Common variant of ALPK1 is not associated with gout: a replication study

Toshinori Chiba, Hirotaka Matsuo, Masayuki Sakiyama, Akiyoshi Nakayama, Seiko Shimizu, Kenji Wakai, Shino Suma, Hiroshi Nakashima, Yutaka Sakurai, Toru Shimizu, Kimiyoshi Ichida, Nariyoshi Shinomiya

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8 Citations (Scopus)


Gout is one of the most kinds of common inflammatory arthritis as a consequence of hyperuricemia. Alpha-protein kinase 1 (ALPK1) gene locates in a gout-susceptibility locus on chromosome 4q21–31, and encodes ALPK1 protein which plays a pivotal role in the phosphorylation of myosin 1. In the previous genetic study of Taiwanese populations, 3 single nucleotide polymorphisms (SNPs), rs11726117, rs231247 and rs231253, in ALPK1 gene were reported to have a significant association with gout. However, no replication study has been performed to confirm this association. Therefore, we first conducted a replication study with clinically defined gout patients in a different population. Linkage disequilibrium (LD) analyzes of the 3 SNPs in ALPK1 revealed that these SNPs are in strong LD in a Japanese population. Among the 3 SNPs of ALPK1, rs11726117 (M861T) is the only missense SNP. Therefore, rs11726117 was genotyped in a Japanese population of 903 clinically defined gout cases and 1,302 controls, and was evaluated for a possible association with gout. The minor allele frequencies of rs11726117 were 0.26 and 0.25 in the case and control groups, respectively. The association analysis has not detected a significant association between rs11726117 and gout susceptibility in a Japanese population (p = 0.44). Because ABCG2, a major causative gene for gout, also locates in the gout-susceptibility locus on chromosome 4q, these findings suggest that among genes in a gout-susceptibility locus, not ALPK1 but ABCG2 could be important as a gout-susceptible gene.

Original languageEnglish
Pages (from-to)1-4
Number of pages4
JournalHuman Cell
Issue number1
Publication statusPublished - Jan 2014
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Cell Biology
  • Cancer Research


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