Showing papers by "Julio Benítez published in 2002"

Single nucleotide polymorphisms and microsatellite alleles of tumor necrosis factor alpha and interleukin-10 genes and the risk of advanced chronic alcoholic liver disease.

Abstract: : Background: Only a minority of ethanol abusers develop advanced chronic alcoholic liver disease (CALD). In CALD there is a disbalance between TNFα and IL-10, which may be modulated by several polymorphisms at both genetic loci. Our aim has been to elucidate the possible relation between these polymorphisms and the risk of CALD. Patients and Methods: 147 patients with advanced CALD and 355 healthy controls (all white Spaniards) were included. TNFα biallelic single nucleotide polymorphisms (SNP) at positions −238, −308, and −376 and IL-10 biallelic SNP at positions −597, − 824, and − 1087 were investigated by polymerase chain reaction (PCR) amplification and dot blot hybridization. Moreover, polymorphic microsatellites TNFa, TNFb, IL-10.R and IL-10.G were investigated in a multiplex PCR and alleles were estimated in an automatic sequencer. Results: No differences were found in the distribution of any of the studied polymorphisms, except by an excess of the haplotype formed by the allele 11 of the microsatellite IL-10.G and the GCC arrangement of the SNPs at the promoter of IL-10 gene in patients (15.7 vs. 8.24%, odds ratio: 2.08, 95% C.I. = 1.31–3.31). Conclusions: The studied polymorphisms at TNFα and IL-10 genetic loci are not clearly related to the risk of CALD. The excess of G11-GCC haplotype found in CALD patients needs independent confirmation.

N -acetyltransferase 2 single-nucleotide polymorphisms and risk of gastric carcinoma

Abstract: Objective. To explore whether an association exists between the NAT2 genotype and the risk of developing gastric cancer. Methods. Ninety-nine patients with gastric adenocarcinoma and 258 healthy subjects were analysed for single-nucleotide polymorphisms at the NAT2 gene locus, which give rise to gene variants known to be associated with slow-acetylation status. Results. The functional NAT2*4 (wild-type) allele is over-represented among patients (40.4% of all allelic variants) compared with control subjects [25.8%, odds ratio (OR) 1.95, 95% confidence interval (CI) 1.36, 2.8]. According to the NAT2 genotype, 69 patients (69.9%) and 119 healthy subjects (46%) were classified as rapid acetylators (OR 2.69, 95% CI 1.6, 4.54). Conclusions. Our results, which need independent confirmation, suggest that individuals with NAT2 genotypes leading to high levels of NAT2 enzyme activity are at increased risk of developing gastric carcinoma.