medicina49巻8号

2012年08月発行

今月の主題 痛風・高尿酸血症診療の新展開 痛風・高尿酸血症の基礎知識

GWAS（ゲノムワイド関連解析）からみた血清尿酸値を決定する遺伝的多型

著者： 鎌谷直之¹

所属機関： ¹スタージェン情報解析研究所

ページ範囲：P.1316 - P.1319

ポイント

★単一遺伝子病としての高尿酸血症，低尿酸血症は以前から知られていた．例えば，HPRT欠損症やPRPP合成酵素亢進症，Uromodulin関連疾患，URAT1欠損症，Xanthine oxidase欠損症，PNP欠損症などである．しかし，これらは特殊な例であって，一般の痛風や高尿酸血症に関係する遺伝要因については不明であった．

★理化学研究所ゲノム医科学研究センターが2002年に開発したゲノムワイド関連解析（GWAS）という手法により，ABCG2，CDC42BPG，GCKR，INHBC，MAP4K2，MEN1，NRXN2，PDZK1，PYGM，RASGRP2，R3HDM2，RREB1，SF1，SLC17A1，SLC17A3，SLC2A9，SLC22A11，SLC22A12，WDR1，LRP2などのさまざまな遺伝子が血清尿酸値と関連することがわかってきた．

★関与が比較的明らかなものは腎尿細管に存在するトランスポーターに関連した遺伝子である．しかし，まだ血清尿酸値への関与のメカニズムが不明なものも存在する．

参考文献

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