Effect of BCHE single nucleotide polymorphisms on lipid metabolism markers in women

• Published in: Genetics and molecular biology Vol. 40; no. 2; pp. 408 - 414
• Main Authors: Oliveira, Jéssica de, Tureck, Luciane Viater, Santos, Willian Dos, Saliba, Louise Farah, Schenknecht, Caroline Schovanz, Scaraboto, Débora, Souza, Ricardo Lehtonen R, Furtado-Alle, Lupe
• Format: Journal Article
• Language: English
• Published: Brazil Sociedade Brasileira de Genetica 01-04-2017; Sociedade Brasileira de Genética
• Subjects: Alleles; BCHE gene; BIOCHEMISTRY & MOLECULAR BIOLOGY; Body mass; Body mass index; Body size; Cholesterol; Energy balance; Enzymatic activity; Gene frequency; GENETICS & HEREDITY; Genotyping; High density lipoprotein; Homeostasis; Human and Medical Genetics; Lipid metabolism; Low density lipoprotein; Markers; Metabolism; Obesity; Plasma levels; Polymorphism; polymorphisms; Single-nucleotide polymorphism; Substrates; BCHE gene; polymorphisms; obesity; lipid metabolism
• ISSN: 1415-4757; 1678-4685; 1678-4685
• DOI: 10.1590/1678-4685-GMB-2016-0123

Butyrylcholinesterase (BChE) activity and polymorphisms in its encoding gene had previously been associated with metabolic traits of obesity. This study investigated the association of three single nucleotide polymorphisms (SNPs) in the BCHE gene: -116G > A (rs1126680), 1615GA (rs1803274), 1914A < G (rs3495), with obesity and lipid metabolism markers, body mass index (BMI), total cholesterol (TC), low density lipoprotein cholesterol (LDL-C), high density lipoprotein cholesterol (HDL-C), triglyceride (TG) levels, and BChE enzymatic activity in obese (BMI≥30/n = 226) and non-obese women (BMI < 25/n = 81). BCHE SNPs genotyping was obtained by TaqMan allelic discrimination assay and by RFLP-PCR. Plasmatic BChE activity was measured using propionylthiocholine as substrate. Similar allele frequencies were found in obese and non-obese women for the three studied SNPs (p > 0.05). The dominant and recessive models were tested, and different effects were found. The -116A allele showed a dominant effect in BChE activity reduction in both non-obese and obese women (p = 0.045 and p < 0.001, respectively). The 1914A > G and 1615GA SNPs influenced the TG levels only in obese women. The 1914G and the 1615A alleles were associated with decreased plasma levels of TG. Thus, our results suggest that the obesity condition, characterized by loss of energy homeostasis, is modulated by BCHE polymorphisms.