Format

Send to

Choose Destination
See comment in PubMed Commons below
Clin Chim Acta. 2012 Dec 24;414:105-8. doi: 10.1016/j.cca.2012.08.004. Epub 2012 Aug 15.

Genetic variant rs623011 (17q24.3) associates with non-familial thyrotoxic and sporadic hypokalemic paralysis.

Author information

1
Graduate Institute of Medical Sciences, National Defense Medical Center, Taipei, Taiwan.

Abstract

BACKGROUND:

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.

PURPOSE:

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.

METHODS:

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.

RESULTS:

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.

CONCLUSIONS:

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.

PMID:
22910584
DOI:
10.1016/j.cca.2012.08.004
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Support Center