Search results

1

GENETIC RESEARCH IN MODERN SPORT

100%

Leońska-Duniec A.

Central European Journal of Sport Sciences and Medicine

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2013

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vol. 3

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issue 3

19-26

EN

Sport genomics is a comparatively new scientific discipline concentrating on the organization and functioning of the genome of elite athletes. It seems to be the most promising tool for sport selection, individualization of the training process, sport traumatology, and also in illegal ‘gene doping’. With genotyping more available, research of gene variants’ influence on several phenotype traits related to physical performance have been widely carried out worldwide. This review not only summarizes the current findings of sport genomics study of molecular markers, their association with athlete status and training responses, but it also explores future trends and possibilities. The importance of genetics in modern sport increases every year. However, the recent studies still represent only the first steps towards a better understanding of the genetic factors that influence human physical abilities, and therefore continuing studies are necessary.

2

Association between uridin diphosphate glucuronosylotransferase 1A1 (UGT1A1) gene polymorphism and neonatal hyperbilirubinemia

100%

Mazur-Kominek K., Romanowski T., Bielawski K., Kiełbratowska B., Preis K., Domżalska-Popadiuk I., Słomińska-Frączek M., Sznurkowska K., Renke J., Plata-Nazar K., Śledzińska K., Sikorska-Wiśniewska G., Góra-Gębka M., Liberek A.

Acta Biochimica Polonica

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2017

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vol. 64

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issue 2

351-356

EN

Objective: To assess the prevalence of UGT1A1*28 and UGT1A1*60 polymorphisms of UGT1A1 gene and their association with hyperbilirubinemia. Study design: The study was performed at a single centre - at the Department of Obstetrics of the Medical University of Gdansk in Poland. DNA was isolated from Guthrie cards of 171 infants. Only full term newborns (gestational age 38-42 weeks) were included in the study. Fluorescent molecular probes were used for UGT1A1 promoter variation analysis. The presence of UGT1A1*28 polymorphism was detected with a dual-probe system, and UGT1A1*60 with a SimpleProbe™. Result: Homozygous UGT1A1*28 and UGT1A1*60 genotypes were detected in 14.6% and 20.5% of the newborns, respectively. Homozygous (G/G) genotypes of UGT1A1*60 polymorphism were found in all of the UGT1A1*28 (i.e. (TA)7/(TA)7) homozygotes. More than 80% (55/66) of the children with "wild" type UGT1A1*28 genotype (where no polymorphism was detected) (i.e. (TA)6/(TA)6) carried the "wild" (T/T) genotype of UGT1A1*60 as well. The UGT1A1*28 polymorphism was detected more often among neonates with elevated bilirubin. Hyperbilirubinemia was diagnosed more frequently in boys. Conclusion: Polymorphisms of the UGT1A1 gene frequently co-exist in neonates. The presence of UGT1A1*28 polymorphism and male gender seem to predispose to neonatal hyperbilirubinemia.

3

Intra-strains diversity of expression of polymorphic PKS4 gene in comparison in zearalenone production by Fusarium graminearum during in vitro cultivation

100%

Misiewicz A., Goncerzewicz A., Jędrzejczak R., Zdziennicki F.

Acta Biochimica Polonica

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2016

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vol. 63

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issue 1

97-102

EN

Filamentous fungi belonging to the Fusarium genus are responsible for large economic losses due to their high pathogenicity and toxigenicity. Fusarium sp. may produce variety of mycotoxins, one of them is zearalenone (ZEA). The presence of the PKS4 gene shows the possibility of zearalenone biosynthesis by Fusarium sp. In this study, in four Fusarium graminearum and one Fusarium poae strains the presence of PKS4 genes and ZEA concentrations were determined. The presence of the PKS4 gene was confirmed by classical polymerase chain reaction (PCR) in three of four strains of F. graminearum. One strain with no PKS4 gene detected was found while still producing ZEA. In the present study, a real-time PCR assay has been successfully performed for the relative expression of Fusarium strains based on new designed primers targeting the PKS4 gene involved in ZEA biosynthesis. Result shows that P56/4 strain of F. graminearum has the highest mRNA level, in the range of 12, what correlates to the high production of this mycotoxin. In this study, a real-time PCR assay has been successfully developed for the prediction of the production of ZEA by F. graminearum strains by PCR real-time techniques based on primers targeting the gene, PKS4, involved in ZEA biosynthesis. The special significance was pointed to occurring genes polymorphism.

