Functional characterization of calcium sensing receptor polymorphisms and absence of association with indices of calcium homeostasis and bone mineral density.

Abstract:

OBJECTIVES:Associations between calcium-sensing receptor (CaSR) polymorphisms and serum calcium, PTH and bone mineral density (BMD) have been reported by six studies. However, three other studies have failed to detect such associations. We therefore further investigated three CaSR coding region polymorphisms (Ala986Ser, Arg990Gly and Gln1011Glu) for associations with indices of calcium homeostasis and BMD and for alterations in receptor function. PATIENTS AND DESIGN:One hundred and ten adult, Caucasian, female, dizygotic twin pairs were investigated for associations between the three CaSR polymorphisms and serum calcium, albumin, PTH, 25-hydroxyvitamin D(3) (25OHD(3)), 1,25-dihydroxyvitamin D(3)[1,25(OH)(2)D(3)], urinary calcium excretion and BMD. Each polymorphic CaSR was also transfected into HEK293 cells and functionally evaluated. RESULTS:There was a lack of association between each of these three CaSR polymorphisms and serum calcium corrected for albumin, PTH, 25OHD(3), 1,25(OH)(2)D(3), urinary calcium excretion or BMD at the hip, forearm and lumbar spine. These findings were supported by a lack of functional differences in the dose-response curves of the CaSR variants, with the EC(50) values (mean +/- SEM) of the wild-type (Ala986/Arg990/Gln1011), Ser986, Gly990 and Glu1011 CaSR variants being 2.74 +/- 0.29 mm, 3.09 +/- 0.34 mm (P > 0.4), 2.99 +/- 0.23 mm (P > 0.4) and 2.96 +/- 0.30 mm (P > 0.5), respectively. CONCLUSIONS:Our study, which was sufficiently powered to detect effects that would explain up to 5%, but not less than 1%, of the variance has revealed that the three CaSR polymorphisms of the coding region have no major influence on indices of calcium homeostasis in this female population, and that they do not alter receptor function.

journal_name

Clin Endocrinol (Oxf)

journal_title

Clinical endocrinology

authors

Harding B,Curley AJ,Hannan FM,Christie PT,Bowl MR,Turner JJ,Barber M,Gillham-Nasenya I,Hampson G,Spector TD,Thakker RV

doi

10.1111/j.1365-2265.2006.02634.x

subject

Has Abstract

pub_date

2006-11-01 00:00:00

pages

598-605

issue

5

eissn

0300-0664

issn

1365-2265

pii

CEN2634

journal_volume

65

pub_type

杂志文章
  • What is the optimal bone-preserving strategy for patients with Addison's disease?

    abstract::Addison's disease is associated with low bone mineral density and increased risk of hip fractures. Causes are multifactorial, contributed by underlying adrenocortical hormonal deficiency, associated autoimmune endocrinopathies, electrolyte disturbances and, in some patients, supraphysiologic glucocorticoid replacement...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/cen.12730

    authors: Lee P,Greenfield JR

    更新日期:2015-08-01 00:00:00

  • Effects of pulse methylprednisolone and oral methylprednisolone treatments on serum levels of oxidative stress markers in Graves' ophthalmopathy.

    abstract:BACKGROUND:Recent evidence has shown that oxidative stress may play a role in the pathogenesis of autoimmune diseases, and this is an issue of considerable research interest in the field of infiltrative ophthalmopathy. Therefore, we evaluated both the relationship between Graves' ophthalmopathy (GO) and serum levels of...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2265.2010.03904.x

    authors: Akarsu E,Buyukhatipoglu H,Aktaran S,Kurtul N

    更新日期:2011-01-01 00:00:00

  • The natural history of congenital hypothyroidism with delayed TSH elevation in neonatal intensive care newborns.

    abstract:OBJECTIVE:To assess the clinical and neurological outcomes in newborns with primary congenital hypothyroidism presented with delayed TSH elevation (dTSH), and to define parameters that may predict the evolution of transient vs. permanent hypothyroidism in these newborns. DESIGN AND PATIENTS:An observational study was ...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/cen.14173

    authors: Zung A,Radi A,Almashanu S

    更新日期:2020-05-01 00:00:00

  • Abnormalities of thyrotrophin (TSH) evening rise and pulsatile release in haemodialysis patients: evidence for hypothalamic-pituitary changes in chronic renal failure.

