ArticleNature genetics2012
Genome-wide association study identifies a susceptibility locus for thyrotoxic periodic paralysis at 17q24.3.
Article in Nature genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 41 citations in OpenAlex.
- Thyrotoxic Hypokalemic Periodic Paralysis Induced by High-Dose Insulin in an Adolescent Male with Type 1 Diabetes Mellitus.Hormone research in paediatrics · 2026Article
- Twenty-year trend of thyrotoxicosis and thyrotoxic periodic paralysis: a population-based cohort study.European thyroid journal · 2025Article
- Molecular genetics of skeletal muscle channelopathies.Journal of human genetics · 2025Review
- Genetic predisposition to thyrotoxicosis and onset of knee osteoarthritis.Frontiers in endocrinology · 2024Article
- Assessment of Biochemical and Neuroactivities of Cultural Filtrate fromLife (Basel, Switzerland) · 2023Article
- Gene panel analysis of 119 index patients with suspected periodic paralysis in Japan.Frontiers in neurology · 2023Article
- Novel compound heterozygous mutation ofWorld journal of clinical cases · 2022Article
- Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy.Cells · 2021Review
- Assessment of Molecular Subtypes in Thyrotoxic Periodic Paralysis and Graves Disease Among Chinese Han Adults: A Population-Based Genome-Wide Association Study.JAMA network open · 2019Observational
- Novel lincRNA Susceptibility Gene and Its Role in Etiopathogenesis of Thyrotoxic Periodic Paralysis.Journal of the Endocrine Society · 2017Article
- A Functional Variant rs6435156C > T in BMPR2 is Associated With Increased Risk of Chronic Obstructive Pulmonary Disease (COPD) in Southern Chinese Population.EBioMedicine · 2016Article
- The clinical and genetic features in a cohort of mainland Chinese patients with thyrotoxic periodic paralysis.BMC neurology · 2015Article
- Insight in genome-wide association of metabolite quantitative traits by exome sequence analyses.PLoS genetics · 2015Article
- Deciding whether follow-up studies have replicated findings in a preliminary large-scale omics study.Proceedings of the National Academy of Sciences of the United States of America · 2014Article
- Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype.Human molecular genetics · 2014Article
- Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosis.Journal of human genetics · 2014Article
- A 10-year analysis of thyrotoxic periodic paralysis in 135 patients: focus on symptomatology and precipitants.European journal of endocrinology · 2013Article
- Lifeomics leads the age of grand discoveries.Science China. Life sciences · 2013Review
Corrections and comments
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Authors and funding
17 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Thyrotoxic periodic paralysis (TPP) is a potentially life-threatening complication of thyrotoxicosis. We conducted a genome-wide association study (GWAS) and a replication study with a total of 123 southern Chinese with TPP (cases) and 1,170 healthy controls and identified a susceptibility locus on chromosome 17q24.3 near KCNJ2 (rs312691: odds ratio (OR) = 3.3; P(meta-analysis) = 1.8 × 10(-14)). All subjects with TPP also had Graves' disease, and subsequent TPP versus Graves' disease comparison confirmed that the association at 17q24.3 was specific to TPP. The area under the curve (AUC) of rs312691 genotype for risk prediction of TPP in subjects with Graves' disease was 0.73. Expression quantitative trait locus (eQTL) analysis identified SNPs in the region flanking rs312691 (±10 kb) that could potentially affect KCNJ2 expression (P = 0.0001). Our study has identified a susceptibility locus associated with TPP and provides insight into the causes of TPP.
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