Document Detail

Arg16Gly polymorphism in beta2-adrenergic receptor gene is not associated with thyrotoxic periodic paralysis in Korean male patients with Graves' disease.
MedLine Citation:
PMID:  15853829     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Thyrotoxic periodic paralysis (TPP) occurs most frequently in Asian males and present with an acute episode of proximal muscle weakness in the setting of thyrotoxicosis. Despite the fact that mutations were described in genes encoding ion channels in familial hypokalaemic periodic paralysis, no definite genetic variants were found in TPP. beta2-adrenergic receptors (ADRB2s) are expressed in skeletal muscle and stimulate the sodium pump. Single nucleotide polymorphisms in ADRB2 gene were identified and may act as disease modifiers in various diseases. OBJECTIVE: We were to demonstrate that ADRB2 gene might be a susceptibility gene for TPP in Korean male patients with Graves' disease. DESIGN AND PATIENTS: In a series of 28 male TPP patients and 31 control patients, three polymorphisms in ADRB2 gene have been studied: a T to C substitution at -47 (-47T/C), Arg16Gly and Gln27Glu. Control patients were male Graves' patients without history of paralysis. RESULTS: The distributions of the -47C, Gly16 and Glu27 alleles in all patients were 0.02, 0.34 and 0.02, respectively. The genotype Arg16/Arg16 was not significantly associated with TPP (odds ratio 0.53; 95% confidence interval, 0.19-1.50; corrected P = 0.897). Also, the frequency of genotype Gly16/Gly16 was not significantly different in TPP patients than in controls (0.07 vs. 0.23; odds ratio, 0.26; 95% confidence interval, 0.05-1.40; corrected P = 0.45). Allele frequencies of ADRB2 in patients with TPP did not differ from controls. CONCLUSIONS: The polymorphism of the ADRB2 gene may not confer genetic susceptibility to TPP in Korean male patients with Graves' disease.
Tae Yong Kim; Ja Young Song; Won Bae Kim; Young Kee Shong
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Clinical endocrinology     Volume:  62     ISSN:  0300-0664     ISO Abbreviation:  Clin. Endocrinol. (Oxf)     Publication Date:  2005 May 
Date Detail:
Created Date:  2005-04-27     Completed Date:  2005-07-14     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0346653     Medline TA:  Clin Endocrinol (Oxf)     Country:  England    
Other Details:
Languages:  eng     Pagination:  585-9     Citation Subset:  IM    
Department of Internal Medicine, Asan Medical Centre, University of Ulsan College of Medicine, Seoul, Korea.
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MeSH Terms
Asian Continental Ancestry Group
Case-Control Studies
Genetic Predisposition to Disease
Graves Disease / complications,  genetics*
Hypokalemic Periodic Paralysis / etiology,  genetics*
Middle Aged
Odds Ratio
Polymorphism, Genetic*
Receptors, Adrenergic, beta-2 / genetics*
Reg. No./Substance:
0/Receptors, Adrenergic, beta-2

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