title: Association of KCNJ2 Genetic Variants with Susceptibility to Thyrotoxic Periodic Paralysis in Patients with Graves' Disease.
abstract: Objective:Thyrotoxic periodic paralysis (TPP) is characterized by acute onset paralysis and hypokalemia predominantly in male patients with thyrotoxicosis. Recent studies have emphasized the importance of potassium channels, which might explain the underlying mechanism of TPP. TheKCNJ2gene encodes the inward-rectifying potassium channel. In this study, we evaluated the role ofKCNJ2in the development of TPP.Design:Case-control analysis ofKCNJ2genetic association with TPP.Patients:83 male patients with Graves' disease (GD) were recruited for this study; 43 patients had TPP, whereas 40 patients had no history of TPP.Measurements:We analyzed the genotype and allelic frequency of a single-nucleotide polymorphism (SNP; rs312691) (C>T) adjacent to theKCNJ2gene that is known to be related to TPP development.Results:The frequency of the CC genotype of the rs312691 SNP was 0.51 in TPP patients and 0.05 in controls (p-value=6.18×10-6). The C allele frequency of the SNP was 0.67 in the TPP group and 0.38 in the control group (odds ratio 3.24; 95% confidence interval 1.65-6.51;p-value, 3.1×10-4). The rs312691 SNP was significantly associated with TPP.Conclusions:We demonstrated that the rs312691 SNP was significantly associated with TPP. These findings suggest thatKCNJ2plays an important role in the pathophysiology of TPP in Korean GD patients with TPP.
authors.affiliation: Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul 05505, Korea.
authors.forename: Suyeon
authors.initials: S
authors.lastname: Park
authors.affiliation: Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul 05505, Korea.
authors.forename: Tae Yong
authors.initials: TY
authors.lastname: Kim
authors.affiliation: Asan Institute of Life Sciences, Seoul 05505, Korea.
authors.forename: Soyoung
authors.initials: S
authors.lastname: Sim
authors.affiliation: Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul 05505, Korea.
authors.forename: Hye-Seon
authors.initials: HS
authors.lastname: Oh
authors.affiliation: Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul 05505, Korea.
authors.forename: Eyun
authors.initials: E
authors.lastname: Song
authors.affiliation: Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul 05505, Korea.
authors.forename: Mijin
authors.initials: M
authors.lastname: Kim
authors.affiliation: Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul 05505, Korea.
authors.forename: Hyemi
authors.initials: H
authors.lastname: Kwon
authors.affiliation: Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul 05505, Korea.
authors.forename: Yun Mi
authors.initials: YM
authors.lastname: Choi
authors.affiliation: Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul 05505, Korea.
authors.forename: Min Ji
authors.initials: MJ
authors.lastname: Jeon
authors.affiliation: Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul 05505, Korea.
authors.forename: Won Gu
authors.initials: WG
authors.lastname: Kim
authors.affiliation: Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul 05505, Korea.
authors.forename: Young Kee
authors.initials: YK
authors.lastname: Shong
authors.affiliation: Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul 05505, Korea.
authors.forename: Won Bae
authors.initials: WB
authors.lastname: Kim
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People; D020022:Genetic Predisposition to Disease; D006111:Graves Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D056910:Republic of Korea; D013958:Thyroid Crisis / Q000235:genetics*
chemical_list: C489457:KCNJ2 protein, human; D024661:Potassium Channels, Inwardly Rectifying