Wallaya JongjaroenprasertTheerawut PhusantisampanSurakameth MahasirimongkolTaisei MushirodaNattiya HirankarnThiti SnabboonSuwannee ChanprasertyotinPuntip TantiwongSupamai SoonthornpunPaninee RattanapichartSunee MamanasiriThep HimathongkamBoonsong OngphiphadhanakulAtsushi TakahashiNaoyuki KamataniMichiaki KuboYusuke NakamuraMahidol UniversityPrince of Songkla UniversityThailand Ministry of Public HealthRikenChulalongkorn UniversityMaharaj Nakhon Ratchasima HospitalSappasitthiprasong HospitalRatchaburi Regional HospitalTheptarin HospitalInstitute of Medical Science The University of Tokyo2018-06-112018-06-112012-05-01Journal of Human Genetics. Vol.57, No.5 (2012), 301-3041435232X143451612-s2.0-84861632259https://repository.li.mahidol.ac.th/handle/20.500.14594/13751Several lines of evidence have pointed out that genetic components have roles in thyrotoxic hypokalemic periodic paralysis (TTPP). In this study, for the first time we performed genome-wide association study (GWAS) in male hyperthyroid subjects in order to identify genetic loci conferring susceptibility to TTPP. We genotyped 78 Thai male TTPP cases and 74 Thai male hyperthyroid patients without hypokalemia as controls with Illumina Human-Hap610 Genotyping BeadChip. Among the SNPs analyzed in the GWAS, rs312729 at chromosome 17q revealed the lowest P-value for association (P=2.09 × 10 -7 ). After fine mapping for linkage disequilibrium blocks surrounding the landmark SNP, we found a significant association of rs623011; located at 75 kb downstream of KCNJ2 on chromosome 17q, reached the GWAS significance after Bonferroni's adjustment (P=3.23 × 10 -8 , odds ratio (OR)=6.72; 95% confidence interval (CI)=3.11-14.5). The result was confirmed in an independent cohort of samples consisting of 28 TTPP patients and 48 controls using the same clinical criteria diagnosis (replication analysis P=3.44 × 10 -5 , OR=5.13; 95% CI=1.87-14.1; combined-analysis P=3.71 × 10 -12 , OR=5.47; 95% CI=3.04-9.83). © 2012 The Japan Society of Human Genetics All rights reserved.Mahidol UniversityBiochemistry, Genetics and Molecular BiologyMedicineArticleSCOPUS10.1038/jhg.2012.20