Polymorphisms in the interferon-induced helicase (IFIH1) locus and susceptibility to Addison's disease.


OBJECTIVE:The interferon-induced helicase C domain-containing protein 1 (IFIH1) gene encodes a sensor for double-stranded RNA that initiates antiviral activity against enteroviruses. Previous investigations have indicated a role for IFIH1 in autoimmunity, as common and rare polymorphisms in this gene have been associated with type 1 diabetes. We hypothesized that polymorphisms in the IFIH1 locus may play a role in the pathogenesis of autoimmune Addison's disease (AAD). DESIGN:We analysed the association of rs3747517, rs1990760, rs2111485 and rs13422767 single-nucleotide polymorphisms (SNPs) in the IFIH1 gene and intergenic region with AAD in a Polish cohort. The study comprised 120 patients with AAD and 689 healthy control individuals. Genotyping was performed using TaqMan genotyping assays. RESULTS:The major AA genotype of the coding SNP rs1990760 appeared significantly more frequently in AAD compared with healthy individuals (AG vs AA OR 0·62, 95%CI 0·40-0·95, P = 0·03). We also observed a significant difference in the distribution of the rs13422767 SNP alleles. The major G allele was more frequent in the AAD group (A vs G OR 0·65, 95%CI 0·43-0·98, P = 0·04). Both statistically significant differences, for rs1990760 and rs13422767 SNPs, did not survive the Bonferroni correction (P = 0·11 and P = 0·15, for AA genotype and G allele, respectively). Subsequently, a meta-analysis of 519 patients with AAD and 1362 controls from three different European populations was performed. Under a fixed-effect model, a pooled OR for A allele and AA genotype of rs1990760 did not display any significant increase among AAD (OR = 1·05, P = 0·56 and OR = 1·08, P = 0·50, respectively). CONCLUSION:The IFIH1 locus polymorphisms are unlikely to be associated with Addison's disease.


Clin Endocrinol (Oxf)


Clinical endocrinology


Zurawek M,Fichna M,Januszkiewicz D,Fichna P,Nowak J




Has Abstract


2013-02-01 00:00:00












  • Insulin sensitivity in growth hormone-deficient children: influence of replacement treatment.

    abstract:OBJECTIVE:In adults, excessive GH secretion may lead to secondary diabetes mellitus, while prolonged GH treatment may accelerate the onset of type 2 diabetes mellitus in predisposed children. The aim of the study was to evaluate insulin sensitivity (IS) and glucose tolerance (GT) in a group of GH-deficient children tre...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Radetti G,Pasquino B,Gottardi E,Contadin IB,Rigon F,Aimaretti G

    更新日期:2004-10-01 00:00:00

  • Prolonged follicular phase and depressed gonadotrophins following hysterectomy and corpus lute-ectomy in women with premenstrual tension syndrome.

    abstract::In an attempt to obtain further information on the aetiology of premenstrual syndrome (PMS), the endocrine changes following enucleation of the corpus luteum in the mid-luteal phase of the cycle were studied in seven patients with PMS, and the results compared to details of seven control patients undergoing hysterecto...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Bäckström T,Smith S,Lothian H,Baird DT

    更新日期:1985-06-01 00:00:00

  • Uses for recombinant human TSH in patients with thyroid cancer and nodular goiter.

    abstract::Recombinant human TSH (rhTSH) has revolutionized the care of patients with differentiated thyroid cancer. Since its approval for clinical use in 2001 in Europe (1998 in the USA), rhTSH has greatly enhanced the surveillance of these patients by allowing the avoidance of hypothyroidism for TSH stimulation. Previously, a...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章,评审


    authors: Woodmansee WW,Haugen BR

    更新日期:2004-08-01 00:00:00

  • d-fenfluramine/prolactin response throughout the menstrual cycle: evidence for an oestrogen-induced alteration.

