Wyniki wyszukiwania - Biblioteka Nauki

1

Carrier-state of D allele in ACE gene insertion/deletion polymorphism is associated with coronary artery disease, in contrast to the C677→T transition in the MTHFR gene.

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Żak I. , Niemiec P. , Sarecka B. , Balcerzyk A. , Ciemniewski Z. , Rudowska E. , Dyląg S.

Acta Biochimica Polonica

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2003

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tom 50

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nr 2

527-534

EN

Angiotensin I-converting enzyme (ACE), which plays an important role in blood pressure regulation, and methylenetetrahydrofolate reductase (MTHFR) involved in homocysteine metabolism belong to a large group of polypeptides which may be potential risk factors for atherosclerosis and coronary artery disease (CAD). To assess whether polymorphisms of the genes encoding these peptides are associated with CAD in Silesian we conducted a study among 68 individuals suffering from CAD (including 52 cases after myocardial infarction), 51 subjects with positive family history of CAD and 111 controls. We analysed the distribution of genotypes and allele frequencies of the insertion/deletion (I/D) polymorphism in the ACE gene using PCR amplification, and the C677→T polymorphism in the MTHFR gene using PCR-RFLP analysis. We found that D allele frequency was significantly higher in CAD patients (61%) than in controls (43%) (P = 0.001, OR = 2.06). The D allele carriers (DD + ID genotypes) were more frequent in the CAD patients (85%) compared to control group (65%) (P = 0.003, OR = 3.14), whereas the familial CAD risk group shows the highest frequency of the ID genotype (57% vs 43% in controls). In contrast, the MTHFR polymorphism does not seem to be associated with the disease. Our data indicate that in Silesian CAD patients the disease is strongly associated with carrier-state of the ACE D allele, but not with the C677→T transition in the MTHFR gene.

2

A REVIEW OF STUDIES ABOUT THE GENES ENCODING THE COLLAGEN PROTEINS IN THE CONTEXT OF THE ANTERIOR CRUCIATE LIGAMENT RUPTURE

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Szumiło P.

Central European Journal of Sport Sciences and Medicine

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2014

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tom 5

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nr 1

91-97

EN

ACL rupture is a common injury in professional sport as well as recreation. It happens most often during deceleration, lateral pivoting, or landing tasks. Most often it is a non-contact mechanism during which the knee is exposed to large forces. The main component of the ACL, reaching 75% of the content, is collagen. Ligaments are made of several types of collagen, which perform different functions. It has been proved that various variants of collagen genes and their interaction with other genes may significantly influence the risk of injury to the ACL. This publication contains a review of studies about polymorphisms of collagen genes in the context of ACL rupture.

3

Impact of APEX Ile64val Gene Polymorphisms of DNA Repair Ber System on Modulation of the Risk of Colorectal Cancer in the Polish Population

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Kabziński J. , Majsterek I. , Mik M. , Dziki A. , Dziki Ł. , Maciejczak L.

Polish Journal of Surgery

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2015

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tom 87

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nr 3

121-123

EN

Colorectal cancer (CRC) is one of the deadliest cancers which lie in the incidence of morbidity in second place. Intensive research is to determine and confirm the genetic basis of this disease, which is believed may have a direct relationship with the reduced efficiency of DNA repair systems. The aim of this study was to determine the effect of APEX gene polymorphism Ile64Val on increasing the risk of colorectal cancer in the Polish population. Material and methods. The blood samples collected from 150 patients diagnosed with colon cancer was used. The control group consisted of 150 healthy subjects. Genotyping was performed by TaqMan method. Results. The results indicate that genotype Ile Val is associated with an increased risk of colorectal cancer (OR 2.069; 95% CI 1,205-3,552; p = 0.008). Conclusions. Based on these results, we conclude that the APEX gene polymorphism Ile64Val may be associated with an increased risk of colorectal cancer.

