Search results

1

Association of the ACTN3 R577X polymorphism in Polish rowers

100%

Jastrzebski Z., Leonska-Duniec A., Kolbowicz M., Tomiak T.

Baltic Journal of Health and Physical Activity

|

2014

|

vol. 6

|

issue 3

205-210

EN

Background: The ACTN3 R577X polymorphism has been associated with an elite athlete status. Several studies have determined that the R allele is connected with power-oriented athletic performance, whereas the nonfunctional XX genotype may give some beneficial effect for endurance performance. The main aim of the study was to determine the possible interaction between the ACTN3 R577X polymorphism and an endurance athlete status in a group of Polish rowers in comparison with sedentary individuals. Material/Methods: 121 male Polish rowers, members of academic sports clubs, and 115 unrelated volunteers were recruited for the study. Genotyping for the R577X variant was performed by PCR-RFLP. Results: The genotype distribution amongst the rowers (52.06% RR, 38.85% RX, 9.09% XX) was significantly different from that amongst sedentary individuals (RR-33.5%; RX- 49.60%; XX-17,35%; P = 0.024). A significant excess of the R allele was noted in the rowers (71.48%, P = 0.008) when comparing with the controls (60.0%). Conclusions: The obtained results show that the ACTN3 X allele and XX genotype are underrepresented in Polish rowers and they are not advantageous for the endurance-type athletes in the studied population. On the contrary, the R allele seems to be useful for a top-level rower. However, additional studies are needed to clarify this problem.

2

Polymorphism in intron 23 of the endothelial nitric oxide synthase gene (NOS3) is not associated with hypertension.

80%

Derebecka N., Hołysz M., Dankowski R., Wierzchowski M., Trzeciak W. H.

|

2002

|

vol. 49

|

issue 1

263-268

EN

Nitric oxide (NO) is synthesised in the vascular endothelium by nitric oxide synthase (NOS3) and is an important factor in the regulation of blood pressure. Impaired synthesis of NO due to mutations in the NOS3 gene is associated with hypertension. To date several allelic variants of the NOS3 gene have been identified and their possible linkage with hypertension investigated. We studied the distribution of genotypes and frequency of alleles of the G11T polymorphism in intron 23 of the NOS3 gene in patients with hypertension and in a control group of healthy individuals. The polymorphism was determined by PCR-RFLP analysis. The distribution of genotypes in the patients with hypertension and in the healthy individuals did not differ significantly from the values predicted from Hardy-Weinberg equilibrium for the general population. No major differences in the distribution of the G11T polymorphism in the patients and healthy individuals were found (P > 0.05).

3

Interaction Between ACE I/D and ACTN3 R557X Polymorphisms in Polish Competitive Swimmers

80%

Grenda A., Leońska-Duniec A., Kaczmarczyk M., Ficek K., Król P., Cięszczyk P., Żmijewski P.

Journal of Human Kinetics

|

2014

|

vol. 42

|

issue 1

127-136

EN

We hypothesized that the ACE ID / ACTN3 R577X genotype combination was associated with sprint and endurance performance. Therefore, the purpose of the present study was to determine the interaction between both ACE ID and ACTN3 R577X polymorphisms and sprint and endurance performance in swimmers. Genomic DNA was extracted from oral epithelial cells using GenElute Mammalian Genomic DNA Miniprep Kit (Sigma, Germany). All samples were genotyped using a real-time poly- merase chain reaction. The ACE I/D and the ACTN3 R577X genotype frequencies met Hardy-Weinberg expectations in both swimmers and controls. When the two swimmer groups, long distance swimmers (LDS) and short distance swimmers (SDS), were compared with control subjects in a single test, a significant association was found only for the ACE polymorphism, but not for ACTN3. Additionally, four ACE/ACTN3 combined genotypes (ID/RX, ID/XX, II/RX and II/XX) were statistically significant for the LDS versus Control comparison, but none for the SDS versus Control comparison. The ACE I/D and the ACTN3 R577X polymorphisms did not show any association with sprint swimming, taken individually or in combination. In spite of numerous previous reports of associations with athletic status or sprint performance in other sports, the ACTN3 R577X polymorphism, in contrast to ACE I/D, was not significantly associated with elite swimming status when considered individually. However, the combined analysis of the two loci suggests that the co-occurrence of the ACE I and ACTN3 X alleles may be beneficial to swimmers who compete in long distance races

