title: Assessment of the frequency of the transforming growth factor beta-1 sequence polymorphisms in patients with alcohol dependence syndrome.
abstract: Alcohol abuse is one of the most significant factors in the development of liver fibrosis. The pathomechanism of liver fibrosis is the same regardless of its etiology. Fibrosis is a sign of an imbalance between the synthesis of the extracellular matrix components and their degradation. Among the many cytokines that affect hepatic stellate cell activation it seems that transforming growth factor beta (TGF-β) is the most significant, either as the direct factor stimulating polymerase chain reaction (HSC) proliferation and transformation into myofibroblasts, or as the direct factor causing an increase in the activity of genes responsible for the synthesis of extracellular matrix components. The aim of the study was to reveal possible dependencies and differences between the presence of certain alleles of the TGF-β1 gene and its blood level in the study and control group. Blood samples were obtained from 39 patients, the control group consisted of 21 patients. The results obtained in the course of this study showed no statistically significant differences between the frequencies of particular polymorphisms. In the case of haplotype frequencies, insignificant differences were found for the algorithm Excoffier-Laval-Balding predicted haplotypes while one significant difference between the study and control groups was detected in case of the TC haplotype frequency predicted using the Expectation-Maximization algorithm. However, the difference in frequency of TC haplotype predicted by both algorithms was not significant. Genetic analysis of two single nucleotide polymorphisms (SNPs) in exon I of the TGF-β1 gene did not show significant differences between the occurrence of particular polymorphisms and haplotypes in the populations under study.
authors.affiliation: Chair and Department of Biochemistry, Nicolaus Copernicus University, L. Rydygier Collegium Medicum in Bydgoszcz, Bydgoszcz, Poland.
authors.forename: Beata
authors.initials: B
authors.lastname: Augustyńska
authors.affiliation: Chair and Clinic of Psychiatry, Nicolaus Copernicus University, L. Rydygier Collegium Medicum in Bydgoszcz, Bydgoszcz, Poland.
authors.forename: Aleksander
authors.initials: A
authors.lastname: Araszkiewicz
authors.affiliation: Department of Molecular Genetics and Court, Nicolaus Copernicus University, L. Rydygier Collegium Medicum in Bydgoszcz, Bydgoszcz, Poland.
authors.forename: Marcin
authors.initials: M
authors.lastname: Woźniak
authors.affiliation: Department of Molecular Genetics and Court, Nicolaus Copernicus University, L. Rydygier Collegium Medicum in Bydgoszcz, Bydgoszcz, Poland.
authors.forename: Tomasz
authors.initials: T
authors.lastname: Grzybowski
authors.affiliation: Department of Molecular Genetics and Court, Nicolaus Copernicus University, L. Rydygier Collegium Medicum in Bydgoszcz, Bydgoszcz, Poland.
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Skonieczna
authors.affiliation: Department of Medical Biology, Nicolaus Copernicus University, L. Rydygier Collegium Medicum in Bydgoszcz, Bydgoszcz, Poland.
authors.forename: Alina
authors.initials: A
authors.lastname: Woźniak
authors.affiliation: Chair and Department of Biochemistry, Nicolaus Copernicus University, L. Rydygier Collegium Medicum in Bydgoszcz, Bydgoszcz, Poland.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Żyła
mesh_terms: D000437:Alcoholism / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D053773:Transforming Growth Factor beta1 / Q000235:genetics*
chemical_list: D053773:Transforming Growth Factor beta1