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

Research output: Contribution to journalArticle

23 Citations (Scopus)

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).

Original languageEnglish
Pages (from-to)301-304
Number of pages4
JournalJournal of Human Genetics
Volume57
Issue number5
DOIs
Publication statusPublished - 01-05-2012

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Hypokalemic Periodic Paralysis
Genome-Wide Association Study
Odds Ratio
Hyperthyroidism
Confidence Intervals
Single Nucleotide Polymorphism
Chromosomes
Genetic Loci
Hypokalemia
Linkage Disequilibrium

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Jongjaroenprasert, W., Phusantisampan, T., Mahasirimongkol, S., Mushiroda, T., Hirankarn, N., Snabboon, T., ... Nakamura, Y. (2012). A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis. Journal of Human Genetics, 57(5), 301-304. https://doi.org/10.1038/jhg.2012.20
Jongjaroenprasert, Wallaya ; Phusantisampan, Theerawut ; Mahasirimongkol, Surakameth ; Mushiroda, Taisei ; Hirankarn, Nattiya ; Snabboon, Thiti ; Chanprasertyotin, Suwannee ; Tantiwong, Puntip ; Soonthornpun, Supamai ; Rattanapichart, Paninee ; Mamanasiri, Sunee ; Himathongkam, Thep ; Ongphiphadhanakul, Boonsong ; Takahashi, Atsushi ; Kamatani, Naoyuki ; Kubo, Michiaki ; Nakamura, Yusuke. / A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis. In: Journal of Human Genetics. 2012 ; Vol. 57, No. 5. pp. 301-304.
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Jongjaroenprasert, W, Phusantisampan, T, Mahasirimongkol, S, Mushiroda, T, Hirankarn, N, Snabboon, T, Chanprasertyotin, S, Tantiwong, P, Soonthornpun, S, Rattanapichart, P, Mamanasiri, S, Himathongkam, T, Ongphiphadhanakul, B, Takahashi, A, Kamatani, N, Kubo, M & Nakamura, Y 2012, 'A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis', Journal of Human Genetics, vol. 57, no. 5, pp. 301-304. https://doi.org/10.1038/jhg.2012.20

A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis. / Jongjaroenprasert, Wallaya; Phusantisampan, Theerawut; Mahasirimongkol, Surakameth; Mushiroda, Taisei; Hirankarn, Nattiya; Snabboon, Thiti; Chanprasertyotin, Suwannee; Tantiwong, Puntip; Soonthornpun, Supamai; Rattanapichart, Paninee; Mamanasiri, Sunee; Himathongkam, Thep; Ongphiphadhanakul, Boonsong; Takahashi, Atsushi; Kamatani, Naoyuki; Kubo, Michiaki; Nakamura, Yusuke.

In: Journal of Human Genetics, Vol. 57, No. 5, 01.05.2012, p. 301-304.

Research output: Contribution to journalArticle

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AU - Jongjaroenprasert, Wallaya

AU - Phusantisampan, Theerawut

AU - Mahasirimongkol, Surakameth

AU - Mushiroda, Taisei

AU - Hirankarn, Nattiya

AU - Snabboon, Thiti

AU - Chanprasertyotin, Suwannee

AU - Tantiwong, Puntip

AU - Soonthornpun, Supamai

AU - Rattanapichart, Paninee

AU - Mamanasiri, Sunee

AU - Himathongkam, Thep

AU - Ongphiphadhanakul, Boonsong

AU - Takahashi, Atsushi

AU - Kamatani, Naoyuki

AU - Kubo, Michiaki

AU - Nakamura, Yusuke

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Jongjaroenprasert W, Phusantisampan T, Mahasirimongkol S, Mushiroda T, Hirankarn N, Snabboon T et al. A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis. Journal of Human Genetics. 2012 May 1;57(5):301-304. https://doi.org/10.1038/jhg.2012.20