4

The Variants Within the COL5A1 Gene are Associated with Reduced Risk of Anterior Cruciate Ligament Injury in Skiers

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Stępień-Słodkowska M. , Ficek K. , Kaczmarczyk M. , Maciejewska-Karłowska A. , Sawczuk M. , Leońska-Duniec A. , Stępiński M. , Ziętek P. , Król P. , Chudecka M. , Cięszczyk P.

Journal of Human Kinetics

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2015

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tom 45

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nr 1

103-111

EN

The purpose of this study was to examine the association of the BstUI RFLP C/T (rs 12722) and DpnII RFLP C/T (rs 13946) COL5A1 polymorphisms, individually and as haplotypes, with anterior cruciate ligament ruptures in recreational skiers. Subjects were 138 male recreational skiers with surgically diagnosed primary anterior cruciate ligament ruptures. The control group consisted of 183 apparently healthy male recreational skiers, who were without any self-reported history of ligament or tendon injury. DNA was extracted from buccal cells donated by the subjects and genotyping was carried out using real-time PCR. The genotype distributions for both polymorphisms met Hardy- Weinberg expectations in both groups. There were no significant differences in genotype distribution of allele frequencies of COL5A1 BstUI RFLP C/T and COL5A1 DpnII RFLP C/T polymorphisms between the ACL rupture and control groups. The T-T (BstUI RFLP T, DpnII RFLP T) haplotype was the most common (55.6%). The haplotype T-C was not present in any of the subjects. There was an underrepresentation tendency of the C-T haplotype in the study group compared to controls under recessive mode of inheritance. Higher frequency of the COL5A1 BstUI RFLP C/T and COL5A1DpnII RFLP C/T polymorphisms haplotype is associated with reduced risk of anterior cruciate ligament injury in a group of apparently healthy male recreational skiers.

5

Molecular basis of mechanisms of steroid resistance in children with nephrotic syndrome

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Świerczewska M. , Ostalska-Nowicka D. , Kempisty B. , Nowicki M. , Zabel M.

Acta Biochimica Polonica

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2013

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tom 60

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nr 3

339-344

EN

Steroid therapy, due to a wide range of anti-inflammatory properties of steroids, is a basic field of treatment in many human diseases including the nephrotic syndrome in children. However, not all patients respond positively to therapy which divides them into steroid sensitive (SS) and steroid resistance (SR) individuals. Many potential factors associated with steroid resistance have been identified so far. It seems that genetic factors associated with glucocorticoid receptor α (GRα), the structure of heterocomplex of GR as well as glycoprotein P or cytochrome P450 may play a role in the induction of glucocorticoid resistance. Here we described several of the molecular mechanisms, which can regulate glucocorticoid sensitivity and resistance. Moreover, we presented genetic defects, which can lead to various effects of treatment and, in a longer perspective, enable clinicians to individualize therapies.

6

Association of Polymorphism of Lys589glu Exo1 Gene with the Risk of Colorectal Cancer in the Polish Population

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Kabziński J. , Przybylowska K. , Mik M. , Sygut A. , Dziki Ł. , Dziki A. , Majsterek I.

Polish Journal of Surgery

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2015

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tom 86

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nr 8

370-373

EN

The incidence of colorectal cancer (CRC) is increasing from year to year. Despite intensive research CRC etiology remains unknown. Studies suggest that at the basis of the process of carcinogenesis can lie reduced efficiency of DNA repair mechanisms, often caused by polymorphisms in DNA repair genes. The aim of the study was to determine the relationship between gene polymorphism Lys589Glu of EXO1 gene and modulation of the risk of colorectal cancer in the Polish population. Determination of the molecular basis of carcinogenesis process and predicting increased risk will allow qualifying patients to increased risk group and including them in preventive program. Material and methods. The material used in study was blood collected from 130 patients diagnosed with colorectal cancer. The control group consisted of 135 healthy people. Genotyping was performed by TaqMan method. Results. The results obtained indicate that the genotype Lys/Glu is associated with an increased risk of colorectal cancer (OR 1.811, 95% Cl 1.031-3.181, p = 0.038). Conclusion. On the basis of these results, we conclude that Exo1 gene polymorphism Lys589Glu may be associated with an increased risk of colorectal cancer.

