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2015年7月24日讯/生物谷BIOON/–基因突变被发现在正常体重范围内促进非酒精性脂肪肝病(NAFLD)的发生，这种形式的肝脏疾病与肥胖密切相关。与非携带着相比，携带PNPLA3突变体基因的病人被发现处于非酒精性脂肪肝高风险期，即便携带者不胖。这种在突变基因、非酒精性脂肪肝与体重之间的交互作用被熊本大学的研究人员阐明。
两种类型的研究在熊本红十字医院健康检查程序中进行，740例横断面研究和393例回顾性纵向研究受试者进行了五年的医疗记录。那些有习惯性饮酒和有阳性乙肝和丙肝的检查从分析关于非酒精性脂肪肝的风险中被排除。在超重(体重指数25 kg / m2)或正常体重(体重指数< 25 kg / m2)项目之间，基因型和非酒精性脂肪肝风险或肾功能下降之间的关联被分析。
Oniki博士小组提供了初步结果，与没有携带这些基因的人相比，正常体重者携带突变基因型(大约20%的日本人)患非酒精性脂肪肝和肾功能障碍的几率会更高。这表明无论体重是否变化，突变可以用于早期非酒精性脂肪肝和肾功能衰退高危个体的分类。
“我们希望阐明正常体重者之间非酒精性脂肪肝的风险因素，这将对易感人群，特别是亚洲人种患非酒精性脂肪肝及其并发症的早期预防和治疗有一定帮助。”Oniki博士说。（基因宝jiyinbao.com）
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Influence of the PNPLA3 rs738409 Polymorphism on Non-Alcoholic Fatty Liver Disease and Renal Function among Normal Weight Subjects.
.1.Kentaro Oniki, Junji Saruwatari, Tomoko Izuka, Ayami Kajiwara, Kazunori Morita, Misaki Sakata, Koji Otake, Yasuhiro Ogata, Kazuko Nakagawa.
In normal weight subjects (body mass index < 25 kg/m2), non-alcoholic fatty liver disease (NAFLD) is likely to coexist with metabolic diseases. The patatin-like phospholipase 3 (PNPLA3) polymorphism rs738409 (c.444C>G) is associated with the risk of NAFLD and/or renal dysfunction; however, the influence of the weight status on the associations remains unknown. We aimed to clarify the associations of the PNPLA3 polymorphism with the risk of NAFLD and/or renal dysfunction, while also paying careful attention to the weight status of the subjects. Cross-sectional and retrospective longitudinal studies with 5.5 ± 1.1 years of follow-up were conducted in 740 and 393 Japanese participants (61.2 ± 10.5 and 67.5 ± 6.0 years), respectively, during a health screening program. Among 591 subjects who did not have a habitual alcohol intake and/or hepatitis B or C virus infections, the PNPLA3 G/G genotype was associated with the risk for NAFLD in normal weight subjects [odds ratio (95% CI): 3.06 (1.11–8.43), P < 0.05]. Among all subjects, carriers of the PNPLA3 G/G genotype with a normal weight had a lower eGFR than those of the C/C genotype [partial regression coefficient (SE): -3.26 (1.48), P < 0.05]. These associations were replicated in the longitudinal analyses. Among the overweight subjects, none of the genotypes were significantly associated in the cross-sectional and longitudinal analyses; however, the power of the analyses was small, especially in the analyses among overweight subjects. The findings of this study suggest that carriers of the PNPLA3 G/G genotype with a normal weight status should nevertheless be carefully monitored for the presence of NAFLD and/or renal dysfunction.