Relación de los fenotipos acetiladores del gen Nat2 con la injuria hepática inducida por fármacos antituberculosos en pacientes peruanos Universidad de San Martín de Porres 2016-2017
Laymito Chumbimuni, Lina Rocío
MetadataShow full item record
Objective: Relate the acetylating phenotypes of NAT2 gene with liver injury induced by anti-tuberculosis drugs (IHIMA) in Peruvian patients. Methodology: Tuberculosis patients with and without liver injury (30 in each group) were evaluated according to the Drug-Induced Liver Injury Network (DILIN) criteria. Molecular techniques such as RFLP, Sanger Sequencing, NGS (Target sequencing and Exome sequencing) were used to record genotypes and alleles of the genetic variants of the gene. Bioinformatic analysis included annotation of new and known genetic variants with various clinical prediction tools using the VarScan, VEP, SnpEff and SnpSift programs. Results: Variants rs1799929, rs1799930 and rs1799931 were evaluated to define acetylating phenotypes of NAT2 gene, finding non-significant differences between the IHIMA group (SA = 43%, IA = 43% and RA = 14%) and Non-IHIMA (SA = 40%, IA = 56% and RA = 4%) with an OR 1.14 95% CI [0.41-3.2] p = 0.7934. Four new variants were also found that are not related to IHIMA. Conclusion: There is no relationship between the acetylating phenotypes of NAT2 gene with liver injury induced by antituberculous drugs (IHIMA) in this sample of Peruvian patients, however, it is important to highlight that the slow and intermediate NAT2 acetylating phenotypes have an average frequency in both IHIMA and No-IHIMA groups.
- Tesis de maestría