scholarly journals Genetic Variants in the SAMM50 Gene Create Susceptibility to Nonalcoholic Fatty Liver Disease in a Chinese Han Population

2015 ◽  
Vol 15 (10) ◽  
Author(s):  
Lizhen Chen ◽  
Zhonghua Lin ◽  
Man Jiang ◽  
Linlin Lu ◽  
Haiying Zhang ◽  
...  
Hepatology ◽  
2018 ◽  
Vol 67 (5) ◽  
pp. 1710-1725 ◽  
Author(s):  
Graham F. Brady ◽  
Raymond Kwan ◽  
Peter J. Ulintz ◽  
Phirum Nguyen ◽  
Shirin Bassirian ◽  
...  

2016 ◽  
Vol 2016 ◽  
pp. 1-13 ◽  
Author(s):  
Jinsheng Yu ◽  
Sharon Marsh ◽  
Junbo Hu ◽  
Wenke Feng ◽  
Chaodong Wu

Nonalcoholic fatty liver disease (NAFLD) is the most common chronic liver disease in the world, and it comprises a spectrum of hepatic abnormalities from simple hepatic steatosis to steatohepatitis, fibrosis, cirrhosis, and liver cancer. While the pathogenesis of NAFLD remains incompletely understood, a multihit model has been proposed that accommodates causal factors from a variety of sources, including intestinal and adipose proinflammatory stimuli acting on the liver simultaneously. Prior cellular and molecular studies of patient and animal models have characterized several common pathogenic mechanisms of NAFLD, including proinflammation cytokines, lipotoxicity, oxidative stress, and endoplasmic reticulum stress. In recent years, gut microbiota has gained much attention, and dysbiosis is recognized as a crucial factor in NAFLD. Moreover, several genetic variants have been identified through genome-wide association studies, particularly rs738409 (Ile748Met) inPNPLA3and rs58542926 (Glu167Lys) inTM6SF2, which are critical risk alleles of the disease. Although a high-fat diet and inactive lifestyles are typical risk factors for NAFLD, the interplay between diet, gut microbiota, and genetic background is believed to be more important in the development and progression of NAFLD. This review summarizes the common pathogenic mechanisms, the gut microbiota relevant mechanisms, and the major genetic variants leading to NAFLD and its progression.


2021 ◽  
Vol 20 (1) ◽  
Author(s):  
Li-jie Chen ◽  
Jing Guo ◽  
Song-xia Zhang ◽  
Ying Xu ◽  
Qing Zhao ◽  
...  

Abstract Background Non-alcoholic fatty liver disease (NAFLD) is a multifactorial condition associated with aging, insulin resistance, metabolic syndrome, genetic factors and more. Although genetic traits are among the most important risks factors for NAFLD, the understanding of their influence is still quite limited. The present study aimed at identifying novel single nucleotide polymorphisms (SNPs) that may confer a risk for NAFLD in the Han Chinese population. Methods Based on the “two-hit hypothesis”, candidate SNPs, including Sirtuin3 rs28365927, were genotyped by MassARRAY in B-type ultrasonography-proven NAFLD patients (n = 292) and healthy controls (n = 387). Results In a model analysis of individuals matched based on gender and age that compared 223 NAFLD and 223 non-NAFLD patients, the rs28365927 GA + AA genotype was a significant risk factor for the development of NAFLD in a dominant model. Rs28365927 was significantly associated with a higher NAFLD risk in both an additive model (A vs G) and genotypic model (GA vs GG). Among the NAFLD patients, serum levels of total bilirubin (TBIL), DBIL direct bilirubin (DBIL) and glutamic-pyruvic transaminase (ALT) in rs28365927 A allele carriers (GA + AA) were 11.1, 14.7 and 41.5% higher, respectively, than in non-carriers (GG). Furthermore, among the NAFLD patients, the carriers of Rs28365927 allele A were positively correlated with higher ALT levels. Conclusion Sirtuin3 rs28365927 functional variant confers to the high risk of non-alcoholic fatty liver disease in Chinese Han population. The rs28365927 A allele significantly increased the ALT levels of NAFLD patients.


Cytokine ◽  
2008 ◽  
Vol 44 (1) ◽  
pp. 201-206 ◽  
Author(s):  
Silvia Sookoian ◽  
Gustavo Castaño ◽  
Tomas Fernández Gianotti ◽  
Carolina Gemma ◽  
María Soledad Rosselli ◽  
...  

2019 ◽  
Vol 2019 ◽  
pp. 1-7 ◽  
Author(s):  
Yingyu Xu ◽  
Zhenzhen Zhao ◽  
Shousheng Liu ◽  
Yingpu Xiao ◽  
Mengyuan Miao ◽  
...  

Background. Nonalcoholic fatty liver disease (NAFLD) patients are often prone to coronary artery disease (CAD), and CAD is found to be the main cause of death in NAFLD patients. The purpose of this study was to investigate the association between fatty acid desaturase 2 (FADS2) rs3834458 polymorphism and serum FADS2 level with NAFLD and CAD in Chinese Han population. Materials and Methods. The serum level of FADS2 was detected by enzyme-linked immunosorbent assay (ELISA) in healthy people, NAFLD patients, and NAFLD patients combined with CAD (NAFLD+CAD). Polymerase chain reaction (PCR) was used to detect the genotypes of FADS2 rs3834458 in the three groups. Results. Body mass index (BMI), glucose (GLU), total cholesterol (TC), and low-density lipoprotein cholesterol (LDL-C) of the NAFLD group and the NAFLD+CAD group were higher than those of the healthy control group (P<0.05); the HDL-C of the NAFLD+CAD group was significantly lower than that of the healthy people and the NAFLD group (P<0.05). The serum FADS2 concentration in the NAFLD+CAD group was significantly higher than that in the NAFLD group (P<0.05) and the healthy people (P<0.05). There was no significant difference in genotype distribution (χ2=5.347, P<0.497) and allele frequency (χ2=3.322, P=0.345) between the three groups. Logistic regression analysis showed that the T allele was not an independent risk factor for CAD with NAFLD (OR=1.62, 95% CI: 0.422-6.180). Conclusions. Serum FADS2 concentration was positively correlated with the susceptibility of NAFLD with CAD, while the polymorphism of rs3834458 was not associated with NAFLD with CAD.


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