4

THE GSTP1 c.313A>G POLYMORPHISM MODULATES THE CARDIORESPIRATORY RESPONSE TO AEROBIC TRAINING

100%

Zarebska A., Jastrzebski Z., Kaczmarczyk M., Ficek K., Maciejewska-Karlowska A., Sawczuk M., Leońska-Duniec A., Krol P., Cieszczyk P., Zmijewski P., Eynon N.

Biology of Sport

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2014

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vol. 31

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issue 4

261-266

EN

TThe GSTP1 c.313A>G polymorphism is a candidate to explain some of the individual differences in cardiorespiratory fitness phenotypes’ responses to aerobic exercise training. We aim to explore the association between the GSTP1 c.313A>G polymorphism and the response to low-high impact aerobic exercise training. Sixty-six Polish Caucasian women were genotyped for the GSTP1 c.313A>G polymorphism; 62 of them completed 12-week aerobic (50-75% HR max ) exercise training and were measured for selected somatic features (body mass and BMI) and cardiorespiratory fitness indices – maximal oxygen uptake (VO 2max , maximum heart rate (HR max ), maximum ventilation (V E max ) and anaerobic threshold (AT) – before and after the training period. Two-factor analysis of variance revealed a main training effect for body mass reduction (p=0.007) and BMI reduction (p=0.013), improvements of absolute and relative VO 2max (both p<0.001), and increased V E max (p=0.005), but not for changes in fat-free mass (FFM) (p=0.162). However, a significant training x GSTP1 c.313A>G interaction was found only for FFM (p=0.042), absolute and relative VO 2max (p=0.029 and p=0.026), and V E max (p=0.005). As the result of training, significantly greater improvements in VO 2max , V E max and FFM were gained by the GG+GA group compared to the AA genotype group. The results support the hypothesis that heterogeneity in individual response to training stimuli is at least in part determined by genetics, and GSTP1 c.313A>G may be considered as one (of what appear to be many) target polymorphisms to influence these changes.

5

Lack of correlation between X region spa polymorphism and virulence of methicillin resistant and methicillin sensitive Staphylococcus aureus strains

100%

Kurlenda J., Grinholc M., Szweda P.

Acta Biochimica Polonica

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2010

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vol. 57

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issue 1

135-138

EN

Staphylococcus aureus is an etiological factor of severe infections in both hospital and ambulatory environments. As methicillin resistant Staphylococcus aureus strains spread quickly across healthcare centers resulting in life-threatening infections with increased mortality, they are considered more virulent than MSSA strains. Protein A, encoded by the spa gene, is one of the virulence factors involved in the staphylococcal pathogenesis. It has been suggested that the number of 24-bp tandem repeat units along the X region of the spa gene correlates with the virulence level of the strains. The current work analyzed the relationships between the virulence of MRSA and MSSA strains with region X polymorphism. No obvious correlation was observed.

6

Lack of Association Between the 135G/CRad51Gene Polymorphism and the Risk of Colorectal Cancer Among Polish Population

100%

Mucha B., Przybyłowska-Sygut K., Dziki Ł., Dziki A., Sygut A., Majsterek I.

Polish Journal of Surgery

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2012

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vol. 84

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issue 7

358-362

EN

One of the major causes of carcinogenesis is loss of genome stability. RAD51 in process of homologous recombination (HR) played crucial role in maintenance integrity of genome through initiate of DNA double strand breaks repair. Presence of single nucleotide polymorphism (SNP) in RAD51 gene could change the capacity of DNA repair and altered the response to damaging agents. Research on potential impact of genetic variability on development and progression CRC may contribute to setting new genetic markers or/and determined individual susceptibility to CRC.The aim of the study. This study was designed to evaluate the effect of 135 G/C (rs1801320) RAD51 polymorphism located in the 5' untraslated region on the risk and progression of CRC.Material and methods. The subjects consisted of histologically confirmed colorectal cancer (n = 200) and controls (n = 200) with lack of previous history of cancer. The distribution of genotypes was determined by restriction fragment length polymorphism PCR (RFLP - PCR). Statistical analysis was based on multivariate regression model.Results and conclusion. Our study reveal no significance association of 135 G/C RAD51 polymorphism with occurrence and progression of colorectal cancer.