4

Clinical parameters of inflammatory bowel disease in children do not correlate with four common polymorphisms of the transforming growth factor β1 gene

80%

Liberek A., Jakóbkiewicz-Banecka J., Kloska A., Świderska J., Kmieć Z., Łuczak G., Wierzbicki P., Liberek T., Marek K., Plata-Nazar K., Sikorska-Wiśniewska G., Kamińska B., Węgrzyn G.

|

2011

|

vol. 58

|

issue 4

641-644

EN

Transforming growth factor β1 (TGF-β1) is a cytokine affecting cell proliferation and development, which also has an immunomodulatory activity. Correlations between polymorphisms of the TGF-β1 gene and clinical parameters of inflammatory bowel disease (IBD) were reported previously in adults. Here, we tested whether such correlations occur in pediatric patients suffering from IBD. One hundred and four pediatric IBD patients were involved in this study. Among them, 36 were diagnosed with Crohn's Disease (CD) and 68 were diagnosed with ulcerative colitis (UC). The control group consisted of 103 children, in which IBD was excluded. TGF-β1 levels were determined in plasma and intestinal mucosa samples. The presence of the TGF β1 protein and the amount of TGF β1 mRNA were estimated in intestinal mucosa by immunohistochemistry and reverse transcription Real-Time PCR, respectively. Four common polymorphisms of the TGF-β1 gene were investigated: -800G/A, -509C/T, 869T/C and 915G/C. No significant correlation between TGF-β1 genotypes and (i) TGF-β1 levels in plasma and tissue samples, (ii) TGF-β1 gene expression efficiency in intestinal mucosa, (iii) IBD clinical parameters and (iv) inflammatory activity could be detected in children suffering from IBD. We conclude that, contrary to previous suggestions, the four common polymorphisms of the TGF-β1 gene do not influence the susceptibility to or clinical parameters of IBD in the tested population of children.

5

TheGABPB1gene A/G polymorphism in Polish rowers

70%

Maciejewska-Karłowska A., Leońska-Duniec A., Cięszczyk P., Sawczuk M., Eider J., Ficek K., Sawczyn S.

Journal of Human Kinetics

|

2012

|

vol. 31

115-120

EN

Nuclear respiratory factor 2 (NRF2), also referred to as the GA-binding protein (GABP) transcription factor, is a key transcriptional activator of many nuclear genes which encode a wide range of mitochondrial enzymes. The variants of the GABPB1 gene encoding the beta1 subunit of NRF2 protein have been associated with physical performance, particularly endurance. The aim of this study was to confirm the possible importance of the A/G polymorphism (rs7181866) in intron 3 of the GABPB1 gene in Polish rowers. The study was carried out on 55 Polish rowers and sedentary individuals, to evaluate the possible relationships between genotype and physical performance. DNA was extracted from buccal cells donated by the subjects. Genotyping was carried out by PCR-RFLP. The results revealed that the frequency of the GABPB1 A/G genotype (89.09% AA; 10.91% AG, 0% GG; vs. 97.69% AA; 2.31% AG; 0.00% GG) %; P = 0.012) and G allele (5.50% vs. 1.17%; P = 0.014) was significantly higher in the rowers compared to controls. The results suggest that the GABPB1 gene can be taken into consideration as a genetic marker in endurance athletes. However, these conclusions should be supported with more experimental studies on other GABPB1 polymorphisms and other genes in elite endurance athletes.

