Common variant of ALPK1 is not associated with gout: a replication study
作者： Toshinori Chiba , Hirotaka Matsuo , Masayuki Sakiyama , Akiyoshi Nakayama , Seiko Shimizu
DOI: 10.1007/S13577-014-0103-1
关键词:
摘要: Gout is one of the most kinds common inflammatory arthritis as a consequence hyperuricemia. Alpha-protein kinase 1 (ALPK1) gene locates in gout-susceptibility locus on chromosome 4q21–31, and encodes ALPK1 protein which plays pivotal role phosphorylation myosin 1. In previous genetic study Taiwanese populations, 3 single nucleotide polymorphisms (SNPs), rs11726117, rs231247 rs231253, were reported to have significant association with gout. However, no replication has been performed confirm this association. Therefore, we first conducted clinically defined gout patients different population. Linkage disequilibrium (LD) analyzes SNPs revealed that these are strong LD Japanese Among ALPK1, rs11726117 (M861T) only missense SNP. was genotyped population 903 cases 1,302 controls, evaluated for possible The minor allele frequencies 0.26 0.25 case control groups, respectively. analysis not detected between susceptibility (p = 0.44). Because ABCG2, major causative gout, also 4q, findings suggest among genes locus, but ABCG2 could be important gout-susceptible gene.
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