7

Association of the DIO2 gene single nucleotide polymorphisms with recurrent depressive disorder

100%

Gałecka E., Talarowska M., Orzechowska A., Górski P., Bieńkiewicz M., Szemraj J.

Acta Biochimica Polonica

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2015

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vol. 62

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issue 2

297-302

EN

Genetic factors may play a role in the etiology of depressive disorder. The type 2 iodothyronine deiodinase gene (DIO2) encoding the enzyme catalyzing the conversion of T4 to T3 is suggested to play a role in the recurrent depressive disorder (rDD). The current study investigates whether a specific single nucleotide polymorphism (SNP) of the DIO2 gene, Thr92Ala (T/C); rs 225014 or ORFa-Gly3Asp (C/T); rs 12885300, correlate with the risk for recurrent depression. Genotypes for these two single nucleotide polymorphisms (SNPs) were determined in 179 patients meeting the ICD-10 criteria for rDD group and in 152 healthy individuals (control group) using a polymerase chain reaction (PCR) based method. The specific variant of the DIO2 gene, namely the CC genotype of the Thr92Ala polymorphism, was more frequently found in healthy subjects than in patients with depression, what suggests that it could potentially serve as a marker of a lower risk for recurrent depressive disorder. The distribution of four haplotypes was also significantly different between the two study groups with the TC (Thr-Gly) haplotype more frequently detected in patients with depression. In conclusion, data generated from this study suggest for the first time that DIO2 gene may play a role in the etiology of the disease, and thus should be further investigated.

8

Expression and polymorphism of defensins in farm animals

100%

Bagnicka E., Strzałkowska N., Jóźwik A., Krzyżewski J., Horbańczuk J., Zwierzchowski L.

Acta Biochimica Polonica

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2010

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vol. 57

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issue 4

487-497

EN

Due to their activity against bacteria, viruses, and fungi, antimicrobial peptides are important factors in the innate resistance system of humans and animals. They are called "new generation antibiotics" for their potential use in preventive and therapeutic medicine. The most numerous group of antimicrobial peptides is a family of cationic peptides which include defensins and cathelicidins. Among them the most common are peptides with a beta-sheet structure containing three intra-molecular disulphide bonds, called defensins, comprising three classes: alpha, beta, and theta. The class of beta-defensins is the largest one. Their transcripts have been found in many tissues of humans and animals. The aim of this paper is to present the current knowledge about antimicrobial peptides from the defensin family in farm animals, their expression, polymorphism, as well as the potential of their use as genetic markers of health and production traits.

9

Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or III

88%

Augusciak-Duma A., Witecka J., Sieron A., Janeczko M., Pietrzyk J., Ochman K., Galicka A., Borszewska-Kornacka M., Pilch J., Jakubowska-Pietkiewicz E.

Acta Biochimica Polonica

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2018

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vol. 65

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issue 1

79-86

EN

Although over 85% of osteogenesis imperfecta (OI) cases are associated with mutations in the procollagen type I genes (COL1A1 or COL1A2), no hot spots for the mutations were associated with particular clinical phenotypes. Eight patients that were studied here, diagnosed with OI by clinical standards, are from the Polish population with no ethnic background indicated. Previously unpublished mutations were found in six out of those eight patients. Genotypes for polymorphisms (Sp1 - rs1800012 and PvuII - rs412777), linked to bone formation and metabolism were determined. Mutations were found in exons 2, 22, 50 and in introns 13 and 51 of the COL1A1 gene. In COL1A2, one mutation was identified in exon 22. Deletion type mutations in COL1A1 that resulted in OI type I had no effect on collagen type I secretion, nor on its intracellular accumulation. Also, a single base substitution in I13 (c.904-9 G>T) was associated with the OI type I. The OI type III was associated with a single base change in I51 of COL1A1, possibly causing an exon skipping. Also, a missense mutation in COL1A2 changing Gly→Cys in the central part of the triple helical domain of the collagen type I molecule caused OI type III. It affected secretion of the heterotrimeric form of procollagen type I. However, no intracellular accumulation of procollagen chains could be detected. Mutation in COL1A2 affected its incorporation into procollagen type I. The results obtained shall help in genetic counseling of OI patients and provide a rational support for making informed, life important decisions by them and their families.

10

Genetic diversity in populations of Slovak Spotted cattle based on single nucleotide polymorphisms analyses

88%

Moravčíková N., Trakovická A., Navrátilová A.