7

Heme oxygenase-1 expression in disease states.

88%

Deshane J. , Wright M. , Agarwal A.

Acta Biochimica Polonica

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2005

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tom 52

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nr 2

273-284

EN

Heme oxygenase-1 (HO-1) is an enzyme which catalyzes the rate-limiting step in heme degradation resulting in the formation of iron, carbon monoxide and biliverdin, which is subsequently converted to bilirubin by biliverdin reductase. The biological effects exerted by the products of this enzymatic reaction have gained much attention. The anti-oxidant, anti-inflammatory and cytoprotective functions associated with HO-1 are attributable to one or more of its degradation products. Induction of HO-1 occurs as an adaptive and beneficial response to several injurious stimuli including heme and this inducible nature of HO-1 signifies its importance in several pathophysiological disease states. The beneficial role of HO-1 has been implicated in several clinically relevant disease states involving multiple organ systems as well as significant biological processes such as ischemia-reperfusion injury, inflammation/immune dysfunction and transplantation. HO-1 has thus emerged as a key target molecule with therapeutic implications.

8

Combined effects of NQO1 Pro187Ser or SULT1A1 Arg213His polymorphism and smoking on bladder cancer risk: Two meta-analyses

75%

Wang X.-C. , Wang J. , Tao H.-H. , Zhang C. , Xu L.-F.

International Journal of Occupational Medicine and Environmental Health

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2017

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tom 30

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nr 5

791-802

EN

Objectives Objectives: Cigarette smoking is the major risk factor of bladder cancer via exposure to chemical carcinogens. Nicotinamide adenine dinucleotide phosphate (NADP+): quinine oxidoreductase 1 (NQO1) and sulfotransferase 1A1 (SULT1A1) have been reported to involve in the metabolism of polycyclic aromatic hydrocarbons (PAHs) and aromatic amines. Therefore, the risk of bladder cancer (BC) may be influenced by polymorphisms in the genes that modulate metabolic detoxification in particular by interacting with cigarette smoking. Considering the limited power by the individual studies with a relatively small sample size, especially when analyzing the combined effect of polymorphisms in NQO1 and SULT1A1 genes and smoking, these 2 meta-analyses have aimed to clarify the combined effects of them on BC risk by integrating related studies. Material and Methods Two meta-analyses included 1341 cases and 1346 controls concerning NQO1 Pro187Ser and smoking, and 1921 cases and 1882 controls on SULT1A1 Arg213His and smoking were performed. Odds ratios (OR) and 95% confidence intervals (CI) were used for assessing the strength of the association. Results The result has demonstrated that smokers with NQO1 Pro/Ser or Ser/Ser genotypes have a prominent association with the risk of BC as compared with non-smokers with NQO1 Pro/Pro genotype, with OR equal to 3.71 (95% CI: 2.87–4.78, $ \text{p}_\text{heterogeneity} $ = 0.376). Besides, smokers carrying SULT1A1 Arg/Arg genotypes were observed to confer 2.38 fold increased risk of BC (95% CI: 1.44–3.93, $ \text{p}_\text{heterogeneity} $ = 0.001) when compared with non-smokers with SULT1A1 Arg/Arg or His/His genotypes. Conclusions These findings have suggested that the NQO1 Pro187Ser or SULT1A1 Arg213His polymorphism combination with smoking significantly confer susceptibility to BC. Int J Occup Med Environ Health 2017;30(5):791–802

9

Adiponektyna oraz polimorfi zmy genu apM1 a występowanie nadwagi i otyłości u pacjentów zgłaszających się do poradni ogólnej POZ

63%

Gola M. , Grzeszczak W.

