Wyniki wyszukiwania - Biblioteka Nauki

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Single nucleotide polymorphism database of candidate genes associated with cow milk protein biosynthesis

100%

Kaminski S. , Rusc A. , Malewski T.

Journal of Animal and Feed Sciences

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2004

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tom 13

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nr 1

2

A single nucleotide polymorphism rs553668 in the ADRA2A gene and the status of Polish elite endurance athletes

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Sawczuk M. , Maciejewska-Karlowska A. , Cieszczyk P.

Trends in Sport Sciences

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2013

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tom 20

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nr 1

EN

Introduction. The variance in human athletic ability is the result of interaction of both genetic and environmental factors. The ADRA2A gene that encodes adrenergic receptors α2 is likely to be a candidate gene because ADRA2A receptors are crucial for precise cardiovascular control and are involved in the regulation of adipocyte lipolysis, glucose metabolism and insulin secretion. Several genetic variants of the ADRA2A gene have been identified, and one nucleotide polymorphism (SNP) rs553668 seems to be of special importance. On the basis of results of available studies it is assumed that the C allele of rs553668 might be associated with the status of Polish elite endurance athletes. Aim of the Study. The purposes of the study were to determine the distribution of the ADRA2A rs553668 SNP genotypes within a sample of Polish elite endurance athletes and sedentary controls to investigate a possible association between genetic polymorphisms in the ADRA2A gene and elite endurance athlete status and to check for an association between the rs553668 genotypes and alleles and the athlete status. Material and Methods. The study was performed on a group of 123 elite Polish endurance-oriented athletes. Control samples were prepared from 228 unrelated, sedentary volunteers. Results. No statistical differences were found between the endurance athletes and the control group across the ADRA2A C/T genotypes. Similarly, no statistical differences among the subgroups of top-elite, elite and sub-elite endurance athletes were observed. Conclusions.We found that the C allele as well as C-containing genotypes were not significantly more frequent in endurance athletes than in controls. This may suggest that harboring the T allele of the SNP rs553668 allele does not decrease the probability of being an endurance-oriented athlete in the Polish population. In respect to the analyzed population of Polish endurance athletes the ADRA2A gene can not be considered a candidate determinant of individual variations in exercise-related phenotypes.

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Random forest assessment of correlation between environmental factors and genetic differentiation of populations : case of marine mussels Mytilus

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Kijewski T. , Zbawicka M. , Strand J. , Kautsky H. , Kotta J. , Rätsep M. , Wenne R.

Oceanologia

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2019

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tom No. 61 (1)

131--142

EN

The novelmachine learning technique Random Forest (RF) was used to test if the genetic differentiation of populations of marine species maybe related to any of the key environmental variables known to shape species distributions. The study was performed in North and Baltic Sea characterized by strong gradients of environmental factors and almost continuous distributions of Mytilus mussel populations. Assessment of the species identity was performed using four nuclear DNA markers, and previously published single nucleotide polymorphism (SNP) data. A general pattern of cline variation was observed with increasing Mytilus trossulus share towards the eastern Baltic Sea. Average allele share rose to 61% in Höga Kusten, Gulf of Bothnia. All Baltic Sea samples revealed a strong introgression of Mytilus edulis and a limited introgression of M. trossulus through the Danish Straits. The studied environmental variables described 67 and 68% of the variability in the allele frequencies of M. edulis and M. trossulus. Salinity defined over 50% of the variability in the gene frequencies of the studied Mytilus spp. populations. Changes along this environmental gradient were not gradual but instead a significant shift from gene dominance was found at a salinity of 12 PSU. Water temperature and the trophic status of the sea area had only moderate association with the gene frequencies. The obtained results showed that the novel machine learning technique can be successfully used for finding correlations between genetic differentiation of populations and environmental variables and for defining the functional form of these linkages.

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Sustained virologic response and IL28B single-nucleotide polymorphisms in patients with chronic hepatitis C treated with pegylated interferon alpha and ribavirin

80%

Jablonowska E. , Piekarska A. , Koslinska-Berkan E. , Omulecka A. , Szymanska B. , Wojcik K.

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nr 3

EN

Introduction. Hepatitis C virus (HCV) infection is a global health problem which can lead to liver cirrhosis or hepatocellular carcinoma in one-fifth of chronically infected patients. Materials and methods. The study group consisted of 123 patients: 90 with HCV mono- and 33 with HIV/HCV co-infection, who were treated with pegylated interferon alfa (Peg-IFN-α) and ribavirin. We analyzed selected pretreatment factors: age, sex, HIV/HCV co-infection, grade of inflammation, necrotic changes and fibrosis in histological analysis of liver bioptates, HCV viral load, HCV genotypes, and single nucleotide polymorphisms (SNPs) of IL28B and tried to find out which of them influence sustained virological response (SVR). The IL28B SNP C/T (rs12979860) was analyzed using Custom® SNP Genotyping Assays (Applied Biosystems). Results. Multivariate analysis demonstrated that after adjusting for the other variables three predictors independently influence SVR, namely genotype 3 of HCV, presence of the CC genotype and age >40 years (OR respectively 15.14, 3.62, and 0.36). HCV mono-infected patients were infected with HCV genotype 3 or 4 less frequently (p=0.0001) compared to HIV/HCV co-infected individuals. In patients with HIV/HCV co-infection the CC variant occurred more frequently whereas CT was found less frequently (p=0.001, p=0.0146, respectively). In patients with HIV/HCV co-infection, 3 and 4 genotype of HCV occurred more frequently compared to patients with HCV mono-infection (p=0.0001). Conclusions. These data suggest that age, HCV genotype and IL28B polymorphism are useful for prediction of the response to treatment with Peg-IFN-α and ribavirin. The more frequent occurrence of HCV genotypes 3 or 4 in patients with HIV/HCV co-infection could be associated with the route of transmission.