Journal article
Genetic variant rs623011 (17q24.3) associates with non-familial thyrotoxic and sporadic hypokalemic paralysis
Clinica chimica acta, Vol.414, pp.105-108
12/24/2012
DOI: 10.1016/j.cca.2012.08.004
PMID: 22910584
Abstract
A recent genome-wide association study of Thai patients with thyrotoxic periodic paralysis (TPP) identified a novel genetic variant rs623011 located in chromosome 17q24.3, which may potentially reduce the transcription of Kir2.1 and total Kir current.
The aim of this study was to evaluate whether this genetic variant was present in Chinese patients with TPP and sporadic periodic paralysis (SPP), the second leading cause of non-familial hypokalemic periodic paralysis (hypoKPP) in Asia.
Ninety patients with TPP, 61 SPP, and 100 age and sex-matched healthy subjects were performed. Genomic DNA was isolated from blood leukocytes and analysis of rs623011 was performed by polymerase chain reaction and direct sequencing.
Compared with normal control, the frequency of the risk allele A of rs623011 was significantly higher in both TPP and SPP patients (73.9% versus 53.5%, p=0.001; 82.0% versus 53.5%, p<0.001, respectively) with the Odds ratios (95% confidence interval) 2.426 (1.348–4.369) and 4.488 (2.265–8.891), respectively. The frequency of the A allele of rs623011 was similar between TPP and SPP.
TPP and SPP have the same susceptible gene variant rs623011 and may share the pathogenic mechanism of reduced Kir current in skeletal muscle independent of thyroid hormone.
► Non-familial TPP and SPP feature acute hypokalemia and muscle paralysis. ► TPP and SPP may reduce Kir current in skeletal muscle. ► A variant rs623011 potentially modifying the expression of Kir2.1 is present in both TPP and SPP.
Details
- Title: Subtitle
- Genetic variant rs623011 (17q24.3) associates with non-familial thyrotoxic and sporadic hypokalemic paralysis
- Creators
- Pei-Yi Chu - National Defense Medical CenterChih-Jen Cheng - Tri-Service General HospitalMin-Hua Tseng - Chang Gung Memorial HospitalSung-Sen Yang - National Defense Medical CenterHsiang-Cheng Chen - Tri-Service General HospitalShih-Hua Lin - National Defense Medical Center
- Resource Type
- Journal article
- Publication Details
- Clinica chimica acta, Vol.414, pp.105-108
- Publisher
- Elsevier B.V
- DOI
- 10.1016/j.cca.2012.08.004
- PMID
- 22910584
- ISSN
- 0009-8981
- eISSN
- 1873-3492
- Grant note
- name: Research Fund of the Tri-Service General Hospital, award: TSGH-C101-114; name: Teh-Tzer Study Group for the Human Medical Research Foundation
- Language
- English
- Date published
- 12/24/2012
- Academic Unit
- Nephrology; Internal Medicine
- Record Identifier
- 9984383922602771
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