A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis
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 susceptibi...
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th-mahidol.137512018-06-11T12:12:21Z A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis 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 Riken Chulalongkorn University Maharaj Nakhon Ratchasima Hospital Sappasitthiprasong Hospital Ratchaburi Regional Hospital Theptarin Hospital Institute of Medical Science The University of Tokyo Biochemistry, Genetics and Molecular Biology Medicine 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. 2018-06-11T04:37:28Z 2018-06-11T04:37:28Z 2012-05-01 Article Journal of Human Genetics. Vol.57, No.5 (2012), 301-304 10.1038/jhg.2012.20 1435232X 14345161 2-s2.0-84861632259 https://repository.li.mahidol.ac.th/handle/123456789/13751 Mahidol University SCOPUS https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84861632259&origin=inward |
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Biochemistry, Genetics and Molecular Biology Medicine 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 |
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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. |
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Mahidol University |
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Mahidol University 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 |
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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 |
author_sort |
Wallaya Jongjaroenprasert |
title |
A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis |
title_short |
A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis |
title_full |
A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis |
title_fullStr |
A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis |
title_full_unstemmed |
A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis |
title_sort |
genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis |
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2018 |
url |
https://repository.li.mahidol.ac.th/handle/123456789/13751 |
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1763494437421318144 |