_title:Endocrine

    pub_type: 杂志文章

    doi:10.1007/s12020-015-0720-9

    authors: Martinuzzi C,Pastorino L,Andreotti V,Garuti A,Minuto M,Fiocca R,Bianchi-Scarrà G,Ghiorzo P,Grillo F,Mastracci L

    更新日期:2016-09-01 00:00:00

  • Insulin like growth factor-1 (IGF-1) decreases ischemia-reperfusion induced apoptosis and necrosis in diabetic rats.

    abstract::Previous evidence supports the view that insulin, as well as insulin like growth factor-1 (IGF-1) provides neurotropic support for neurons in the central nervous system (CNS) and peripheral nervous system (PNS). In the present study we evaluated the effects of the intravenous infusion of IGF-1 on both necrosis and apo...

    journal_title:Endocrine

    pub_type: 杂志文章

    doi:10.1007/s12020-007-0012-0

    authors: Rizk NN,Myatt-Jones J,Rafols J,Dunbar JC

    更新日期:2007-02-01 00:00:00

  • Expression of gap junctional proteins connexin 43, 32, and 26 throughout follicular development and atresia in cows.

    abstract::Detection of connexin (Cx) proteins has been used as an indicator of the presence of structural and functional gap junctions in tissues. To examine the role of gap junctions during follicular growth and atresia, the presence of three major connexins, Cx43, Cx32, and Cx26, was evaluated in bovine ovaries by using immun...

    journal_title:Endocrine

    pub_type: 杂志文章

    doi:10.1385/ENDO:10:1:43

    authors: Johnson ML,Redmer DA,Reynolds LP,Grazul-Bilska AT

    更新日期:1999-02-01 00:00:00

  • Radioiodide induces apoptosis in human thyroid tissue in culture.

    abstract::Radioiodide ((131)I) is routinely used for the treatment of toxic adenoma, Graves' disease, and for ablation of thyroid remnant after thyroidectomy in patients with thyroid cancer. The toxic effects of ionizing radiations on living cells can be mediated by a necrotic and/or apoptotic process. The involvement of apopto...

    journal_title:Endocrine

    pub_type: 杂志文章

    doi:10.1007/s12020-013-9940-z

    authors: Russo E,Guerra A,Marotta V,Faggiano A,Colao A,Del Vecchio S,Tonacchera M,Vitale M

    更新日期:2013-12-01 00:00:00

  • Differential effects of intermittent and continuous administration of parathyroid hormone on bone histomorphometry and gene expression.

    abstract::A mechanism explaining the differential skeletal effects of intermittent and continuous elevation of serum parathyroid hormone (PTH) remains elusive. Intermittent PTH increases bone formation and bone mass and is being investigated as a therapy for osteoporosis. By contrast, chronic hyperparathyroidism results in the ...

    journal_title:Endocrine

    pub_type: 杂志文章,评审

    doi:10.1385/ENDO:17:1:29

    authors: Lotinun S,Sibonga JD,Turner RT

    更新日期:2002-02-01 00:00:00