Association between ACAT1 rs1044925 and increased hypertension risk in Tongdao Dong

Medicine (Baltimore). 2022 Dec 9;101(49):e32196. doi: 10.1097/MD.0000000000032196.

Abstract

Hypertension is a multifactorial disease that partially caused by genetic factors, including variation in genes related to lipid metabolism. ACAT1 gene is implicated in lipid metabolism for its encoding product, the enzyme acetyl-CoA acetyltransferase 1, catalyzing the synthesis of cholesteryl ester from cholesterol and playing an important role in the metabolism of cholesterol. Until now, there's little study on the relationship between ACAT1 variants and hypertension. Here, we report a link between ACAT1 rs1044925 and hypertension in Tongdao Dong population. Polymerase chain reaction-restriction fragment length polymorphism was used to detect the genotypes of the ACAT1 SNP rs1044925 in a total of 637 subjects, including 406 hypertensive patients and 231 normotensive controls. The genotypic and allelic frequencies of rs1044925 were significantly different between the normotensive and hypertensive subjects (P = .001). AC/CC genotypes of rs1044925 were associated with an increased risk of hypertension (AC/CC vs AA: adjusted odds ratio = 1.723, 95% confidence interval = 1.160-2.559, P = .007). However, the AC/CC genotypes showed no relationship with serum lipid levels. The results suggest that the C carriers of ACAT1 rs1044925 might increase the risk of hypertension in Tongdao Dong population, and the underlying mechanism needs to be further studied.

MeSH terms

  • Acetyl-CoA C-Acetyltransferase / genetics
  • Cholesterol
  • Gene Frequency
  • Genotype
  • Humans
  • Hypertension* / epidemiology
  • Hypertension* / genetics
  • Polymorphism, Single Nucleotide*

Substances

  • Cholesterol
  • ACAT1 protein, human
  • Acetyl-CoA C-Acetyltransferase