Acta Biochimica Polonica

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2013

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vol. 60

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issue 4

807-810

EN

The aim of this study was to identify SNPs in leptin (LEP), leptin receptor (LEPR) and growth hormone (GH) genes in order to analyze genetic diversity of Slovak Spotted cattle. The total numbers of blood samples were taken from 353 Slovak Spotted cows originating from four farms. Genomic DNA was isolated by phenol-chloroform extraction method and analyzed by PCR-RFLP method. After digestion with restriction, enzymes were detected in whole population of cow's alleles with frequency: LEP/Sau3AI A 0.84 and B 0.16 (±0.0152); LEPR/BseGI C 0.95 and T 0.05 (±0.0089) and GH/AluI L 0.70 and V 0.30 (±0.0188). Based on the observed vs. expected genotypes frequencies populations across loci were in Hardy-Weinberg equilibrium (P\>0.05). Predominant for SNP LEP/Sau3AI was AA genotype (0.70), for SNP LEPR/T945M CC genotype (0.91), and LL genotype (0.48) was most frequent for SNP GH/AluI. The observed heterozygosity of SNPs across populations was also transferred to the low or median polymorphic information content 0.24 (He 0.28), 0.08 (He 0.09) and 0.33 (He 0.47) for LEP, LEPR and GH genes, respectively. Within genetic variability estimating negative values of fixation indexes FIS (-0.09-0.05) and FIT (-0.07-0.03) indicating heterozygote excess were observed. The value of FST indexes (0.018-0.023) shows very low levels of genetic differentiation in allele frequencies of loci among evaluated subpopulations. The low values of genetic distances (0.0018-0.0159) indicated high genetic relatedness among animals in subpopulations caused probably by common ancestry used in breeding program at farms.

11

The importance of platelet phosphofructokinase (PFKP) rs6602024 polymorphism in pathogenesis of obesity

88%

Woźny Ł., Danikiewicz M., Stefanowicz M., Wojtas E., Gola M., Śnit M., Grzeszczak W.

Annales Academiae Medicae Silesiensis

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2017

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vol. 71

173-182

EN

OBJECTIVE: The aim of the study was to demonstrate the potential relationship between overweight and obesity and the platelet phosphofructokinase (PFKP) rs6602024 polymorphism in patients reporting to a general practitioner at a primary care outpatient clinic. MATERIAL AND METHODS: The study included a total of 438 patients from Southern Poland who reported to the general primary care outpatient clinic. PFKP rs6602024 polymorphism genotyping was conducted using fluorescence-labelled probes. The Statistica 8.0 program was used to calculate individual parameters. RESULTS: Certain metabolic disorders were shown in overweight and obese people, as well as in the whole group of overweight or obese subjects. The results were compared with the outcomes obtained from people who were not overweight or obese. There were no statistically significant differences in the distribution of PFKP rs6602024 polymorphism genotypes and alleles between the study and control group. The control group showed a statistically significant difference in allele distribution between men and women. Among women, a statistically significant difference was found in the distribution of G/A alleles between the controls and overweight people as well as those overweight and obese altogether. CONCLUSIONS: 1. Overweight and obesity are very common in people reporting to the primary care outpatient clinic. 2. The presence of PFKP rs6602024 polymorphism allele A in women is associated with an increased risk of being overweight and obese.

PL

CEL PRACY: Celem pracy było wykazanie potencjalnego związku między występowaniem nadwagi i otyłości a polimorfizmem rs6602024 genu fosfofruktokinazy płytkowej (PFKP) u kolejnych pacjentów zgłaszających się do lekarza pierwszego kontaktu w POZ. MATERIAŁ I METODY: Badaniem objęto łącznie kolejnych 438 pacjentów z rejonu Polski południowej, którzy zgłaszali się do poradni ogólnej POZ. Genotypowanie polimorfizmu genu PFKP rs6602024 prowadzono z wykorzystaniem znakowanych fluorescencyjnie sond. Do obliczeń poszczególnych parametrów w ujęciu statystycznym zastosowano program Statistica 8,0. WYNIKI: U osób z nadwagą oraz otyłością, a także w całej badanej grupie osób z nadwagą lub otyłością wykazano występowanie określonych zaburzeń metabolicznych. Wyniki porównano z rezultatami osób bez nadwagi i otyłości. U badanych osób nie stwierdzono istotnych statystycznie różnic w rozkładzie genotypów i alleli polimorfizmu rs6602024 PFKP w porównaniu z kontrolą. W grupie kontrolnej wykazano znamienną statystycznie różnicę pomiędzy kobietami i mężczyznami w rozkładzie alleli. Wśród kobiet stwierdzono znamienną statystycznie różnicę w rozkładzie alleli G/A między osobami z grupy kontrolnej a osobami z nadwagą oraz nadwagą i otyłością razem wziętych. WNIOSKI: 1. Nadwaga i otyłość bardzo często występują u osób zgłaszających się do lekarza POZ. 2. Występowaniu allelu A polimorfizmu rs6602024 genu PFKP u kobiet towarzyszy zwiększone ryzyko nadwagi i otyłości.