6

Preliminary report on β-casein gene Met183QVal183 polymorphism in Romanian indigenous Zackel sheep breeds

70%

Kusza S., Ilie D., Sauer M., Sauer I.-W., Gavojdian D.

|

2017

|

vol. 64

|

issue 2

339-341

EN

Genetic polymorphisms of the milk protein genes are important because of their effects on quantitative traits and technological properties of milk manufacturing. In the present study we identified the polymorphism of the beta-casein gene in two local sheep breeds (Racka n=98 and Turcana n=111) in Romania. The most studied variants at the ovine beta-casein (CSN2) locus are: A and G variants. Genomic DNA was extracted from hair follicles and beta-casein genotypes were determined by the rapid TaqMan (Applied Biosystems, USA) genotyping assay. Homozygote genotypes GG were not detected in any of the studied breeds. In both, the Racka and Turcana breeds, the A variant had a much higher frequency, 0.98% and 0.97%, respectively. In the current study, the fast DNA tests for genotyping ovine CSN2 were successfully optimized, however, further samples and correlations of genomic results with milk characteristics and production data are needed for the development of future selection schemes of the Romanian indigenous sheep breeds, with the ultimate purpose to produce low allergen level sheep milk and derived dairy products.

7

THE PPARA GENE POLYMORPHISM IN TEAM SPORTS ATHLETES

70%

Ahmetov I. I., Egorova E. S., Mustafina L. J.

Central European Journal of Sport Sciences and Medicine

|

2013

|

vol. 1

|

issue 1

19-24

EN

Peroxisome proliferator-activated receptor α (PPARα) is a transcription factor that regulates lipid and glucose metabolism. Accumulating evidence suggests that the intron 7 C allele of the PPARA gene rs4253778 G/C polymorphism has an advantage for power-oriented athletes, presumably due to the hypertrophic effects on skeletal muscle and increase in glucose utilization in response to anaerobic exercise. The G allele, however, is said to be favorable for the endurance-oriented athletes. The metabolic demands of team sports involve aerobic and anaerobic energy pathways, as a result of the intermittent physical activity. The aim of the present study was to investigate the association between the PPARA gene polymorphism and team-sport athletic status. A total of 665 Russian athletes from 14 team sports and 1,706 controls were involved in the case-control study. We found that the frequency of the PPARA C allele was significantly higher in athletes compared to controls (20.5 vs. 16.4%, P = 0.0009), suggesting that anaerobic rather than aerobic metabolism may be crucial to the game performance in team sports. This means that our study indicates the association between the PPARA gene G/C polymorphism and team-sport athletic status. Although more replication studies are needed, the preliminary data suggest an opportunity to use the analysis of PPARA polymorphism, along with other gene variations and standard phenotypic assessment in team sports selection.

8

The association between ALR2 -106C > T gene polymorphisms and diabetic retinopathy susceptibility in diabetes mellitus patient: a systematic review and meta-analysis

70%

Putri I. S., Rezkita B. E., Irving S., Azmiardi A.

|

issue 1

12-21

EN

Aldose reductase gene polymorphisms has been indicated to be associated with diabetic retinopathy (DR). The research data were from PubMed and EMBASE. We identified -106C > T single nucleotide polymorphism (SNP). Pool odds ratio (OR) with 95% CI were calculated. Nine studies were included. ALR2 106C > T gene polymorphisms was associated with the increased risk of DR in T1DM (C vs. T, OR = 2.07, p = 0.001; CC vs. CT + TT, OR = 2.56, p = 0.005). T allele and TT genotype were associated with decreased risk of DR in T1DM (OR = 0.48, p = 0.0001 and OR = 0.12, p = 0.0005). In conclusion, C allele and CC genotype may be a risk factor, while T allele and TT genotype may serve as protective factor for DR in T1DM patient.

9

Plasminogen activator inhibitor-1 (PAI-1) gene 4G/5G promoter polymorphism is not associated with breast cancer.

70%

Błasiak J., Smolarz B.

|

2000

|

vol. 47

|

issue 1

191-199

EN

The antigen content of plasminogen activator inhibitor-1 (PAI-1) in primary breast cancer tissue extracts may be of strong prognostic value: high levels of PAI-1 in tumors predict poor prognosis for patients. The gene encoding PAI-1 is highly polymorphic and an insertion (5G)/deletion (4G) polymorphism in the PAI-1 gene promoter (the 4G/5G polymorphism), may have functional significance in PAI-1 expression. In the present work the distribution of genotypes and frequency of alleles of the 4G/5G polymorphism in subjects with breast cancer were investigated. Tumor tissues were obtained from 100 postmenopausal women with node-negative and node-positive ductal breast carcinoma with uniform tumor size. Blood samples from age matched healthy women served as control. The 4G/5G polymorphism was determined by PCR amplification using the allele specific primers. The distribution of the genotypes of the 4G/5G polymorphism in both control and patients did not differ significantly (P > 0.05) from those predicted by the Hardy-Weinberg distribution. There were no differences in the genotype distributions and allele frequencies between node-positive and node-negative patients. The 4G/5G polymorphism may not be linked with elevated level of PAI-1 observed in breast cancer and therefore may not be associated with appearance and/or progression of breast cancer.

