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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2015-01

AUTHORS

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

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. More... »

PAGES

1-4

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s13577-014-0103-1

DOI

http://dx.doi.org/10.1007/s13577-014-0103-1

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1019999457

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/25326865


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Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s13577-014-0103-1'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s13577-014-0103-1'


 

This table displays all metadata directly associated to this object as RDF triples.

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