12

Association and polymorphism study of seven candidate genes with reproductive traits in three pig breeds in Hungary

88%

Hunyadi-Bagi Á., Balogh P., Nagy K., Kusza S.

Acta Biochimica Polonica

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2016

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vol. 63

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issue 2

359-364

EN

Seven genes (BF, EGF, ESR, FSHB, H2AFZ, LEP and PRLP) were studied as candidate gene influencing eleven reproduction traits (interval between litters (IBL), percent of litter (PL), number of litters (NL), number of piglets born dead (NBD), number of piglet born alive (NBA), total number born (TNB), mean of born alive (MBA), mean of born dead (MBD), mean of born total (MBT), mean of piglets at 21 days of age (M21D) and growth rate (GR) in three pig breeds (Hungarian Large White (HLW), Duroc and Pietrain) by PCR-RFLP. Based on the observed vs. expected genotypes frequencies populations across loci were in Hardy-Weinberg equilibrium (P>0.05). In case HLW breed ESR and FSHβ genes were in disequilibrium. Association study suggested that only EGF gene showed significant influence on the trait NBA and TNB. The AA genotype are preferable for sows, associated with higher NBA and TNB. The longest IBL, and the highest NL is associated with AB and AA genotype of EGF gene. IBL is significantly shorter in case of pigs with AB and AA alleles than BB alleles of PRLP genes. Selection for these SNPs could improve the reproductivity in the studied breeds.

13

Rola wybranych polimorfizmów genu MGMT w rozwoju chorób nowotworowych

88%

Kiczmer P., Szydło B., Strzelczyk J. K., Gołąbek K., Ostrowska Z.

Annales Academiae Medicae Silesiensis

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2017

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vol. 71

378-382

EN

Materiał genetyczny komórki jest nieustannie narażony na działanie czynników mutagennych. Odpowiednie mechanizmy chroniące przed szkodliwym wpływem mutagenów są niezwykle ważne dla prawidłowego funkcjonowania oraz kontroli proliferacji komórek. Jednym z mechanizmów naprawczych jest działanie enzymu MGMT, który odpowiada za ochronę DNA komórki przed czynnikami alkilującymi. Różnice w aktywności enzymu, wynikające z występowania wielu odmian polimorficznych jego genu, mogą prowadzić niekiedy do zwiększonego ryzyka zachorowania na nowotwory. Tematem pracy jest omówienie roli niektórych polimorfizmów genu MGMT w rozwoju oraz terapii chorób nowotworowych.

PL

Cell DNA is constantly exposed to mutagenic factors. DNA repair mechanisms are very important to provide proper cell functioning and proliferation control. One of the DNA repair mechanisms is based on the O6-methylguanine-DNA methyltransferase enzyme, which provides protection against alkylating agents. Differences in MGMT enzyme activity may be caused by MGMT gene polymorphisms. MGMT polymorphisms may increase cancer risk, e.g. lung cancer or esophageal cancer. In this review we have described the role of some MGMT polymorphisms in cancer development and therapy.

14

TYMS 2R3R polymorphism and DPYD [IVS]14+1G>A gene mutation in Mexican colorectal cancer patients

88%

Gallegos-Arreola M., Zúñiga-González G., Sánchez-López J., Cruz A., Peralta-Leal V., Figuera L., Puebla-Pérez A., Ronquillo-Carreón C., Puebla-Mora A.

