INVESTIGADORES
CASTILLA LOZANO Maria Del Rocio
congresos y reuniones científicas
Título:
ASSOCIATION BETWEEN GENE EARLY B-CELL FACTOR 1 (EBF1) RS4704963 SNP AND CARDIOVASCULAR RISK FACTORS
Autor/es:
DUARTE, ALEJANDRA; PRINCIPATO, MARIO; VON WOULFFEN, MARÍA ALEJANDRA; CIAMPI, NATALIA; KOLLIKER FRES, RODOLFO; CARBAJALES, JUSTO; CASTILLA, ROCÍO
Lugar:
Buenos Aires
Reunión:
Congreso; Reunión Conjunta de Sociedades de Biociencias; 2017
Institución organizadora:
Sociedad Argentina de Investigación Clínica
Resumen:
High bloodpressure (HBP), obesity, smoking and type II diabetes (DBT) are cardiovascularrisk factors (CRFs) in which genetic susceptibility plays an important role.Transcriptionfactor early B-cell factor 1 (EBF1) is expressed in adipocytes and olfactoryneuroepithelium, and participates in immune system development, adipogenesisand insulin resistance. The presence of the single nucleotid polymorphism (SNP)rs4704963: T<C in the EBF1 gene has been associated with early onset ofcoronary disease and a higher incidence of central obesity in patientssuffering stress.Ourobjective was to study the relationship between the presence of the SNPrs4704963 of EBF1 gene and the above-mentioned CRFs in patients with multipleCRFs with or without acute myocardial infarction (AMI).To this end,104 patients having two or more CRFs were evaluated. Characteristics of thepopulation: mean age 59 years, 60.6% male, 63.5% with AMI, 36.5% with CRFswithout AMI, 51% diabetic, 57.7% hypertensive and 59.6% smokers. Genotyping wasperformed on DNA obtained from blood samples of patients through nested PCRtechnique and subsequent sequencing. Statistical test CHI2 and logistic regression(OR) were done.Results: The SNP rs4704963 was present in 16.3% patients in the heterozygous T/Cand none in the homozygous C/C haplotype.Consideringthe dominant genetic model, no correlation was detected between the SNP presenceand AMI occurrence.In ourpopulation, neither HBP, waist diameter nor DBT correlated with the developmentof AMI, although obesity increase measured by BMI (p<0.05) and smoking(p<0.05) did positively correlate.The presenceof the SNP did not correlate with an increase in BMI, waist diameter, DBT or HBP,but a significant correlation (p<0.05) was found with smoking.Conclusion:The presence of SNP rs4704963: T<C in the EBF1 geneis not related to the development of obesity, DBT, and HBP, but it can be apredisposing factor for smoking.