Relationships between Genetic Variations of PNPLA3, TM6SF2 and Histological Features of Nonalcoholic Fatty Liver Disease in Japan

被引：29

作者：

Akuta, Norio ^{[1
,2
]}

Kawamura, Yusuke ^{[1
,2
]}

Arase, Yasuji ^{[1
,2
]}

Suzuki, Fumitaka ^{[1
,2
]}

Sezaki, Hitomi ^{[1
,2
]}

Hosaka, Tetsuya ^{[1
,2
]}

Kobayashi, Masahiro ^{[1
,2
]}

Kobayashi, Mariko ^{[3
]}

Saitoh, Satoshi ^{[1
,2
]}

Suzuki, Yoshiyuki ^{[1
,2
]}

Ikeda, Kenji ^{[1
,2
]}

Kumada, Hiromitsu ^{[1
,2
]}

机构：

[1] Toranomon Gen Hosp, Dept Hepatol, Tokyo, Japan

[2] Okinaka Mem Inst Med Res, Tokyo, Japan

[3] Toranomon Gen Hosp, Liver Res Lab, Tokyo, Japan

来源：

GUT AND LIVER | 2016年 / 10卷 / 03期

关键词：

Non-alcoholic fatty liver disease; Non-alcoholic steatohepatitis; Fibrosis stage; Patatin-like phospholipase domain containing 3; Transmembrane 6 superfamily member 2; CLINICAL SCORING SYSTEM; CONFERS SUSCEPTIBILITY; STEATOHEPATITIS; SEVERITY; VARIANT; ASSOCIATION; VALIDATION; DIAGNOSIS; FIBROSIS; PLACEBO;

D O I：

10.5009/gnl15163

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

100201 [内科学];

摘要：

Background/Aims: It is important to determine the noninvasive parameters of histological features in nonalcoholic fatty liver disease (NAFLD). The aim of this study was to investigate the value of genetic variations as surrogate markers Of histological features. Methods: The parameters that affected the histological features of NAFLD were investigated in 211 Japanese patients with biopsy-proven NAFLD. The relationships between genetic variations in PNPLA3 rs738409 or TM6SF2 rs58542926 and histological features were analyzed. Furthermore, the impact of genetic variations that affected the pathological criteria for the diagnosis of nonalcoholic steatohepatitis (NASH) (Matteoni classification and NAFLD activity score) was evaluated. Results: The fibrosis stage of PNPLA3 GG was significantly more progressive than that of CG by multiple comparisons. Multivariate analysis identified PNPLA3 genotypes as predictors of fibrosis of stage 2 or more, but the impact tended to decrease at stage 3 or greater. There were no significant differences among the histological features of the three genotypes of TM6SF2. PNPLA3 genotypes partly affected the definition of NASH by the NAFLD activity score, but TM6SF2 genotypes did not affect the definition of NASH. Conclusions: In Japanese patients with biopsy-proven NAFLD, PNPLA3 genotypes may partly affect histological features, including stage of fibrosis, but the TM6SF2 genotype does not affect histological features.

引用

页码：437 / 445

页数：9

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