Acta Biochimica Polonica

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2018

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vol. 65

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issue 2

227-234

EN

Objective: To examine the association between TYMS 2R3R polymorphism and DPYD [IVS]14+1G>A mutation by comparing healthy subjects with colorectal cancer (CRC) patients in the Mexican population. Method: Genotyping of the 2R/3R was performed by polymerase chain reaction (PCR) and [IVS]14+1G>A mutation by real-time PCR analysis. Results: The observed frequencies of the TYMS 2R3R polymorphism and the -[IVS]14+1G>A mutation in DPYD did not indicate an increased risk for CRC (p>0.05). However we observed an association of the 2R/2R (OR 3.08, 95% CI 1.66-6.08, p=0.0017) and heterozygous (OR 1.98, 95% CI 1.32-2.97, p=0.0012) genotypes as risk factors when comparing controls and CRC patients that were also tobacco consumers. An association between the genotype and the disease was evident. The distribution of the 2R/2R genotype and hematological toxicity (adjusted OR 2.26, 95% CI 1.54-4.45, p=0.0259), heterozygous (2R/3R) with tumor stage III-IV (OR 1.81, 95% CI 1.11-2.94, p=0.020) and 2R/2R-2R/3R in non-chemotherapy response CRC patients with hematological (OR 2.3, 95% CI 1.21-4.4, p=0.014) and gastric toxicities (OR 3.11, 95% CI 1.18-8.2, p=0.035) confirmed that this factor may significantly contribute to the CRC susceptibility. Conclusion: TYMS 2R3R polymorphism and the -[IVS]14+1G>A mutation in DPYD was not associated with susceptibility to CRC. However, the 2R/2R and 2R/3R genotypes of TYMS polymorphism could significantly contribute to hematological and gastric toxicity in CRC patients in this sample population.

15

The role of MGMT polymorphisms rs12917 and rs11016879 in head and neck cancer risk and prognosis

88%

Kiczmer P., Prawdzic Seńkowska A., Strzelczyk J., Szydło B., Biernacki K., Osadnik T., Krakowczyk Ł., Ostrowska Z.

Acta Biochimica Polonica

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2018

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vol. 65

|

issue 1

87-92

EN

Head and neck squamous cell carcinoma (HNSCC) is one of the leading cancers by incidence worldwide. The risk of these cancers is strictly associated with alkylation factors present in tobacco smoke. The crucial role in preventing DNA alkylation is played by O6-methylguanine-DNA methyltransferase (MGMT). Dysfunction or lack of MGMT is associated with an increased risk of cancer. The aim of the study was to assess the influence of MGMT polymorphisms: rs12917 and rs11016879 on HNSCC risk and course. The study consisted of 69 HNSCC patients and 242 healthy individuals. Case samples were taken from resected tumour tissue. The control group comprised samples of epithelial cells collected from mucous membranes using swabs. DNA samples were genotyped by employing the 5' nuclease assay for allelic discrimination using TaqMan SNP Genotyping Assays. The significance between distributions of genotypes and alleles was tested using Pearson's χ2 test analysis. Our results indicated that the MGMT rs12917 TT genotype increases the risk of HNSCC. The MGMT rs11016879 AG genotype and A allele were associated with increased HNSCC risk. We noted higher risk of nodal metastasis in rs11016879 AA homozygotes. Mechanisms leading to MGMT enzymatic defect are unknown and hence further studies need to be carried out. Our data suggest that the examined polymorphisms may be considered as potential prognostic factors for HNSCC risk and outcome. Further studies are necessary to verify our results.

16

Missense mutation within cystic fibrosis transmembrane conductance regulator (CFTR) gene is associated with selected parameters of the frozen-thawed spermin Holstein-Friesian bulls

75%

Kaminski S., Hering D. M., Kordan W., Lecewicz M., Kaminski S., Hering D. M., Kordan W., Lecewicz M.

Polish Journal of Veterinary Sciences

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2019

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issue 2

17

Using Morphological Characters and Simple Sequence Repeat (SSR) Markers to Characterize Tunisian Fig (Ficus Carica L.) Cultivars

75%

Saddoud O., Baraket G., Chatti K., Trifi M., Marrakchi M., Mars M., Salhi-Hannachi A.

Acta Biologica Cracoviensia s. Botanica

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2011

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vol. 53

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issue 2

18

Genetic polymorphisms of leptin and leptin receptor genes in relation with production and reproduction traits in cattle

75%

Trakovická A., Moravčíková N., Kasarda R.

