Association of APPL1 Gene Polymorphism with Non-Alcoholic Fatty Liver Disease Susceptibility in a Chinese Han Population

2015 ◽  
Vol 61 (11/2015) ◽  
Author(s):  
Baifang Wang ◽  
Bingyuan Wang ◽  
Ying Wang ◽  
Bo Wen ◽  
Shu Liu ◽  
...  
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.


Author(s):  
Zheng Li ◽  
Cheng-Yin Ye ◽  
Li Wang ◽  
Jin-Mei Li ◽  
Lei Yang

Lifestyle choices such as the intake of sweets, history of diseases, and genetic variants seem to play a role in the pathogenesis of non-alcoholic fatty liver disease (NAFLD). To explore which genetic and environmental factors are associated with NAFLD in a Chinese Han population, we conducted this study. We collected the medical reports, lifestyle details, and blood samples of individuals and used the polymerase chain reaction-ligase detection reaction method to genotype the single-nucleotide polymorphism (SNPs) from the 2113 eligible people. The GG genotype of the additive model of rs7493 in the PON2, the CC genotype of the additive and recessive models of rs7593130 in the ADCY3, together with dyslipidemia, regular intake of egg and sweets and hypertension, increased the risk of NAFLD (adjusted OR > 1, p < 0.05). The TT genotype of the additive and dominant models of rs11583680 in the PCSK9, together with the regular intake of vegetable, reduced the risk of NAFLD (adjusted OR < 1, p < 0.05). In addition, interactions between some variables were found. Eventually, we identified three SNPs and six environmental factors associated with NAFLD. These results provide the theoretical basis for gene and other risk factors screening to prevent NAFLD.


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