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Wyszukujesz frazę "genetic predisposition" wg kryterium: Temat

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    Wyświetlanie 1-5 z 5
    Tytuł:
    Cystic fibrosis is a risk factor for celiac disease
    Autorzy:
    Walkowiak, Jarosław
    Blask-Osipa, Anna
    Lisowska, Aleksandra
    Oralewska, Beata
    Pogorzelski, Andrzej
    Cichy, Wojciech
    Sapiejka, Ewa
    Kowalska, Mirosława
    Korzon, Michał
    Szaflarska-Popławska, Anna
    Powiązania:
    https://bibliotekanauki.pl/articles/1040437.pdf
    Data publikacji:
    2010
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    cystic fibrosis
    celiac disease
    antiendomysial antibodies
    genetic predisposition
    Opis:
    Background: The coexistence of cystic fibrosis (CF) and celiac disease (CD) has been reported. To our knowledge there is no study directly comparing the incidence of CD in CF patients to that in the general population at the same time. There is no published data on genetic predisposition to CD in CF patients either. Therefore, in the present study we aimed to assess the genetic predisposition to CD and its incidence in CF patients comparing it to data from the general population. Patients and methods: Two hundred eighty-two CF patients were enrolled in the study. In 230 CF patients the genetic predisposition to CD (the presence of HLA-DQ2/ DQ8) was assessed. In all CF patients, serological screening for CD was conducted. In patients with positive antiendomysial antibodies (EMA) gastroduenoscopy was offered. Intestinal histology was classified according to modified Marsh criteria. The results of serological CD screening in 3235 Polish schoolchildren and HLA-DQ typing in 200 healthy subjects (HS) were used for comparison. Results: Positive EMA was found in 2.84% of the studied CF patients. The incidence of proven CD was 2.13%. The incidence of CD as well as positive serological screening were significantly more frequent in the CF group than in the general population. The frequency of CD-related HLA-DQ alleles in CF and HS did not differ. Conclusions: Genetic predisposition to celiac disease in cystic fibrosis patients is similar to that of the general population. However, our results suggest that cystic fibrosis is a risk factor for celiac disease development.
    Źródło:
    Acta Biochimica Polonica; 2010, 57, 1; 115-118
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Adult-type hypolactasia and lactose malabsorption in Poland
    Autorzy:
    Mądry, Edyta
    Lisowska, Aleksandra
    Kwiecień, Jarosław
    Marciniak, Ryszard
    Korzon-Burakowska, Anna
    Drzymała-Czyż, Sławomira
    Mojs, Ewa
    Walkowiak, Jarosław
    Powiązania:
    https://bibliotekanauki.pl/articles/1042735.pdf
    Data publikacji:
    2010
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    lactose malabsorption
    hypolactasia
    genetic predisposition
    lactose intolerance
    Opis:
    Background: The available data on the incidence of lactose malabsorption are contradictory. Potential bias in random selection is a major drawback of studies performed to-date. Moreover, molecular analysis of polymorphism -13910 C>T upstream of the lactase (LCT) gene (NM_005915.4:c.1917+326C>T; rs4988235) has not been reported in those studies. Therefore, in this study we aimed to assess genetic predisposition and clinical manifestation of adult-type hypolactasia (ATH). Patients and methods: In two-hundred randomly chosen healthy subjects (HS) aged from 18 to 20 years, the presence of -13910 C>T polymorphic variants upstream of the LCT gene was assessed. In a subgroup of subjects with genotype predisposing to ATH, hydrogen-methane breath test (BT) with lactose loading was conducted to determine the current state of lactase activity. In addition, clinical symptoms typical for lactose malabsorption were assessed using the questionnaire method. Results: Sixty-three out of 200 (31.5 %) HS had -13910 C/C genotype. Thus, genetically determined lactase persistence is expected in the remaining 137 (68.5 %) subjects. Thirteen out of 53 (24.5 %) HS having -13910 C/C genotype were proved to be lactose intolerant. Recalculating the data for the entire studied population it implies the incidence of lactose malabsorption in 7.7 % of subjects. Only three out of 13 (23.1 %) subjects with abnormal BT results, reported clinical symptoms related to lactose consumption. Conclusions: Significantly lower than previously reported incidence of clinically detectable lactose malabsorption in young healthy adults in Poland has been documented. The -13910 C/C genotype upstream of the LCT gene indicates a predisposition to ATH, but definitely does not define the current ability to tolerate lactose.
    Źródło:
    Acta Biochimica Polonica; 2010, 57, 4; 585-588
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Genetic predisposition to breast and/or ovarian cancer – focus on the candidate BARD1 gene
    Autorzy:
    Klonowska, K.