Annales Academiae Medicae Silesiensis

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2012

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tom 66

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nr 6

27-36

EN

AIM The primary objective of the study, which is the basis of this thesis, was to evaluate the potential association between selected apM1 polymorphisms and the plasmatic concentrations of adiponectin and the incidence of overweight and obesity in the population of patients visiting general outpatient clinics of primary medical care. MATERIAL AND METHODS The reported study comprised a total of 510 adult patients (287 men and 223 women) from the region of southern Poland, who had subsequently sought medical counselling at a general outpatient clinic of primary care. The examined subjects were divided into three (3) groups, following waist circumference values. The control group consisted of patients with a waist circumference <94 cm for men and <80 cm for women. All the subjects had fasting serum concentrations of glucose, insulin, total cholesterol, HDL/LDL fractions, triglycerides, creatinine and adiponectin and genotyping of Y111H (rs17366743), +45 T>G (rs2241766) and +276 G>T (rs1501299) polymorphisms of the adiponectin gene. RESULTS The serum glucose and insulin concentrations in the overweight and obese subjects were statistically signifi cantly higher vs. those in the control group (p < 0.001). The serum adiponectin concentrations in the obese patients were signifi cantly lower vs. those in the overweight subjects (p < 0.001) or those without any excess weight (p < 0.001). Signifi cantly higher values of the HOMA-IR factor were found in both the obese and the overweight patients (p for correlation between either group < 0.01). A strong correlation was observed between the waist circumference and adiponectin levels. It was demonstrated that the adiponectin concentration in the blood decreased with a waist circumference increase (p < 0.001). A similarly strong correlation was noted between the adiponectin levels and BMI (body mass index) values (p < 0.001). The MAF values for the Y111H, +45 T/G and +276 G/T polymorphisms were 0.017, 0.098 and 0.287, respectively. No statistically signifi cant diff erences were demonstrated in the distribution of genotypes between the studied groups for the apM1 Y111H (chi2 = 2.61; p = 0.2706), apM1 +45 T/G (chi2 = 2.10; p = 0.7179) and apM1 +276 G/T (chi2 = 7.93; p = 0.0941) polymorphisms. However, statistically signifi cant diff erences were visualised in the distribution of alleles for the apM1 +276 G/T (chi2 = 6.10; p < 0.05) polymorphism. CONCLUSIONS The results of the reported study confi rm the existence of a strong, negative correlation between the adiponectin levels in the blood and waist circumference or BMI values, also described in a number of literature reports. 2. The apM1 Y111H, +45 T/G and +276 G/T polymorphisms, and in particular the fi rst one, are very rarely found in the Polish population. 3. No correlation was demonstrated between the studied polymorphisms and the incidence of overweight and obesity and serum adiponectin concentration. 4. In the population of subjects with an average GFR = 81.53 ml/min/1.73 m2, the adiponectin concentration positively correlates with glomerular fi ltration values.