    abstract::Using a sensitive enzyme amplified immunoassay for TSH, the evening rise and pulsatile release of TSH were studied in 10 men with chronic renal failure treated by haemodialysis. Compared to euthyroid male controls the evening rise of TSH was attenuated (median 0.066 vs 0.195 mU/l/h, P less than 0.01) and the rate of r...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2265.1989.tb00452.x

    authors: Wheatley T,Clark PM,Clark JD,Holder R,Raggatt PR,Evans DB

    更新日期:1989-07-01 00:00:00

  • Changes in pituitary gonadotropins during the amenorrhoea-galactorrhoea syndrome due to sulpiride.

    abstract::Sulpiride, a dopamine receptor blocker which raises prolactin, was given to six women with idiopathic amenorrhoea for 10 days and to eleven women with regular cycles for 3 to 6 months. The latter group developed galactorrhoea and amenorrhoea during treatment. Basal LH AND FSH concentrations showed no significant chang...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2265.1978.tb01507.x

    authors: Buvat J,Thomas K,Racadot A,Blacker C,Buvat-Herbaut M,Ferin F,Linquette M

    更新日期:1978-12-01 00:00:00

  • Correlation between plasma calcium, parathyroid hormone (PTH) and the metabolic syndrome (MetS) in a community-based cohort of men and women.

    abstract:CONTEXT:In recent years, an association has been noted between several abnormalities that characterize the metabolic syndrome (MetS) and primary hyperparathyroidism (pHPT). These abnormalities include dyslipidaemia, obesity, insulin resistance and hypertension. The correlations between plasma calcium, parathyroid hormo...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2265.2009.03558.x

    authors: Ahlström T,Hagström E,Larsson A,Rudberg C,Lind L,Hellman P

    更新日期:2009-11-01 00:00:00

  • An acth-secreting pituitary tumour arising in a patient with congenital adrenal hyperplasia.

    abstract::The case reported is of a 46-year-old woman who had congenital adrenal hyperplasia due to a 21-hydroxylase deficiency, and in whom there was the development of an ACTH secreting pituitary tumour. The patient was untreated with glucocorticoids until the age of 32 years when she presented with infertility. She next pres...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2265.1982.tb01613.x

    authors: Horrocks PM,Franks S,Hockley AD,Rolfe EB,Van Noorden S,London DR

    更新日期:1982-11-01 00:00:00

  • High incidence of positive autoantibodies against thyroid peroxidase and thyroglobulin in patients with sarcoidosis.

    abstract:OBJECTIVE:Although abnormalities of the humoral immune system, such as increased immunoglobulin production, are known in sarcoidosis, the relationship between sarcoidosis and autoimmune disorders in uncertain. We studied the incidence of thyroid autoantibodies and the prevalence of Hashimoto's thyroiditis in patients w...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2265.1997.1630976.x

    authors: Nakamura H,Genma R,Mikami T,Kitahara A,Natsume H,Andoh S,Nagasawa S,Nishiyama K,Chida K,Sato A,Yoshimi T

    更新日期:1997-04-01 00:00:00

  • Blood pressure in children and adolescents with congenital adrenal hyperplasia (21-hydroxylase deficiency): a preliminary report.

    abstract:BACKGROUND:Classical congenital adrenal hyperplasia (CAH) is characterized by a defect in cortisol and aldosterone secretion, adrenal hyperandrogenism, impaired adrenal medullary function and insulin insensitivity. The latter along with the increased tendency towards obesity raises questions whether other cardiovascula...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2265.2003.01757.x

    authors: Roche EF,Charmandari E,Dattani MT,Hindmarsh PC

    更新日期:2003-05-01 00:00:00

  • Radiofrequency ablation for the management of thyroid nodules: A critical appraisal of the literature.

    abstract::The majority of benign thyroid nodules are asymptomatic, remain stable in size and do not require treatment. However, a minority of patients with growing nodules may have local symptoms or cosmetic concerns, and thus demand surgical therapy. The timely use of ultrasound-guided, minimally invasive thermal therapies has...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章,评审

    doi:10.1111/cen.13422

    authors: Cesareo R,Palermo A,Pasqualini V,Cianni R,Gaspa G,Manfrini S,Pacella CM

    更新日期:2017-12-01 00:00:00

  • IL-14 and IL-16 are expressed in the thyroid of patients with either Graves' disease or Hashimoto's thyroiditis.

