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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.

Copy number variation in the CES1 gene and the risk of non-alcoholic fatty liver in a Chinese Han population