PL

CEL PRACY Głównym celem niniejszej pracy była ocena potencjalnego związku między wybranymi polimorfizmami genu apM1 oraz osoczowym stężeniem adiponektyny a występowaniem nadwagi i otyłości w populacji pacjentów zgłaszających się do poradni ogólnej podstawowej opieki zdrowotnej (POZ). MATERIAŁ I METODY Badaniem objęto łącznie 510 dorosłych pacjentów (287 mężczyzn i 223 kobiety) z rejonu Polski Południowej, którzy kolejno zgłaszali się do poradni ogólnej POZ. Badanych podzielono na 3 grupy, zależnie od wartości obwodu pasa. Grupę kontrolną stanowili pacjenci z obwodem talii < 94 cm (mężczyźni) oraz < 80 cm (kobiety). U wszystkich osób oznaczano na czczo w surowicy stężenia glukozy, insuliny, cholesterolu całkowitego, frakcji HDL i LDL, triglicerydów, kreatyniny oraz adiponektyny oraz określono polimorfizmy Y111H (rs17366743), +45 T > G (rs2241766) oraz +276 G > T (rs1501299) genu adiponektyny. WYNIKI W surowicy osób z nadwagą i otyłych stwierdzono istotnie statystycznie wyższe stężenia glukozy i insuliny w stosunku do osób z grupy kontrolnej (p < 0,001). Stężenia adiponektyny w surowicy pacjentów otyłych były istotnie niższe niż u osób z nadwagą (p < 0,001) oraz bez nadwagi (p < 0,001). Zarówno u osób otyłych, jak i z nadwagą stwierdzono znamiennie wyższe wartości wskaźnika insulinooporności HOMA-IR (p dla korelacji pomiędzy każdą z grup < 0,01). Wykazano, że stężenie adiponektyny we krwi maleje wraz ze wzrostem obwodu talii (p < 0,001). Podobnie silną korelację odnotowano między poziomem adiponektyny a wartościami wskaźnika BMI (p < 0,001). Wartości MAF dla polimorfizmów Y111H, +45 T/G oraz +276 G/T wynosiły odpowiednio: 0,017, 0,098 oraz 0,287. Nie wykazano istotnych statystycznie różnic w rozkładzie badanych genotypów między badanymi grupami dla polimorfizmu apM1 Y111H (chi2 = 2,61; p = 0,2706), apM1 +45 T/G (chi2 = 2,10; p = 0,7179) oraz apM1 +276 G/T (chi2 = 7,93; p = 0,0941). Uwidoczniono jednak istotne statystycznie różnice w rozkładzie alleli dla polimorfizmu apM1 +276 G/T (chi2 = 6,10; p < 0,05). Rozkład alleli i genotypów dla polimorfizmów Y111H oraz +45 T/G nie pozwalał na przeprowadzenie wiarygodnych analiz statystycznych. WNIOSKI 1. U badanych z nadwagą i otyłością występuje ujemna korelacja między obwodem talii a stężeniem adiponektyny. 2. Wykazano jednak istotne statystycznie różnice w rozkładzie alleli dla polimorfizmu apM1 +276 G/T pomiędzy badanymi grupami. 3. Nie wykazano zależności pomiędzy występowaniem poszczególnych polimorfizmów a stężeniem adiponektyny w surowicy. 4. Stężenie adiponektyny we krwi koreluje ujemnie z insulinemią i insulinoopornością oraz dodatnio z wielkością filtracji kłębuszkowej.

10

ACTN-3 and ACE genotypes in elite male Italian athletes

63%

Massidda M. , Corrias L. , Scorcu M. , Vona G. , Calò M. C.

Anthropological Review

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2012

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tom 75

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nr 1

51-59

EN

The ACE I/D and the ACTN-3 R577X polymorphisms are the most studied genes associated with elite athlete status, even if this association has been often conflicting. The aim of the present study was to investigate the association between the ACE and the ACTN3 genotypes and elite performance in Italian male athletes. The ACTN-3 R577X and the ACE I/D genotype distributions of 59 elite male Italian athletes practicing gymnastics (G; n = 17), 100 m-400 m running (R; n = 12), and playing soccer (S; n= 30) were compared with controls from Italian (C; n = 31) populations. For ACE distribution, athletes did not differ from controls (G, χ2 = 0.37, df = 2, p = 0.82; R, χ2 = 1.90, df = 2, p = 0.45; S, χ2 = 1.48, df = 2, p = 0.47) and the DD genotype was at very high frequency in all groups (G = 53%, R= 50%, S = 60%, C = 45%). For ACTN-3 distribution, elite gymnasts showed a significant difference from controls (χ2 = 6.57, df = 2, p = 0.03), showing an absence of XX genotype. Soccer players and runners did not differ from controls in ACTN-3 genotype distribution (R, χ2 =0.43, df = 2, p = 0.80; S, χ2 = 1.25, df = 2, p = 0.53). Even if the ACE DD genotype is often positively associated with elite sprint/power athlete status, its high frequency in Italian populations eliminates the possibility of its exclusive association in Italian athletes. The results of ACTN3 genotypes suggest that RR genotype of ACTN-3 gene is a determinant of elite gymnasts status but it is not the key factor for achieving a top-level performance in soccer or track events.