10

Lack of association between single nucleotide polymorphisms of CPA4, LEP and AKR1B1 genes located at the long arm of chromosome 7 (7q31-q35) and chronic kidney disease occurrence and progression

61%

Śnit M., Gumprecht J., Trautsolt W., Nabrdalik K., Grzeszczak W.

Annales Academiae Medicae Silesiensis

|

2012

|

vol. 66

|

issue 2

27-33

EN

BACKGROUND The aim of the study was to investigate the infl uence of single nucleotide polymorphisms (SNPs) of carboxypeptidase A4, CPA4, leptin, LEP and aldo-keto reductase family 1, AKR1B1 genes located at the long arm of chromosome 7 (7q31-q35) on development and progression of chronic kidney disease (CKD). MATERIAL AND METHODS There was an association study by PCR-RFLP method of following SNPs in parent-off spring trios performed: G934T of CPA4 gene, A19G of LEP gene and C-106T of AKR1B gene. 471 subjects, 157 patients with CKD and 314 their biological parents were examined. The patients were divided into 3 groups: diabetic nephropathy due to type 1 diabetes (n = 34), chronic primary glomerulonephritis (n = 70) and chronic inter- stitial nephritis (n = 53). The mode of alleles transmission was determined using the transmission disequilibrium test (TDT). RESULTS There was no association of studied SNPs and CKD occurrence or pro- gression rate of renal function loss. Transmission of alleles of investigated SNPs did not diff er signifi cantly: G934T of CPA4 gene: P = 0.61 in whole group of CKD patients, p = 0.66 in GN group, p = 0.70 – IN group and p = 0.61 in DN one; A19G of LEP gene: p = 0.58, 0.71, 0.78 and 0.49, respectively; C-106T of ALDR1 gene: p = 0.31, 0.47, 0.12 and 0.38, respectively. No impact of examined polymorphisms on the rate of progression of renal function loss was observed. CONCLUSIONS The results, obtained in the study, suggest that the investigated SNPs: G934T of CPA4 gene, A19G of LEP gene and C-106T of AKR1B gene may not play a major role in the development and progression of chronic nephropathies.

PL

WSTĘP Celem badań było zbadanie wpływu polimorfi zmów pojedynczego nukleotydu (SNPs) genów karboksypepsydazy A4, CPA4, leptyny, LEP i reduktazy aldozy, AKR1B1, znajdujących się na długim ramieniu chromosomu 7 (7q31-q35) na rozwój i progresję przewlekłej choroby nerek (PChN). MATERIAŁ I METODY Wykorzystując metodę PCR-RFLP przebadano następujące polimorfizmy: G934T CPA4 genu, A19G LEP i C-106T genu AKR1B. Badaniami objęto 471 osoby: 157 z PChN i 314 ich biologicznych rodziców. Pacjentów podzielono na 3 grupy: z nefropatią cukrzycową w przebiegu cukrzycy typu 1 (DN, n = 34), z przewlekłym pierwotnym kłębuszkowym zapaleniem nerek (GN, n = 70) oraz z przewlekłym śródmiąższowym zapaleniem nerek (IN, n = 53). Tryb przekazywania alleli został oceniony testem nierównowagi przekazywania (Transmission-Disequilibrium Test, TDT). WYNIKI Częstość przekazywania alleli analizowanych SNPs nie odbiegała znacząco od oczekiwanej: G934T CPA4: p = 0,61 w całej grupie badanej, p = 0,66 w grupie GN, p = 0,70 – w grupie IN oraz p = 0,61 w grupie DN; A19G LEP: p = 0,58; 0,71; 0,78 i 0,49, odpowiednio; C-106T genu ALDR1: p = 0,31; 0,47; 0,12 i 0,38, odpowiednio. Nie zaobserwowano żadnego wpływu badanych polimorfi zmów na szybkość utraty funkcji nerek. WNIOSKI Uzyskane w badaniu wyniki wskazują, że badane SNPs: G934T genu CPA4, A19G LEP i C-106T genu AKR1B nie odgrywają istotnej roli w rozwoju i progresji przewlekłych nefropatii.

