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Title: A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis
Authors: Wallaya Jongjaroenprasert
Theerawut Phusantisampan
Surakameth Mahasirimongkol
Taisei Mushiroda
Nattiya Hirankarn
Thiti Snabboon
Suwannee Chanprasertyotin
Puntip Tantiwong
Supamai Soonthornpun
Paninee Rattanapichart
Sunee Mamanasiri
Thep Himathongkam
Boonsong Ongphiphadhanakul
Atsushi Takahashi
Naoyuki Kamatani
Michiaki Kubo
Yusuke Nakamura
Mahidol University
Prince of Songkla University
Thailand Ministry of Public Health
Chulalongkorn University
Maharaj Nakhon Ratchasima Hospital
Sappasitthiprasong Hospital
Ratchaburi Regional Hospital
Theptarin Hospital
Institute of Medical Science The University of Tokyo
Keywords: Biochemistry, Genetics and Molecular Biology;Medicine
Issue Date: 1-May-2012
Citation: Journal of Human Genetics. Vol.57, No.5 (2012), 301-304
Abstract: Several 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.
ISSN: 1435232X
Appears in Collections:Scopus 2011-2015

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