    abstract:OBJECTIVES:Cytokines have an important role in orchestrating the pathophysiology in autoimmune thyroid disease. The aim of the current study was to analyse the expression of interleukin (IL)-14 and IL-16 in the thyroid tissue of patients with Graves' disease (GD), Hashimoto's thyroiditis (HT) or multinodular goitre (MN...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/cen.12810

    authors: Kemp EH,Ajjan RA,Metcalfe RA,Watson PF,Weetman AP

    更新日期:2015-11-01 00:00:00

  • Diagnosis and management of ACTH-dependent Cushing's syndrome: comparison of the features in ectopic and pituitary ACTH production.

    abstract::The clinical features, diagnosis and management of 16 consecutive patients with ectopic ACTH production are described and biochemical data are compared with those of 48 consecutive patients with pituitary-dependent Cushing's disease. In 10 cases the ectopic ACTH secreting tumour was completely occult to routine clinic...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2265.1986.tb01667.x

    authors: Howlett TA,Drury PL,Perry L,Doniach I,Rees LH,Besser GM

    更新日期:1986-06-01 00:00:00

  • Subcutaneous adipose tissue thickness in adults - correlation with BMI and recommendations for pen needle lengths for subcutaneous self-injection.

    abstract:OBJECTIVE:One of the aims of a subcutaneous (SC) injection is to avoid intradermal or intramuscular injections. Pen systems are an alternative solution to single-use syringes and have become standard for example diabetes therapy. Shorter and smaller needles minimize pain and the risk of intramuscular injections. The th...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2265.2011.04132.x

    authors: Ludescher B,Rommel M,Willmer T,Fritsche A,Schick F,Machann J

    更新日期:2011-12-01 00:00:00

  • Activity of GH/IGF-I axis in patients with dilated cardiomyopathy.

    abstract:OBJECTIVE:There is evidence showing that GH and IGF-I have specific receptors in the heart and that these hormones are able to promote cardiac remodelling and inotropism. It has been reported that patients with dilated cardiomyopathy (DCM) benefit from treatment with rhGH showing a striking increase in cardiac contract...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2265.1999.00696.x

    authors: Broglio F,Fubini A,Morello M,Arvat E,Aimaretti G,Gianotti L,Boghen MF,Deghenghi R,Mangiardi L,Ghigo E

    更新日期:1999-04-01 00:00:00

  • 1-Alpha-hydroxycholecalciferol in the treatment of hypocalcaemic psychosis.

    abstract::Two patients with profound hypocalcaemia due to uraemia and hypoparathyroidism respectively presented with alterations of mental state as their dominant symptom. 1-Alpha-hydroxycholecalciferol (1-alpha-OHD3) was chosen as the principal therapy because of its potency and rapid action. In both patients the plasma calciu...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2265.1976.tb01983.x

    authors: Gertner JM,Hodsman AB,Neuberger JN

    更新日期:1976-09-01 00:00:00

  • Increased free testosterone but normal 5 alpha-reduced testosterone metabolites in obese premenopausal women.

    abstract:OBJECTIVE:The aim of the study was to investigate whether the absence of increased 5 alpha-reductase activity explained the absence of hirsutism in premenopausal obese women with increased free testosterone (FT) levels. DESIGN:As in hyperandrogenicity there generally exists evidence for increased 5 alpha-reductase act...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2265.1992.tb02264.x

    authors: Giagulli VA,De Pergola G,Giorgino F,Cignarelli M,Abbaticchio G,Vermeulen A,Giorgino R

    更新日期:1992-06-01 00:00:00

  • Augmentation index in resistance to thyroid hormone (RTH).

    abstract:OBJECTIVE:Resistance to thyroid hormone (RTH) is associated with a varied clinical presentation. The cardiac effects of RTH have been described but vascular function has yet to be fully evaluated in this condition. We have measured the arterial function of those with RTH to assess any vascular changes. DESIGN:An obser...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2265.2008.03422.x

    authors: Owen PJ,Chatterjee VK,John R,Halsall D,Lazarus JH

    更新日期:2009-04-01 00:00:00

  • A placebo-controlled trial of long-term oral combined continuous hormone replacement therapy in postmenopausal women: effects on arterial compliance and endothelial function.

