title: 1914G variant of BCHE gene associated with enzyme activity, obesity and triglyceride levels.
abstract: Polymorphisms of butyrylcholinesterase (BChE) have been reported to be associated to weight, BMI variance and hypertriglyceridemia in adults and adolescents. The aim of the present study was to investigate the association of -116A (SNP: G/A; rs1126680) and 1914G (SNP: A/G; rs3495) variants of BCHE gene with anthropometric and biochemical variables associated with obesity in population sample of 115 individuals, from Southern Brazil. Participants were grouped in two categories: obese (BMI≥30) and non-obese (BMI<30). The 1914G allele showed significantly higher frequency in the obese group, and carriers of 1914G allele showed lower mean BChE activity when compared to 1914A carriers (p=0.006). Higher means of BMI (p=0.02) and triglyceride (TG; p=0.01) were found in 1914G carriers (BMI=27.57 kg/m(2); TG=150.8 mg/dL) when compared to 1914A homozygotes (BMI=25.55 kg/m(2); TG=107.9 mg/dL). Carriers of the -116A allele showed lower mean BChE activity than usual homozygotes, and the -116A variant was found in cis with 1914G (p<0.0001; D'=1). The region of BCHE gene that contains the 1914G mutation site is target of microRNAs (miRs) and the response of BChE to glucocorticoids is especially influenced by these miRs. Therefore, it is possible that the 1914G allele can be interfering in gluconeogenesis, hyperglycemia, lipolysis and body fat distribution. This lower activity may cause an imbalance in lipid metabolism, which may lead to an increased predisposition to obesity and to a lower ability to maintain metabolic homeostasis.
authors.affiliation: Polymorphism and Linkage Laboratory, Department of Genetics, Federal University of Paraná, Brazil.
authors.forename: Jovana Karoline
authors.initials: JK
authors.lastname: Lima
authors.forename: Neiva
authors.initials: N
authors.lastname: Leite
authors.forename: Luciane Viater
authors.initials: LV
authors.lastname: Turek
authors.forename: Ricardo Lehtonen Rodrigues
authors.initials: RL
authors.lastname: Souza
authors.forename: Luciana
authors.initials: L
authors.lastname: da Silva Timossi
authors.forename: Ana Claudia Vecchi
authors.initials: AC
authors.lastname: Osiecki
authors.forename: Raul
authors.initials: R
authors.lastname: Osiecki
authors.forename: Lupe
authors.initials: L
authors.lastname: Furtado-Alle
mesh_terms: D000367:Age Factors; D015992:Body Mass Index; D001938:Brazil; D002091:Butyrylcholinesterase / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D009765:Obesity / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D014280:Triglycerides / Q000097:blood / Q000235:genetics*
chemical_list: D014280:Triglycerides; D002091:Butyrylcholinesterase
keywords: 1914G variant; 3′UTR; 3′untranslated region; BChE; BChE activity; BMI; Body mass index; C-terminal; HDL-cholesterol; LDL-cholesterol; Obesity; S.E.; SNP; TG; body mass index; butyrylcholinesterase; carboxy-terminus; high-density lipoprotein; kg/m(2); kilograms per square meter; low-density lipoprotein; miR; microRNA; nt; nucleotide; single nucleotide polymorphism; standard error; triglyceride; −116A variant