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

Research output: Contribution to journalArticle

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Abstract

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
Volume28
Issue number1
DOIs
Publication statusPublished - Jan 1 2014
Externally publishedYes

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Gout
Protein Kinases
Single Nucleotide Polymorphism
Population
Genes
Linkage Disequilibrium
Chromosomes
Hyperuricemia
Myosins
Gene Frequency
Arthritis
Phosphorylation

All Science Journal Classification (ASJC) codes

  • Cell Biology
  • Cancer Research

Cite this

Chiba, T., Matsuo, H., Sakiyama, M., Nakayama, A., Shimizu, S., Wakai, K., ... Shinomiya, N. (2014). Common variant of ALPK1 is not associated with gout: a replication study. Human Cell, 28(1), 1-4. https://doi.org/10.1007/s13577-014-0103-1

Common variant of ALPK1 is not associated with gout : a replication study. / Chiba, Toshinori; Matsuo, Hirotaka; Sakiyama, Masayuki; Nakayama, Akiyoshi; Shimizu, Seiko; Wakai, Kenji; Suma, Shino; Nakashima, Hiroshi; Sakurai, Yutaka; Shimizu, Toru; Ichida, Kimiyoshi; Shinomiya, Nariyoshi.

In: Human Cell, Vol. 28, No. 1, 01.01.2014, p. 1-4.

Research output: Contribution to journalArticle

Chiba, T, Matsuo, H, Sakiyama, M, Nakayama, A, Shimizu, S, Wakai, K, Suma, S, Nakashima, H, Sakurai, Y, Shimizu, T, Ichida, K & Shinomiya, N 2014, 'Common variant of ALPK1 is not associated with gout: a replication study', Human Cell, vol. 28, no. 1, pp. 1-4. https://doi.org/10.1007/s13577-014-0103-1
Chiba T, Matsuo H, Sakiyama M, Nakayama A, Shimizu S, Wakai K et al. Common variant of ALPK1 is not associated with gout: a replication study. Human Cell. 2014 Jan 1;28(1):1-4. https://doi.org/10.1007/s13577-014-0103-1
Chiba, Toshinori ; Matsuo, Hirotaka ; Sakiyama, Masayuki ; Nakayama, Akiyoshi ; Shimizu, Seiko ; Wakai, Kenji ; Suma, Shino ; Nakashima, Hiroshi ; Sakurai, Yutaka ; Shimizu, Toru ; Ichida, Kimiyoshi ; Shinomiya, Nariyoshi. / Common variant of ALPK1 is not associated with gout : a replication study. In: Human Cell. 2014 ; Vol. 28, No. 1. pp. 1-4.
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