Publication: A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis
Issued Date
2012-05-01
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ISSN
1435232X
14345161
14345161
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2-s2.0-84861632259
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Mahidol University
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SCOPUS
Bibliographic Citation
Journal of Human Genetics. Vol.57, No.5 (2012), 301-304
Suggested Citation
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 A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis. Journal of Human Genetics. Vol.57, No.5 (2012), 301-304. doi:10.1038/jhg.2012.20 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/13751
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Title
A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis
Author(s)
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
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
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.