Abstract:
OBJECTIVE:A functional polymorphism at codon 55 of the small ubiquitin-like modifier-4 (SUMO4) gene (methionine to valine; M55V) has recently been associated with type 1 diabetes mellitus (T1D). We aimed to establish whether this locus also contributes towards the genetic susceptibility to Graves' disease (GD) and autoimmune Addison's disease. DESIGN:A case-control analysis was performed using genomic DNA samples from 595 unrelated white GD subjects, 104 white autoimmune Addison's disease subjects and 467 healthy white control subjects. The SUMO4 M55V single nucleotide polymorphism (SNP) was genotyped using polymerase chain reaction (PCR) amplification followed by digestion with the restriction enzyme MseI. RESULTS:There was no association of the SUMO4 M55V alleles with either GD, thyroid-associated orbitopathy or autoimmune Addison's disease when compared to controls; P = 0.28, 0.46 and 0.91, respectively, by chi2 testing. CONCLUSION:We cannot confirm a generalized role for SUMO4 in autoimmune endocrinopathy. The SUMO4 codon 55 methionine to valine polymorphism may be exclusively associated with susceptibility to T1D, or the effect of the locus in GD and Addison's disease may be much less than that found in T1D patients.
journal_name
Clin Endocrinol (Oxf)journal_title
Clinical endocrinologyauthors
Jennings CE,Owen CJ,Wilson V,Pearce SHdoi
10.1111/j.1365-2265.2005.02224.xkeywords:
subject
Has Abstractpub_date
2005-03-01 00:00:00pages
362-5issue
3eissn
0300-0664issn
1365-2265pii
CEN2224journal_volume
62pub_type
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pub_type: 杂志文章
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更新日期:2015-01-01 00:00:00
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journal_title:Clinical endocrinology
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更新日期:1982-04-01 00:00:00
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doi:10.1111/j.1365-2265.2011.04119.x
更新日期:2011-12-01 00:00:00
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pub_type: 杂志文章
doi:10.1111/j.1365-2265.1992.tb01443.x
更新日期:1992-03-01 00:00:00
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doi:10.1111/cen.13764
更新日期:2018-09-01 00:00:00
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doi:10.1111/cen.13312
更新日期:2017-05-01 00:00:00
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pub_type: 杂志文章
doi:10.1111/j.1365-2265.2007.02824.x
更新日期:2007-06-01 00:00:00
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doi:10.1111/j.1365-2265.1982.tb02762.x
更新日期:1982-05-01 00:00:00
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doi:10.1111/cen.12810
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doi:10.1111/j.1365-2265.1982.tb03166.x
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doi:10.1111/j.1365-2265.2007.02751.x
更新日期:2007-03-01 00:00:00
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更新日期:1995-09-01 00:00:00
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doi:10.1111/j.1365-2265.1993.tb02378.x
更新日期:1993-09-01 00:00:00
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pub_type: 临床试验,杂志文章,随机对照试验
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更新日期:1982-03-01 00:00:00
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pub_type: 杂志文章
doi:10.1111/j.1365-2265.1993.tb01770.x
更新日期:1993-08-01 00:00:00
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更新日期:2020-04-01 00:00:00
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更新日期:2010-06-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
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更新日期:1991-05-01 00:00:00
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pub_type: 杂志文章
doi:10.1046/j.1365-2265.1999.00748.x
更新日期:1999-07-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1984.tb00070.x
更新日期:1984-02-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1982.tb03153.x
更新日期:1982-01-01 00:00:00
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 ...
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doi:10.1111/cen.12653
更新日期:2015-04-01 00:00:00
abstract::Seckel syndrome is an autosomal-recessive disorder with a frequency of less than 1/10 000 births in which there are multiple malformations including severe short stature. We report on a patient with Seckel syndrome with a current body height of -7.5 SDS. Laboratory investigations at the age of 19 months revealed high ...
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pub_type: 杂志文章
doi:10.1046/j.1365-2265.2002.01590.x
更新日期:2002-08-01 00:00:00
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pub_type: 杂志文章,评审
doi:10.1111/j.1365-2265.2012.04420.x
更新日期:2012-08-01 00:00:00
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pub_type: 杂志文章
doi:10.1111/j.1365-2265.2007.02798.x
更新日期:2007-05-01 00:00:00
abstract:OBJECTIVE:The impact of exogenous GH on thyroid function remains controversial although most data add support to a stimulation of peripheral T4 to T3 conversion. For further elucidation we evaluated iodothyronine and circadian TSH levels in GH-deficient patients as part of a GH dose-response study. PATIENTS:Eight GH-d...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1994.tb01826.x
更新日期:1994-11-01 00:00:00
abstract::Sera from patients with Graves' disease and Hashimoto's thyroiditis were reacted with normal T lymphocyte preparations in an attempt to detect binding of immunoglobulin G (IgG) to T cells. Sera from normal subjects and patients with toxic adenomas served as controls. Each serum was reacted with at least three differen...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1983.tb00739.x
更新日期:1983-07-01 00:00:00
abstract:OBJECTIVE:The relationship between growth hormone (GH) therapy and malignancy, including leukaemias, remains controversial. In order to study this possible relationship further, we have investigated whether GH treatment induces chromosomal abnormalities in peripheral blood lymphocytes. DESIGN:Open, prospective study i...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1997.2731074.x
更新日期:1997-09-01 00:00:00
abstract:OBJECTIVES:Sleep apnoea has been reported to occur in subjects with acromegaly. This study evaluates the relationship among biochemical activity, sleep apnoeic activity and upper airway anatomic profile in acromegaly, and the effect of Sandostatin LAR, a long-acting somatostatin analogue, on these parameters. PATIENTS...
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pub_type: 杂志文章
doi:10.1046/j.1365-2265.2001.01358.x
更新日期:2001-10-01 00:00:00