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

研究成果: Article査読

29 被引用数 (Scopus)

抄録

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).

本文言語English
ページ(範囲)301-304
ページ数4
ジャーナルJournal of Human Genetics
57
5
DOI
出版ステータスPublished - 05-2012

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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