11

Transferrin receptor levels and polymorphism of its gene in age-related macular degeneration

61%

Wysokinski D., Danisz K., Pawlowska E., Dorecka M., Romaniuk D., Robaszkiewicz J., Szaflik M., Szaflik J., Blasiak J., Szaflik J.

|

2015

|

vol. 62

|

issue 2

177-184

EN

The aim of the present study was to investigate the association of age related macular degeneration (AMD) risk with some aspects of iron homeostasis: iron concentration in serum, level of soluble transferrin receptor (sTfR), and transferrin receptor (TFRC) genetic variability. Four hundred and ninety one AMD patients and 171 controls were enrolled in the study. Restriction fragment length polymorphism PCR was employed to genotype polymorphisms of the TFRC gene, and colorimetric assays were used to determine the level of iron and sTfR. Multiple logistic regression was applied for all genotype/allele-related analyses and the ANOVA test for iron and sTfR serum level comparison. We found that the genotypes and alleles of the c.-253G > A polymorphism of the TFRC gene were associated with AMD risk and this association was modulated by smoking status, AMD family history, living environment (rural/urban), body mass index and age. The levels of sTfR was higher in AMD patients than controls, whereas concentrations of iron did not differ in these two groups. No association was found between AMD occurrence and the p.Gly142Ser polymorphism of the TRFC gene. The results obtained suggest that transferrin receptor and variability of its gene may influence AMD risk.

12

Antigen levels of urokinase-type plasminogen activator receptor and its gene polymorphism related to microvessel density in colorectal cancer

61%

Przybylowska K., Szemraj J., Kulig A., Dziki A., Ulanska J., Blasiak J.

|

2008

|

vol. 55

|

issue 2

357-363

EN

We determined the distribution of genotypes and frequencies of alleles of the (CA)n repeat polymorphism in intron 3 of the urokinase plasminogen activator receptor (uPAR) gene, uPAR antigen levels and microvessel density (MVD) in tumour and distant mucosa samples from 52 patients with colorectal cancer. The uPAR level was higher for patients with high MVD comparing to patients with lower MVD which may suggest that uPAR can be correlated with progression of colorectal cancer. The significant relationship between the high MVD and uPAR antigen level appeared to be independent of the (CA)n repeat polymorphism because no differences in the level of uPAR antigen between carriers of alleles were found. The received results, indicate that uPAR might be considered as a target in colorectal cancer patients' therapy.

13

Carrier-state of the A allele of – 455G>A polymorphism within the beta fibrinogen gene increases the risk of coronary artery disease in the presence of elevated concentration of serum triacylglycerols

51%

Sarecka-Hujar B., Zak I., Krauze J.

Annales Academiae Medicae Silesiensis

|

2009

|

vol. 63

|

issue 5

41-49

EN

BACKGROUND Fibrinogen promotes development of atherosclerosis by directed integration in atherosclerotic lesions where it is converted into fi brin. The aim of the study was to assess a relationship between –455G>A polymorphism of beta fi brinogen (FGB) gene and coronary artery disease (CAD) in the Polish patients from Upper Silesia region and to establish whether there are any interactions between this polymorphism and traditional risk factors that infl uence the risk of CAD. METHODS We analyzed 191 patients with angiographically documented CAD and 203 blood donors. Genetic analysis was performed using PCR-RFLP method. RESULTS The frequency of FGB -455G>A genotypes was compatible with Hardy- Weinberg equilibrium. There was no signifi cant diff erences in the distribution of A allele and A allele carriers of FGB polymorphism between cases and controls. We observed a tendency to higher level of plasma fibrinogen in subjects with AA or GA genotypes than in GG homozygotes. We also found strong synergistic eff ects between A allele carrier-state and increased level of triacylglycerols (TG) in determining the risk of CAD (SI=5.97, SIM=2.63). Carriers of A allele with elevated level of TG were 3-fold more frequent among cases than in control group (12.0% vs 3.9%, p=0.003,OR=3.34). CONCLUSIONS There is a synergistic eff ect between –455G>A polymorphism of FGB gene and elevated concentration of serum triacylglycerols which determine the risk of CAD.

