{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,30]],"date-time":"2026-05-30T03:44:54Z","timestamp":1780112694151,"version":"3.54.0"},"reference-count":10,"publisher":"The Endocrine Society","issue":"12","funder":[{"name":"Grants-in-Aid for Scientific Research (C) from the Ministry of Education, Science, Sports, Culture, and Technology (MEXT) of Japan","award":["17K09852"],"award-info":[{"award-number":["17K09852"]}]},{"name":"Grants-in-Aid for Scientific Research (C) from the Ministry of Education, Science, Sports, Culture, and Technology (MEXT) of Japan","award":["18K08530"],"award-info":[{"award-number":["18K08530"]}]},{"name":"Grants-in-Aid for Scientific Research (C) from the Ministry of Education, Science, Sports, Culture, and Technology (MEXT) of Japan","award":["18K08493"],"award-info":[{"award-number":["18K08493"]}]},{"name":"Grant from the Osaka Medical Research Foundation for Incurable Diseases","award":["19-5"],"award-info":[{"award-number":["19-5"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,12,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context and Objectives<\/jats:title>\n                  <jats:p>Thyrotoxic periodic paralysis (TPP) is an acute complication of thyrotoxicosis that can be lethal. TPP is rare in Caucasians but often affects young men in East Asian populations. This study aimed to clarify the contribution of KCNJ18 to susceptibility to TPP in East Asian populations.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Participants and Methods<\/jats:title>\n                  <jats:p>The study comprised 635 participants including 13 Japanese patients with TPP, 208 Japanese patients with Graves disease without TPP, and 414 healthy control subjects from the Japanese (n = 208), Korean (n = 111), and Caucasian populations (n = 95). DNA samples from 29 participants (13 with TPP, 8 with Graves disease, and 8 controls) were sequenced for KCNJ18, and all participants (n = 635) were genotyped for six variants of KCNJ18 and a polymorphism of KCNJ2 (rs312691).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Six single-nucleotide variants (SNVs) with amino acid substitutions were identified by direct sequencing of KCNJ18. Among these, four SNVs comprised three haplotypes under strong linkage disequilibrium. Haplotype 1 (AAAG) of KCNJ18 was significantly associated with susceptibility to TPP in the Japanese population (OR = 19.6; 95% CI, 1.5 to 256.9; P = 0.013). Haplotype frequencies in the general East Asian (Japanese and Korean) and Caucasian populations differed significantly (haplotype 1: 80.8% vs 48.4%, P = 1.1\u00d710\u221227).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>A major haplotype of KCNJ18 in East Asian populations is significantly associated with susceptibility to TPP. The haplotype is much more common in East Asian than Caucasian populations, suggesting its contribution to the high prevalence of TPP in East Asian populations.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/jc.2019-00672","type":"journal-article","created":{"date-parts":[[2019,8,7]],"date-time":"2019-08-07T14:48:01Z","timestamp":1565189281000},"page":"6338-6344","source":"Crossref","is-referenced-by-count":9,"title":["Contribution of Asian Haplotype of KCNJ18 to Susceptibility to and Ethnic Differences in Thyrotoxic Periodic Paralysis"],"prefix":"10.1210","volume":"104","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0943-8450","authenticated-orcid":false,"given":"Shinsuke","family":"Noso","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Metabolism and Diabetes, Kindai University Faculty of Medicine, Osaka-sayama, Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2466-1228","authenticated-orcid":false,"given":"Naru","family":"Babaya","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Metabolism and Diabetes, Kindai University Faculty of Medicine, Osaka-sayama, Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7317-236X","authenticated-orcid":false,"given":"Yoshihisa","family":"Hiromine","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Metabolism and Diabetes, Kindai University Faculty of Medicine, Osaka-sayama, Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7634-1424","authenticated-orcid":false,"given":"Hiroyuki","family":"Ito","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Metabolism and Diabetes, Kindai University Faculty of Medicine, Osaka-sayama, Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasunori","family":"Taketomo","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Metabolism and Diabetes, Kindai University Faculty of Medicine, Osaka-sayama, Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sawa","family":"Yoshida","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Metabolism and Diabetes, Kindai University Faculty of Medicine, Osaka-sayama, Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fumimaru","family":"Niwano","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Metabolism and Diabetes, Kindai University Faculty of Medicine, Osaka-sayama, Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keisuke","family":"Monobe","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Metabolism and Diabetes, Kindai University Faculty of Medicine, Osaka-sayama, Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatsuro","family":"Minohara","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Metabolism and Diabetes, Kindai University Faculty of Medicine, Osaka-sayama, Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takuya","family":"Okada","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Ikeda City Hospital, Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mamiko","family":"Tsugawa","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Ikeda City Hospital, Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yumiko","family":"Kawabata","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Metabolism and Diabetes, Kindai University Faculty of Medicine, Osaka-sayama, Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8808-4605","authenticated-orcid":false,"given":"Hiroshi","family":"Ikegami","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Metabolism and Diabetes, Kindai University Faculty of Medicine, Osaka-sayama, Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2019,7,30]]},"reference":[{"issue":"2","key":"2019110510560316800_bib1","first-page":"274","article-title":"Thyrotoxic periodic paralysis: clinical and molecular aspects","volume":"43","author":"Falhammar","year":"2013","journal-title":"Endocrine"},{"issue":"3","key":"2019110510560316800_bib2","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1507\/endocrj1954.39.315","article-title":"Comparison of the incidence of association of periodic paralysis and hyperthyroidism in Japan in 1957 and 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