Abstract
A recent genome-wide copy number variations (CNVs) scan identified a 16q12.2 deletion that included the carboxylesterase 1 (CES1) gene, which is important in the metabolism of fatty acids and cholesterol. We aimed to investigate whether CES1 CNVs was associated with susceptibility to non-alcoholic fatty liver disease (NAFLD) in a Chinese Han population. A case–control study was conducted among 303 patients diagnosed with NAFLD and 303 age (± 5) and sex-matched controls from the Affiliated Nanping First Hospital of Fujian Medical University in China. The copy numbers of CES1 were measured using TaqMan quantitative real-time polymerase chain reaction (qPCR) and serum CES1 was measured using enzyme-linked immunosorbent assays. The Chi-squared test and a logistic regression model were used to evaluate the association between CES1 CNVs and NAFLD susceptibility. The distribution of CES1 CNVs showed a higher frequency of CNVs loss (< 2) among patients; however, the difference was not significant (P = 0.05). After controlling for other known or suspected risk factors for NAFLD, CES1 CNVs loss was significantly associated with greater risk of NAFLD (adjusted OR = 2.75, 95% CI 1.30–5.85, P = 0.01); while CES1 CNVs gain (> 2) was not. There was a suggestion of an association between increased CES1 serum protein levels and CNVs losses among cases, although this was not statistically significant (P = 0.07). Copy number losses (< 2) of CES1 contribute to susceptibility to NAFLD in the Chinese Han population.
Highlights
In contrast to SNPs, copy number variations (CNVs) are a form of quantitative structural rearrangement that include deletions, duplications, and higher order amplifications at regions larger than 50 base p airs[9]
We investigated whether carboxylesterase 1 (CES1) CNVs was associated with susceptibility to nonalcoholic fatty liver disease (NAFLD) in a Chinese Han population
The results of the present study provided evidence that the loss of copy numbers of CES1 was significantly associated with increased susceptibility to NAFLD in a Chinese Han population
Summary
In contrast to SNPs, CNVs are a form of quantitative structural rearrangement that include deletions, duplications, and higher order amplifications at regions larger than 50 base p airs[9]. A genome-wide association study (GWAS) identified that four rare, novel or both CNVs may influence the development of NAFLD. A deletion CNVs was noted at the 16q12.2 locus, which includes the carboxylesterase 1 (CES1) gene. CES1 is very important in the metabolism of fatty acids and c holesterol[11]. The expression of CES1 is higher in human NAFLD hepatic tissue than in normal controls’ hepatic tissue[12]. CES1 expression correlates positively with obesity and associated cardiovascular disease risk factors[15,16], which are risk factors for NAFLD. We speculated that CNVs of CES1 might be associated with susceptibility to NAFLD. We investigated whether CES1 CNVs was associated with susceptibility to NAFLD in a Chinese Han population
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