Acta Biochimica Polonica

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2013

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vol. 60

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issue 4

783-787

EN

Leptin and leptin receptor genes are considered as production traits markers in dairy or beef cattle. The aim of this study was to verify the associations of polymorphisms in bovine LEP and LEPR genes with production and reproduction traits in Slovak Spotted and Pinzgau cows. Long-life production was evaluated: milk, protein, and fat yield and reproduction traits: age at first calving, calving interval, days open, and insemination interval. In total, 296 blood samples of Slovak Spotted and 85 hair roots samples of Pinzgau cows were analyzed. In order to detect LEP/Sau3AI (BTA 4, inron 2) and LEPR/T945M (BTA 3, exon 20) genotypes PCR-RFLP method was used. In Slovak Spotted and Pinzgau cows allele frequencies were 0.838/0.162 and 0.694/0.306 for A and B LEP variants, and 0.954/0.046 and 0.912/0.088 for C and T LEPR variants, respectively. For testing the associations between SNPs LEP/Sau3AI and LEPR/T945M and evaluated traits, the General Linear Model procedure in SAS Software was used. Statistical analysis showed that SNP LEP/Sau3AI significantly affected milk, protein and fat yield (P<0.05), and age at first calving (P<0.01) in analyzed population of cows. Statistically, SNP LEPR/T945M affected significantly calving interval (P<0.01) only. Results of our study suggest that especially leptin is a candidate gene, which influences mainly milk production traits and might be implemented in breeding strategies to improve the production performance of both analyzed cattle breeds.

19

Rola 7α- hydroksylazy cholesterolu i genu CYP7A1 w fi zjologii i patologii człowieka

75%

Iwanicki T., Balcerzyk A., Żak I.

Annales Academiae Medicae Silesiensis

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2010

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vol. 64

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issue 3-4

48-57

EN

Cholesterol 7α- hydroxylase (CYP7A1) belongs to the big family of cytochrome p450. Biological signifi cance of cholesterol 7α- hydroxylase is associated with beginning of cholesterol transformation to the bile acids. CYP7A1 affi nity to the cholesterol is determined by its unique protein structure, diff erent from the other proteins of cytochrome p450 family. CYP7A1 enzyme is enoded by CYP7A1 gene localized in short arm of chromosome 8. Expression of CYP7A1 gene could be regulated by farnesoid X receptor (FXR) or by kinases, which modulate nuclear receptor`s binding abilities to the gene promoter. Polymorphic variants and mutations present in the promoter region impact on the quality properties of the enzyme. CYP7A1 gene, encoding key enzyme of the cholesterol catabolic pathway is a main candidate to the research of its association with changes of serum lipids levels. Presence of genetic variants can be associated with changed levels of total cholesterol, triglycerides and Low- density lipoproteins (LDL). Promoter polymorphism of CYP7A1 is also main candidate for the research of association with such disease entities as gallbladder stone formation, colon cancer, gallbladder cancer or atherogenic- based diseases.

PL

7α- hydroksylaza cholesterolu (CYP7A1) jest enzymem należącym do dużej rodziny cytochromu p450. Znaczenie biologiczne 7α- hydroksylazy cholesterolu związane jest z rozpoczęciem szeregu przemian cholesterolu do kwasów żółciowych. Powinowactwo CYP7A1 do cholesterolu determinowane jest unikalną budową białka, odmienną od reszty białek rodziny cytochromu p450. Enzym ten kodowany jest przez gen CYP7A1, którego locus znajduje się na ramieniu krótkim chromosomu ósmego. Ekspresja tego genu może być regulowana przy udziale farnezylowego receptora X (FXR), bądź zachodzić poprzez szereg kinaz białkowych, modulujących zdolność przyłączania się swoistych receptorów jądrowych do promotora CYP7A1. Warianty polimorfi czne i mutacje, występujące w regionie promotorowym, wpływają na właściwości jakościowe enzymu. Gen CYP7A1, kodując kluczowy enzym w katabolizmie cholesterolu, jest głównym kandydatem do badań jego związku ze zmianami w osoczowym poziomie lipoprotein. Obecność wariantów genetycznych w promotorze genu CYP7A1 może być związana ze zmienionym poziomem cholesterolu całkowitego, triacylogliceroli czy LDL (Low- Density Lipoprotein). Polimorfizm promotora genu kodującego kluczowy enzym szlaku syntezy kwasów żółciowych i usuwania cholesterolu z organizmu jest głównym kandydatem do badań asocjacyjnych z takimi jednostkami chorobowymi, jak kamica żółciowa, nowotwory jelita grubego i woreczka żółciowego czy choroby o podłożu miażdżycowym.

