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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.
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1 Fujian Medical University, Department of Epidemiology and Health Statistics, Fujian Provincial Key Laboratory of Environment Factors and Cancer, School of Public Health, Fujian, China (GRID:grid.256112.3) (ISNI:0000 0004 1797 9307); First Hospital of Quanzhou Affiliated to Fujian Medical University, Department of Hospital Infection Control, Quanzhou, China (GRID:grid.412683.a) (ISNI:0000 0004 1758 0400)
2 The Second Affiliated Hospital of Hainan Medical College, Department of Infectious Disease, Haikou, China (GRID:grid.452571.0)
3 Fujian Medical University, Department of Epidemiology and Health Statistics, Fujian Provincial Key Laboratory of Environment Factors and Cancer, School of Public Health, Fujian, China (GRID:grid.256112.3) (ISNI:0000 0004 1797 9307)
4 Fujian Medical University, Department of Epidemiology and Health Statistics, Fujian Provincial Key Laboratory of Environment Factors and Cancer, School of Public Health, Fujian, China (GRID:grid.256112.3) (ISNI:0000 0004 1797 9307); Fujian Medical University, Key Laboratory of Ministry of Education for Gastrointestinal Cancer, Fujian, China (GRID:grid.256112.3) (ISNI:0000 0004 1797 9307)