Research Paper 慢性腎臓病の早期発見と末期腎不全・心血管障害予防のための個別化予防システムの開発

山田, 芳司  ,  西田, 有  ,  YAMADA, Yoshiji  ,  NISHIDA, Tamotsu

2015-05-15 , 三重大学
慢性腎臓病252例・対照249例においてゲノム全領域関連解析を行い、慢性腎臓病に関連する遺伝子多型を5個抽出した。さらに別の2つの集団(慢性腎臓病 910人・対照 838人および慢性腎臓病 190人、対照 1412人)において再現性を検証し、慢性腎臓病に関連する染色体3q28領域のA→G多型(rs9846911)を同定した。また糖尿病性腎症に関連するALPK1遺伝子A→G多型(rs2074381)とG→A多型(rs2074380)を発見した。慢性腎臓病感受性遺伝子多型加え、年齢・性別・肥満・喫煙・高血圧・糖尿病・脂質異常症を包括した慢性腎臓病の個別化予防システムのプロトタイプモデルを開発した。
We performed a genome-wide association study (GWAS) to identify genetic variants that confer susceptibility to chronic kidney disease (CKD). The initial GWAS for CKD was performed in 252 individuals with CKD and 249 controls. The replication studies were performed in 910 with CKD and 838 controls and in 190 with CKD and 1412 controls. The rs9846911 at 3q28 was significantly associated with CKD in all individuals and rs2074381 and rs2074380 of ALPK1 were associated with CKD in diabetic individuals. The 3q28 may be a susceptibility locus for CKD in Japanese individuals, and ALPK1 may be a susceptibility gene for CKD in such individuals with diabetes mellitus. A prototype model of the personalized prevention system for CKD was developed with conventional risk factors and the polymorphisms identified in the present study. This system predicts the future risk for CKD in each individual by calculating the prediction probability from the results of laboratory examination and genetic analysis.

Number of accesses :  

Other information