    abstract::The prolactin (PRL) response to fenfluramine (FEN), a serotonin (5-HT) releasing agent, is used as an index of 5-HT sensitivity in studying disorders associated with central 5-HT abnormality. Plasma oestrogen levels are known to augment PRL responses to a variety of stimuli. In order to examine the effect that ovarian...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: O'Keane V,O'Hanlon M,Webb M,Dinan T

    更新日期:1991-04-01 00:00:00

  • The pharmacokinetics, safety and endocrine effects of authentic biosynthetic human growth hormone in normal subjects.

    abstract::The pharmacokinetics, safety and endocrine effects of an authentic human growth hormone (bio-hGH), produced by the expression of genomic hGH in a mammalian cell line, were studied in six healthy young men who were administered 0.2 U/kg/day subcutaneously for five consecutive days. Changes in sodium balance and in thyr...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Ho KY,Weissberger AJ,Stuart MC,Day RO,Lazarus L

    更新日期:1989-04-01 00:00:00

  • The response of plasma oxytocin to surgical stress.

    abstract::Recent evidence suggests that oxytocin (OXT) and arginine vasopressin (AVP) are involved in the response to stress. We have examined the changes in peripheral plasma OXT during abdominal surgery in eight patients (six males, two female; ages 60-82 years) undergoing hemicolectomy and compared the results with those for...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Nussey SS,Page SR,Ang VT,Jenkins JS

    更新日期:1988-03-01 00:00:00

  • Clinicopathological significance of TERT promoter mutation in papillary thyroid carcinomas: a systematic review and meta-analysis.

    abstract:BACKGROUND:The prognostic value of the telomerase reverse transcriptase (TERT) promoter mutation, resulting in poor clinical outcomes of papillary thyroid carcinoma (PTC), has been generally confirmed. To data, there is no high-level evidence approving the association of TERT promoter mutation and aggressive clinical b...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章,meta分析,评审


    authors: Yin DT,Yu K,Lu RQ,Li X,Xu J,Lei M,Li H,Wang Y,Liu Z

    更新日期:2016-08-01 00:00:00

  • The significance of thyroid blood flow at the inferior thyroid artery as a predictor for early Graves' disease relapse.

    abstract:OBJECTIVE:We investigated the clinical usefulness of thyroid blood-flow measurement in predicting relapse of Graves' disease (GD) in comparison with known risk factors for GD relapse. MEASUREMENT:Thyroid blood flow was measured in pulsed Doppler mode at the inferior thyroid artery (ITA), and the peak systolic velocity...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Ueda M,Inaba M,Kumeda Y,Nagasaki T,Hiura Y,Tahara H,Onoda N,Ishikawa T,Nishizawa Y

    更新日期:2005-12-01 00:00:00

  • Usefulness of iodine/creatinine ratio from spot-urine samples to evaluate the effectiveness of low-iodine diet preparation for radioiodine therapy.

    abstract:OBJECTIVE:The success of a low-iodine diet (LID) is best determined by measurement of 24-h urine iodine (U-I) excretion. The aim of this study was to determine reliable estimates for 24-h U-I based on spot-urine samples and to provide cut-offs to determine the effectiveness of LID preparation. DESIGN:We prospectively ...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Kim HK,Lee SY,Lee JI,Jang HW,Kim SK,Chung HS,Tan AH,Hur KY,Kim JH,Chung JH,Kim SW

    更新日期:2010-07-01 00:00:00

  • Serum levels of TSP-1, NF-κB and TGF-β1 in polycystic ovarian syndrome (PCOS) patients in northern China suggest PCOS is associated with chronic inflammation.

    abstract:OBJECTIVE:The objective of this study was to determine the levels of thrombospondin-1 (TSP-1), transforming growth factor-β1 (TGF-β1) and nuclear factor kappaβ (NF-κβ) in polycystic ovarian syndrome (PCOS) patients with and without insulin resistance and after treatment with cyproterone acetate/ethinyloestradiol with o...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Liu M,Gao J,Zhang Y,Li P,Wang H,Ren X,Li C

    更新日期:2015-12-01 00:00:00

  • Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance.