    abstract:OBJECTIVE:To study the effects of long-term combined continuous oral hormone replacement therapy (HRT) on vascular function in healthy postmenopausal women. BACKGROUND:The cardiovascular effects of HRT are controversial. Improvement in vascular function is a proposed mechanism of oestrogen action but there are no long...

    journal_title:Clinical endocrinology

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1046/j.1365-2265.2001.01382.x

    authors: Teede HJ,Liang YL,Kotsopoulos D,Zoungas S,Cravent R,McGrath BP

    更新日期:2001-11-01 00:00:00

  • Plasma and cyst fluid levels of delta 5 and delta 4 steroid hormones in women with gross cystic breast disease.

    abstract::delta 5 and delta 4 steroid levels were studied in the plasma and cyst fluid of women with gross cystic breast disease (GCBD). In luteal phase a significant increase in plasma levels (mean +/- SEM) of DHA (11.2 +/- 2.4 ng/ml), DHAS (1.45 +/- 0.6 micrograms/ml) and cortisol 277 +/- 15.7 ng/ml) was found; in follicular ...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2265.1987.tb02946.x

    authors: Inaudi P,Bernabei A,Gioffré W,Franchi F,Mazzullo G,De Leo V,D'Antona N

    更新日期:1987-12-01 00:00:00

  • The glutamine 27 glutamic acid polymorphism of the beta2-adrenoceptor gene is associated with abdominal obesity and greater risk of impaired glucose tolerance in men but not in women: a population-based study in Spain.

    abstract:OBJECTIVE:Given the important role of the beta2-adrenoceptor (beta2-AR) in lipid mobilization and the lack of studies in Southern European countries, the aim of this study was to investigate the role of the glutamine 27 glutamic acid (Gln27Glu) beta2-AR polymorphism in the susceptibility to obesity and its metabolic co...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2265.2003.01871.x

    authors: González Sánchez JL,Proenza AM,Martínez Larrad MT,Ramis JM,Fernández Pérez C,Palou A,Serrano Ríos M

    更新日期:2003-10-01 00:00:00

  • Factors associated with serum thyroglobulin levels in a population living in Belarus.

    abstract:OBJECTIVE:Serum thyroglobulin (Tg) has been associated with a number of thyroid disorders and has been proposed as an indicator of iodine deficiency in a population. However, few studies have addressed the epidemiology of Tg in a population-based setting or in the context of exposure to radioactive iodine-131 (I-131). ...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/cen.12107

    authors: Cahoon EK,Rozhko A,Hatch M,Polyanskaya O,Ostroumova E,Tang M,Nadirov E,Yauseyenka V,Savasteeva I,McConnell RJ,Pfeiffer RM,Brenner AV

    更新日期:2013-07-01 00:00:00

  • Complex glycerol kinase deficiency: an unusual cause of salt-wasting in males.

    abstract::We report the case of a male infant who at 10 days of life presented with salt-wasting. Congenital adrenal hyperplasia was excluded on the basis of normal 17 alpha-hydroxy-progesterone plasma levels evaluated before the onset of steroid replacement therapy. The incidental finding of hypertriglyceridaemia led us to sus...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2265.1995.tb02655.x

    authors: Balducci R,Municchi G,Toscano V,Mangiantini A,Sabatini R,Caiola S,Tedeschi B,Orlandi L,Boscherini B

    更新日期:1995-04-01 00:00:00

  • Rethinking antithyroid drugs in pregnancy.

    abstract::Uncontrolled hyperthyroidism in pregnancy poses a risk to both mother and foetus, and the optimal treatment strategy in this setting remains elusive. Instigation of pharmacological therapy or an alternative intervention during pregnancy requires careful consideration, and the evidence that has underpinned our choice o...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/cen.12577

    authors: Napier C,Pearce SH

    更新日期:2015-04-01 00:00:00

  • Symptoms of thyrotoxicosis, bone metabolism and occult atrial fibrillation in older women with mild endogenous subclinical hyperthyroidism.