    Ratajska, M.
    Wojciechowska, M.
    Kozlowski, P.
    Powiązania:
    https://bibliotekanauki.pl/articles/80894.pdf
    Data publikacji:
    2014
    Wydawca:
    Polska Akademia Nauk. Czytelnia Czasopism PAN
    Tematy:
    breast cancer
    ovarian cancer
    genetic predisposition
    BRCA1 gene
    structure
    function
    BARD1 gene
    Źródło:
    BioTechnologia. Journal of Biotechnology Computational Biology and Bionanotechnology; 2014, 95, 3
    0860-7796
    Pojawia się w:
    BioTechnologia. Journal of Biotechnology Computational Biology and Bionanotechnology
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Association of XRCC6 C1310G and LIG4 T9I polymorphisms of NHEJ DNA repair pathway with risk of colorectal cancer in the Polish population
    Autorzy:
    Balinska, Kinga
    Wilk, Damian
    Filipek, Beata
    Mik, Michal
    Zelga, Piotr
    Skubel, Pawel
    Dziki, Łukasz
    Dziki, Adam
    Mucha, Bartosz
    Kabziński, Jacek
    Majsterek, Ireneusz
    Powiązania:
    https://bibliotekanauki.pl/articles/1391955.pdf
    Data publikacji:
    2019
    Wydawca:
    Index Copernicus International
    Tematy:
    Colorectal Neoplasms/genetics
    DNA-Binding Proteins/genetics
    Genetic Predisposition to Disease/genetics
    Genotype
    Polymorphism
    Single Nucleotide
    Opis:
    Introduction: Colorectal cancer is the second most common cancer worldwide. DNA double strand breaks (DSBs) are the most dangerous lesions which can lead to carcinogenesis. Nonhomologous end joining (NHEJ) is an important pathway, that allows for recovering DNA by direct end joining. The XRCC6 and LIG4 genes encode respectively Ku70 protein and human ATP-dependent DNA ligase, which are the components of the NHEJ repair pathway. The aim of our study was to evaluate the influence of XRCC6 C1310G and LIG4 T9I genes polymorphisms on colorectal cancer risk among Polish population. Materials and method: Genotyping was performed using TaqMan probes based on analysis of PCR products amplified in Real Time PCR. The research has been carried out on the material obtained from 100 patients with colorectal cancer and 100 cancer-free individuals who were age and sex-matched as a control group. The results were developed using the chi – squer test and odds ratio (OR). Results: Odd ratio analysis indicates reduced risk of colorectal cancer for LIG4 T9I polymorphism in heterozygotus model C/T (OR= 0.2717 95% CI= 0.1247-0,5918) and homozygous model T/T (OR= 0.3593 95% CI= 0.1394-0.9266). Similar situation we observed for XRCC6 C1310G gene polymorphism, which indicated on heterozygotus variant C/G (OR= 0.1181 95% CI= 0.0145-0.964) and homozygotus variant G/G (OR= 0.0972 95% CI= 0.0097-0.9713) to decrease the risk of colorectal cancer. Conslusions: Our research revealed XRCC6 C1310G and LIG4 T9I polymorphisms are associated with diminished risk of colorectal cancer. However, to confirm obtained results, a further investigations should be carried out.
    Źródło:
    Polish Journal of Surgery; 2019, 91, 3; 15-20
    0032-373X
    2299-2847
    Pojawia się w:
    Polish Journal of Surgery
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Characteristic of morphological changes of the spine in selected mammal species
    Charakterystyka zmian morfologicznych kręgosłupa wybranych gatunków ssaków
    Autorzy:
    Jundziłł-Bogusiewicz, P.
    Gruszczyńska, J.
    Shuvar, I.
    Papis, K.
    Powiązania:
    https://bibliotekanauki.pl/articles/3133655.pdf
    Data publikacji:
    2021
    Wydawca:
    Zachodniopomorski Uniwersytet Technologiczny w Szczecinie. Wydawnictwo Uczelniane ZUT w Szczecinie
    Tematy:
    mammal
    humans
    dog
    spine
    degenerative change
    congenital defect
    inflammatory disease
    proliferative process
    genetic predisposition
    morphological change
    SLC35A3 gene
    Źródło:
    Acta Scientiarum Polonorum. Zootechnica; 2021, 20, 3; 77-84
    1644-0714
    Pojawia się w:
    Acta Scientiarum Polonorum. Zootechnica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
      Wyświetlanie 1-5 z 5

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