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Polimorfizm rs7903146 genu TCF7L2 a występowanie nadwagi i otyłości u osób zgłaszających się do poradni ogólnej podstawowej opieki zdrowotnej

75%

Kała E., Bodek I., Trelińska O., Gładysz P., Lepiarczyk O., Śmigel A., Gola M., Grzeszczak W.

Annales Academiae Medicae Silesiensis

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2014

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vol. 68

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issue 4

200-206

EN

INTRODUCTION TCF7L2 is linked with the pathogenesis of insulin-resistant diabetes. The participation of the gene polymorphism encoding TCF7L2 in the development of being overweight and obesity is still controversial. MATERIAL AND METHODS The study included a total of 476 patients (208 men and 268 women) from southern Poland who sucessively reported to the primary healthcare clinic for medical help. The patients were divided into three groups, depending on girth (control group, obese group, overweight group). In genotyping the TCF7L2 (rs 7903146) polymorphism, fluorescent probes from a prepared set for assaying single nucleotide polymorphism were used: TaqMan Pre-designed SNP Genotypie Assai (Applied Biosystems). AIM The aim of this study was to evaluate the possible association between the chosenTCF7L2 polymorphism and the prevalence of being overweight and obesity in a population of patients reporting to a primary healthcare clinic. RESULTS The prevalence of being overweight as assessed by waist circumference in the study group was found to be 23.9% while 47.1% of patients were determined to be suffering from abdominal obesity . Our study did not show any significant correlation between the observed rs 7903146 polymorphism of the TCF7L2 gene and the prevalence of being overweight and obesity. Moreover, no significant relationship between the rs 7903146 polymorphism of the TCF7L2 gene and waistline or BMI was found in the entire study group or separately for men and women. CONCLUSIONS The prevalence of obesity and being overweight in the examined group amounted to 72.3% (23.9% – overweight and 48.4% – obese). The research did not confirm an association between the studied rs 7903146 polymorphism of the TCF7L2 gene and waist circumference and the prevalence of being overweight and abdominal obesity.

PL

W S T Ę P TCF7L2 uczestniczy w patogenezie cukrzycy typu 2. Udział polimorfizmu genu kodującego TCF7L2 w rozwoju nadwagi i otyłości pozostaje nadal kontrowersyjny. Celem pracy była ocena potencjalnego związku między wybranym polimorfizmem genu TCF7L2 a występowaniem nadwagi i otyłości w populacji pacjentów zgłaszających się do poradni ogólnej podstawowej opieki zdrowotnej (POZ). M A T E R I A Ł I M E T O D Y K A Badaniem objęto łącznie 476 dorosłych pacjentów (208 mężczyzn i 268 kobiet) z rejonu Polski Południowej, którzy kolejno zgłaszali się po poradę do poradni ogólnej POZ. Badanych podzielono na 3 grupy na podstawie wartości obwodu pasa (grupa kontrolna, grupa z otyłością, grupa z nadwagą). Genotypowanie polimorfizmu TCF7L2 (rs7903146) prowadzono z wykorzystaniem znakowanych fluorescencyjnie sond, używając gotowych zestawów do oznaczania polimorfizmu pojedynczego nukleotydu-TaqMan Pre-designed SNP Genotypie Assai (Applied Biosystems). WYNIKI Częstość występowania nadwagi ocenianej na podstawie obwodu talii wynosiła w badanej grupie 23,9%, zaś u 47,1% osób stwierdzono występowanie otyłości brzusznej. Nasze badania nie wykazały znamiennej zależności między badanym polimorfizmem a częstością występowania nadwagi lub otyłości u pacjentów zarówno w całej grupie badawczej, jak i oddzielnie u kobiet i mężczyzn. WNIOSKI Częstość występowania nadwagi i otyłości wśród pacjentów zgłaszających się do poradni POZ wynosi aż 72,3%, z czego 23,9% to osoby z nadwagą, a 48,4% z otyłością. Nie stwierdzono związku między badanym polimorfizmem TCF7L2 a obwodem talii i występowaniem otyłości brzusznej.

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Polimorfizm rs7903146 genu TCF7L2 a występowanie nadwagi i otyłości u osób zgłaszających się do poradni ogólnej podstawowej opieki zdrowotnej