PL

WSTĘP Fibrynogen promuje rozwój zmian miażdżycowych przez przyleganie do zmienionej ściany tętnic gdzie jest przekształcany w fibrynę. Celem niniejszej pracy była ocena związku między polimorfi zmem –455G>A genu kodującego łańcuch beta fibrynogenu (FGB) a ryzykiem choroby wieńcowej (CAD, ang. coronary artery disease) w grupie pacjentów z Górnego Śląska i ustalenie czy istnieją interakcje między tym polimorfi zmem a tradycyjnymi czynnikami ryzyka miażdżycy w determinowaniu ryzyka CAD. MATERIAŁ I METODY Grupę badaną stanowiło: 191 pacjentów z potwierdzoną koronarografi cznie CAD oraz 203 krwiodawców bez obciążeń chorobami sercowo-naczyniowymi. Polimorfi zm –455G>A genu FGB genotypowano metodą RFLP-PCR. Wyniki. Częstości genotypów polimorfi zmu -455G>A genu FGB były zgodne z równowagą Hardy-Weinberg’a. Nie stwierdzono znamiennych różnic w częstości allela A i nosicieli allela A polimorfi zmu genu FGB między pacjentami a grupą kontrolną. Obserwowano tendencję do występowania wyższego poziomu fi brynogenu w osoczu osób z genotypami AA i GA w porównaniu do poziomu fibrynogenu w osoczu osób z genotypem GG. Stwierdzono również silny synergiczny efekt między nosicielstwem allela A a podwyższonym poziomem triglicerydów w determinowaniu ryzyka CAD (indeksy synergii SI=5.97, SIM=2.63). Nosiciele allela A charakteryzujący się podwyższonym poziomem triglicerydów występowali trzykrotnie częściej w grupie chorych niż w kontroli (12.0% vs 3.9%, p=0.003,OR=3.34). WNIOSKI Przedstawione wyniki wskazują na synergiczny związek nosicielstwa allela A polimorfi zmu – 455G>A genu FGB z ponadnormatywnym stężeniem triglicerydów w surowicy krwi w kształtowaniu ryzyka CAD w populacji pacjentów z Górnego Śląska.

Refine search results

Association of the ACTN3 R577X polymorphism in Polish rowers

Polymorphism in intron 23 of the endothelial nitric oxide synthase gene (NOS3) is not associated with hypertension.

Interaction Between ACE I/D and ACTN3 R557X Polymorphisms in Polish Competitive Swimmers

Clinical parameters of inflammatory bowel disease in children do not correlate with four common polymorphisms of the transforming growth factor β1 gene

TheGABPB1gene A/G polymorphism in Polish rowers

Preliminary report on β-casein gene Met183QVal183 polymorphism in Romanian indigenous Zackel sheep breeds

THE PPARA GENE POLYMORPHISM IN TEAM SPORTS ATHLETES

The association between ALR2 -106C > T gene polymorphisms and diabetic retinopathy susceptibility in diabetes mellitus patient: a systematic review and meta-analysis

Plasminogen activator inhibitor-1 (PAI-1) gene 4G/5G promoter polymorphism is not associated with breast cancer.

Lack of association between single nucleotide polymorphisms of CPA4, LEP and AKR1B1 genes located at the long arm of chromosome 7 (7q31-q35) and chronic kidney disease occurrence and progression

Transferrin receptor levels and polymorphism of its gene in age-related macular degeneration

Antigen levels of urokinase-type plasminogen activator receptor and its gene polymorphism related to microvessel density in colorectal cancer

Carrier-state of the A allele of – 455G>A polymorphism within the beta fibrinogen gene increases the risk of coronary artery disease in the presence of elevated concentration of serum triacylglycerols