Common variant of BCAS3 is associated with gout risk in Japanese population: the first replication study after gout GWAS in Han Chinese
作者: Masayuki SakiyamaHirotaka MatsuoHirofumi NakaokaYusuke KawamuraMakoto KawaguchiToshihide HigashinoAkiyoshi NakayamaAiri AkashiJun UeyamaTakaaki KondoKenji WakaiYutaka SakuraiKen YamamotoHiroshi OoyamaNariyoshi Shinomiya
刊名: BMC Medical Genetics, 2018, Vol.19 (1), pp.1-6
来源数据库: Directory of Open Access Journals
DOI: 10.1186/s12881-018-0583-z
关键词: Breast carcinoma amplified sequence 3 (BCAS3)Potassium voltage-gated Channel subfamily Q member 1 (KCNQ1)Regulatory factor X3 (RFX3)Single nucleotide polymorphisms (SNP)UrateUric acid
原始语种摘要: Abstract Background Gout is a common disease resulting from hyperuricemia which causes acute arthritis. A recent genome-wide association study (GWAS) of gout identified three new loci for gout in Han Chinese: regulatory factor X3 (RFX3), potassium voltage-gated channel subfamily Q member 1 (KCNQ1), and breast carcinoma amplified sequence 3 (BCAS3). The lack of any replication studies of these three loci using other population groups prompted us to perform a replication study with Japanese clinically defined gout cases and controls. Methods We genotyped the variants of RFX3 (rs12236871), KCNQ1 (rs179785) and BCAS3 (rs11653176) in 723 Japanese clinically defined gout cases and 913 controls by TaqMan method. rs179785 of KCNQ1 is also evaluated by direct sequencing because of difficulties of...
全文获取路径: DOAJ  (合作)
分享到:
来源刊物:
影响因子:2.536 (2012)

×
关键词翻译
关键词翻译
  • nucleotide 核苷酸
  • replication 复制
  • amplified verification扩大核查
  • sequencing 排序
  • Japanese 日本人日语日本的
  • evaluate 求...的值
  • variant 变体
  • association 联合
  • population 母体
  • member