    abstract:OBJECTIVE:Primary glucocorticoid resistance is characterized by decreased sensitivity to cortisol signalling. We have performed genetic analysis of the glucocorticoid receptor (GR) gene in 12 unrelated patients with primary cortisol resistance as defined by a pathological dexamethasone suppression test. METHODS:Exon s...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Ruiz M,Lind U,Gåfvels M,Eggertsen G,Carlstedt-Duke J,Nilsson L,Holtmann M,Stierna P,Wikström AC,Werner S

    更新日期:2001-09-01 00:00:00

  • Diagnosis of growth hormone deficiency after pituitary surgery: the combined acipimox/GH-releasing hormone test.

    abstract:OBJECTIVE:Reduction of plasma free fatty acids leads to enhanced GH response after stimulation by GH-releasing hormone (GHRH). We studied the clinical usefulness of combined administration of acipimox and GHRH for the diagnosis of GH deficiency. DESIGN:We evaluated 35 patients [mean age 53.0 years; mean body mass inde...

    journal_title:Clinical endocrinology

    pub_type: 临床试验,杂志文章


    authors: van Dam PS,Dieguez C,Cordido F,de Vries WR,Veldhuyzen BF,van Thiel E,Casanueva FF,Koppeschaar HP

    更新日期:2003-02-01 00:00:00

  • Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.

    abstract:OBJECTIVE:To investigate two patients with the hyperparathyroidism-jaw tumour (HPT-JT) syndrome and three patients with familial isolated hyperparathyroidism (FIHP), together with 31 parathyroid tumours (2 HPT-JT, 2 FIHP and 27 sporadic) for HRPT2 mutations. The HPT-JT syndrome and FIHP are autosomal dominant disorders...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Bradley KJ,Cavaco BM,Bowl MR,Harding B,Cranston T,Fratter C,Besser GM,Conceição Pereira M,Davie MW,Dudley N,Leite V,Sadler GP,Seller A,Thakker RV

    更新日期:2006-03-01 00:00:00

  • Serum total adiponectin level and risk of cardiovascular disease in Han Chinese populations: a meta-analysis of 17 case-control studies.

    abstract:OBJECTIVE:To systematically evaluate low serum adiponectin level as a risk factor for cardiovascular disease (CVD). A meta-analysis was performed to quantitatively analyse the association of serum total adiponectin level with CVD using previous case-control studies in Han Chinese populations. METHODS:Several electroni...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章,meta分析


    authors: Zhang BC,Liu WJ,Che WL,Xu YW

    更新日期:2012-09-01 00:00:00

  • An audit of oestradiol levels and implant frequency in women undergoing subcutaneous implant therapy.

    abstract:OBJECTIVES:The aim of the study was to review our long-term use of subcutaneous oestradiol (E2) implant therapy for the treatment of climacteric symptoms in post-menopausal women. On the grounds that the aim is to restore premenopausal serum E2 levels, our declared clinical policy is not to repeat implants even in the ...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Buckler HM,Kalsi PK,Cantrill JA,Anderson DC

    更新日期:1995-05-01 00:00:00

  • The influence of body mass index on the diagnostic performance of pre-operative staging ultrasound in papillary thyroid carcinoma.

    abstract:OBJECTIVE:The aim of this study was to investigate the diagnostic performance of pre-operative staging ultrasound (US) according to body mass index (BMI) in patients with papillary thyroid carcinoma (PTC) PATIENTS AND METHODS: This retrospective study included 625 patients with PTC who underwent pre-operative staging U...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Choi JS,Lee HS,Kim EK,Moon HJ,Kwak JY

    更新日期:2015-10-01 00:00:00

  • Elevated serum thyroglobulin as a manifestation of acute haemorrhage into the thyroid gland.

    abstract::Clinical observations and serial determinations of serum thyroglobulin (Tg) were made in five patients with acute haemorrhage into the thyroid gland. Fever, local pain and acceleration of erythrocyte sedimentation rate were minimal or were not observed, and serum T4 and T3 were normal. Although all patients showed an ...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Kawamura S,Kishino B,Tajima K,Mashita K,Tarui S