    abstract:OBJECTIVE:The objective of this study was to evaluate symptoms of thyrotoxicosis, bone turnover, bone mineral density (BMD) and occult atrial fibrillation (AF) in women ≥65 years with mild endogenous subclinical hyperthyroidism (SCH). DESIGN:Cross-sectional and case-control study. PATIENTS:Signs and symptoms of thyro...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/cen.12979

    authors: Rosario PW,Carvalho M,Calsolari MR

    更新日期:2016-07-01 00:00:00

  • Modulation of glucocorticoid metabolism by the growth hormone - IGF-1 axis.

    abstract::The growth hormone-insulin-like growth factor 1 (GH-IGF-1) axis plays an important role in modulating the peripheral metabolism of glucocorticoids mainly through its effect on the isoenzyme 11 beta-hydroxysteroid dehydrogenase 1 (11beta-HSD1) which, in vivo, functions as a reductase catalysing the conversion of cortis...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章,评审

    doi:10.1111/j.1365-2265.2007.02763.x

    authors: Agha A,Monson JP

    更新日期:2007-04-01 00:00:00

  • Sociodemographic, lifestyle and medical influences on serum testosterone and sex hormone-binding globulin in men from UK Biobank.

    abstract:OBJECTIVE:Serum testosterone concentrations are affected by factors unrelated to hypothalamo-pituitary-testicular axis pathology. We evaluated the impact of sociodemographic, lifestyle and medical factors, on serum testosterone and sex hormone-binding globulin (SHBG) in men aged 40-69 years. DESIGN:Cross-sectional ana...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/cen.14342

    authors: Yeap BB,Marriott RJ,Antonio L,Bhasin S,Dobs AS,Dwivedi G,Flicker L,Matsumoto AM,Ohlsson C,Orwoll ES,Raj S,Reid CM,Vanderschueren D,Wittert GA,Wu FCW,Murray K

    更新日期:2021-02-01 00:00:00

  • Cardiac function at rest in hypothyroidism evaluated by equilibrium radionuclide angiography.

    abstract:OBJECTIVE:Previous studies have suggested that hypothyroidism affects both systolic and diastolic cardiac function. We have applied equilibrium radionuclide angiography to the study of heart function at rest in hypothyroidism. DESIGN:A prospective study, evaluating cardiac function at rest in primary hypothyroidism. ...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2265.1999.00662.x

    authors: Tielens ET,Pillay M,Storm C,Berghout A

    更新日期:1999-04-01 00:00:00

  • Effect of vitamin D supplementation on measures of arterial stiffness: a systematic review and meta-analysis of randomized controlled trials.

    abstract:BACKGROUND:Low vitamin D has been associated with poor arterial compliance in observational studies. Arterial stiffness has prognostic value for cardiovascular disease risk. The aim of this systematic review was to clarify the literature surrounding the use of vitamin D to ameliorate arterial stiffness. METHODS:We con...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章,meta分析,评审

    doi:10.1111/cen.13031

    authors: Rodríguez AJ,Scott D,Srikanth V,Ebeling P

    更新日期:2016-05-01 00:00:00

  • Serum iodothyronine concentrations during introduction of thyroxine replacement therapy in hypothyroidism.

    abstract::Serum concentrations of total and free T4 (TT4 and FT4), total and free T3 (TT3 and FT3), rT3, T4 binding globulin (TBG), T3 uptake (T3U) and TSH were measured in 12 patients with severe hypothyroidism before and during the introduction of replacement therapy with oral T4. The dose of T4 was increased by increments of...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2265.1986.tb01695.x

    authors: Pearce CJ,Himsworth RL

    更新日期:1986-09-01 00:00:00

  • Acute pancreatitis and parotitis induced by methimazole in a patient with Graves' disease.

    abstract::A wide variety of adverse effects of methimazole (MMI) have been reported. Here we report a new MMI-induced disorder, acute pancreatitis and parotitis. Three weeks after a woman started MMI treatment for Graves' disease, she developed a high fever, painful parotid swelling and dull pain in the upper abdomen with eleva...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2265.1999.00888.x

    authors: Taguchi M,Yokota M,Koyano H,Endo Y,Ozawa Y

    更新日期:1999-11-01 00:00:00