Work

P-19 Association of Tm6sf2 Gene Polymorphisms With Cardiovascular Risk in Patients With Metabolic Dysfunction–associated Steatotic Liver Disease (masld) in a Hispanic Adult Population

Year: 2024

Type: article

Abstract: Conflict of interest No Introduction and Objectives Genes that influence lipids have led to the discovery of a non-synonymous variant (rs58542926) located in the TM6SF2 gene (transmembrane 6 member of superfamily 2) that is associated not only with the serum lipid levels, including serum total cholesterol, low-density cholesterol (LDL-C), and triglycerides, but also the risk of cardiovascular disease. The Dallas Heart Study reported that rs58542926 is associated with hepatic fatty infiltration. Objective: To establish the frequency of the C> T polymorphism in the TM6SF2 gene (rs58542926). Patients / Materials and Methods A multistage random sample was drawn from an inpatient population between 40 and 70 years of age. We analyzed the DNA of thirty-five (35) patients. Genomic DNA was extracted from peripheral blood leukocytes. For genotyping of SNP rs58542926, the following pair of primers was used: forward = 5′- GGT CTT GGC ACA AAT CCG GT-3′ and reverse = 5′- AAG AGA AAT TGG CAG CTG GA-3′. Results and Discussion The frequency of the minor allele T (KK) was 0.000 and the frequency of the ancestral allele C (EE) was 1.0000; These frequencies were similar to those observed in a frequency report from the 1000 genomes project (http://browser.1000genomes.org/). The association with fatty liver infiltration may be due to the founder effect, genetic drift, or possibly population inbreeding. In addition, it could be a selective disadvantage compared to other pathologies such as fatty liver. Conclusions The results for the C/C and C/T genotypes studied are like those of other previous studies. The presence of the ancestral C allele (EE) in 100% of the patients suggests a probable genetic deviation or founder effect, probably increasing the frequency of this allele over the other existing alleles.

Source: Annals of Hepatology

DOI: 10.1016/j.aohep.2024.101633

Authors: LUISA FERNANDA SANTOS CUERVO, Maria Claudia Noguera Santamaria, Carlos Andres Ortiz Trujillo, Fernando Suarez Obando, Adriana Varon Puerta

Institutions: Universidad Nacional de Colombia, Pontificia Universidad Javeriana

Language: English

Topic: Liver Disease Diagnosis and Treatment

Subfield: Epidemiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,500