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Wyświetlanie 1-5 z 5
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:
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
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:
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
    Wyświetlanie 1-5 z 5

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