    更新日期:1984-02-01 00:00:00

  • Variation in absorption and half-life of hydrocortisone influence plasma cortisol concentrations.

    abstract:BACKGROUND:Hydrocortisone therapy should be individualized in congenital adrenal hyperplasia (CAH) patients to avoid over and under replacement. We have assessed how differences in absorption and half-life of cortisol influence glucocorticoid exposure. PATIENTS AND METHODS:Forty-eight patients (21 M) aged between 6·1 ...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Hindmarsh PC,Charmandari E

    更新日期:2015-04-01 00:00:00

  • The effect of B cell depletion therapy on anti-TSH receptor antibodies and clinical outcome in glucocorticoid-refractory Graves' orbitopathy.

    abstract:OBJECTIVE:This case series documents the response of nine individuals with glucocorticoid-refractory Graves' orbitopathy (GO) to B cell depletion therapy with rituximab (RTX). CONTEXT:Graves' disease (GD) is one of the commonest autoimmune conditions and is frequently associated with inflammatory changes around the ey...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Mitchell AL,Gan EH,Morris M,Johnson K,Neoh C,Dickinson AJ,Perros P,Pearce SH

    更新日期:2013-09-01 00:00:00

  • Leptin concentrations in Prader-Willi syndrome before and after growth hormone replacement.

    abstract:OBJECTIVE:This study explored leptin concentrations in Prader-Willi syndrome (PWS), a genetic disorder characterized by significant obesity and presumed hypothalamic dysfunction. The potential interaction of leptin metabolism with the growth hormone (GH) axis was also studied. STUDY DESIGN:Plasma leptin concentrations...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Myers SE,Davis A,Whitman BY,Santiago JV,Landt M

    更新日期:2000-01-01 00:00:00

  • Prevalence and progression of subclinical hypothyroidism in women with type 2 diabetes: the Fremantle Diabetes Study.

    abstract:OBJECTIVE:To assess the prevalence and progression of subclinical hypothyroidism in women with type 2 diabetes. DESIGN AND PATIENTS:Cross-sectional and longitudinal observational assessment of thyroid function in 420 adult females with type 2 diabetes randomly selected from participants in the community-based Fremantl...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Chubb SA,Davis WA,Inman Z,Davis TM

    更新日期:2005-04-01 00:00:00

  • PCR analysis and sequencing of the SRY sex determining gene in four patients with bilateral congenital anorchia.

    abstract:OBJECTIVE:We explored the possibility of a genetic anomaly in the sex determining region of the Y chromosome, SRY gene, known to be equated to the testis determining region. PATIENTS:Four patients with bilateral congenital anorchia, absence of testicular tissue, elevated FSH and a lack of testosterone response to huma...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Lobaccaro JM,Medlej R,Berta P,Belon C,Galifer RB,Guthmann JP,Chevalier C,Czernichow P,Dumas R,Sultan C

    更新日期:1993-02-01 00:00:00

  • Atrial natriuretic factor reduces vasopressin and angiotensin II but not the ACTH response to acute hypoglycaemic stress in normal men.

    abstract:OBJECTIVE:We determined the effects of physiological (non-hypotensive) increments of plasma atrial natriuretic factor (ANF) on the vasopressin and hypothalamic-pituitary-adrenal response to insulin induced hypoglycaemia. DESIGN:Single blind, placebo controlled, randomized study of the effect of vehicle alone or ANF (2...

    journal_title:Clinical endocrinology

    pub_type: 临床试验,杂志文章,随机对照试验


    authors: Wittert GA,Espiner EA,Richards AM,Donald RA,Livesey JH,Yandle TG

    更新日期:1993-02-01 00:00:00

  • Serum CXC ligand 5 is a new marker of subclinical atherosclerosis in type 2 diabetes.

