臨牀消化器内科 Vol.28 No.4(6-1)


特集名 NASH ― 病態と治療
題名 NASHの成因と病態 (1) NASH成因のGWASによる解析
発刊年月 2013年 04月
著者 岡上 武 大阪府済生会吹田病院
【 要旨 】 生活習慣病の肝臓での表現型といわれるNASHの背景や予後はさまざまで，それら異質性の一因として遺伝的素因の関与が考えられる．日本人NAFLDを対象にしたGWASでは，22番染色体近傍のpatatin-like phospholipase domain containing protein 3（PNPLA3）がNASH 発症・進展の感受性遺伝子として同定できた．Matteoni type 1，2，3，4のうち，1，2，3はコントロールと差はなく，Matteoni type 4ではrisk alleleの頻度が有意に高くNASH発症リスクのodds比が2.58であった．他の遺伝子の関与の可能性も考えられ，さらに検討を進める必要がある．
Theme NASH -- Pathogenesis and Treatment
Title Genome Wide Association Study on Pathogenesis of NASH
Author Takeshi Okanoue Department of Gastroenterology & Hepatology, Saiseikai Suita Hospital
[ Summary ] There is often an association between nonalcoholic steatohepatitis (NASH) and lifestyle related diseases such as diabetes mellitus, obesity, dyslipidemia and hypertension. However, the natural history of these conditions varies and the prognosis for NASH patients is complex. We performed a genome-wide association study (GWAS) recruiting 529 histologically diagnosed NAFLD patients and 932 individuals for the control group. A significant association was observed in the cluster of SNPs in PNPLA3s on chromosome 22q13 associated with rs738409. A subgroup analysis of NAFLD patients in contrast to the control group exhibited a significant association with rs738409 with type 4 NAFLD. The PNPLA3 gene is strongly associated with the progression of NASH in the Japanese population.
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