Scientific Reports (Jul 2021)

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

  • Bing bing Chen,
  • Jian hui Yan,
  • Jing Zheng,
  • He wei Peng,
  • Xiao ling Cai,
  • Xin ting Pan,
  • Hui quan Li,
  • Qi zhu Hong,
  • Xian-E Peng

DOI
https://doi.org/10.1038/s41598-021-93549-2
Journal volume & issue
Vol. 11, no. 1
pp. 1 – 9

Abstract

Read online

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) 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.