    abstract:OBJECTIVE:To assess the relationship between serum chemokine CXC ligand 5 (CXCL5) and intima-media thickness (IMT) of the common carotid artery, a marker of preclinical atherosclerosis. DESIGN, PATIENTS AND MEASUREMENTS:We measured the IMT (mean of three segments of both carotid arteries by ultrasonography), serum CXC...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Chen L,Yang Z,Lu B,Li Q,Ye Z,He M,Huang Y,Wang X,Zhang Z,Wen J,Liu C,Qu S,Hu R

    更新日期:2011-12-01 00:00:00

  • Thyroid function in short children born small-for-gestational age (SGA) before and during GH treatment.

    abstract:CONTEXT:Disturbances in thyroid function have been described in small-for-gestational age (SGA) children but the influence of prematurity is unclear. In addition, the effect of GH treatment on thyroid function has not been studied in short SGA children. OBJECTIVES:To determine whether short SGA children have higher TS...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: de Kort SW,Willemsen RH,van der Kaay DC,van Dijk M,Visser TJ,Hokken-Koelega AC

    更新日期:2008-08-01 00:00:00

  • A case of multiple endocrine adenomatosis (Type 1) with nesidioblastosis, terminating with an exocrine pancreatic carcinoma.

    abstract::We describe a patient with multiple endocrine adenomatosis Type I, characterized by pituitary-dependent Cushing's Syndrome, marked hyperprolactinaemia, primary hyperparathyroidism and hyperinsulinism leading to hypoglycaemia. The patient subsequently developed an exocrine pancreatic carcinoma at the age of 32 years fr...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Oliver MH,Drury PL,Van't Hoff W

    更新日期:1983-05-01 00:00:00

  • Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism.

    abstract:CONTEXT:Hypoparathyroidism is characterized by hypocalcaemia, hyperphosphataemia, and low or inappropriately normal parathyroid hormone (PTH) levels. Idiopathic or genetic drivers are the predominant causes of hypoparathyroidism in paediatric-age patients. OBJECTIVE:This study investigated the aetiology and clinical c...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Kim JH,Shin YL,Yang S,Cheon CK,Cho JH,Lee BH,Kim GH,Lee JO,Seo EJ,Choi JH,Yoo HW

    更新日期:2015-12-01 00:00:00

  • Association between habitual physical activity and brown adipose tissue activity in individuals undergoing PET-CT scan.

    abstract:OBJECTIVE:Augmented brown adipose tissue (BAT) mass and activity lead to higher basic metabolic rate which is beneficial against obesity. Our aim was to investigate whether habitual (i.e. usual weekly participation) physical activity is linked with BAT activity and mass in humans, in a group of patients undergoing (18)...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Dinas PC,Nikaki A,Jamurtas AZ,Prassopoulos V,Efthymiadou R,Koutedakis Y,Georgoulias P,Flouris AD

    更新日期:2015-01-01 00:00:00

  • Adrenal vein sampling: External validation of multinomial regression modelling and left adrenal vein-to-peripheral vein ratio to predict lateralization index without right adrenal vein sampling.

    abstract:BACKGROUND:Adrenal vein sampling (AVS) failure is mainly due to right adrenal vein unavailability. Multinomial regression modelling (MRM) and left adrenal vein-to-peripheral vein ratio (LAV/PV) were proposed to predict the lateralization index without the right AVS. OBJECTIVE:To assess external validity of MRM and LAV...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Bouchard-Bellavance R,Perrault F,Soulez G,Chagnon M,Kline GA,Bourdeau I,Lacroix A,So B,Therasse E

    更新日期:2020-12-01 00:00:00

  • Abnormal circadian rhythm and increased non-pulsatile secretion of thyrotrophin in Sheehan's syndrome.

    abstract:OBJECTIVE:It has previously been shown that patients with postpartum pituitary necrosis (Sheehan's syndrome, SS) have paradoxically increased TSH levels and loss of the nocturnal TSH surge. This study sought to determine the circadian and pulsatile characteristics of TSH secretion underlying those abnormalities. DESIG...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: MacCagnan P,Oliveira JH,Castro V,Abucham J

    更新日期:1999-10-01 00:00:00