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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.
The aim of this study was to estimate the relations between the CRH-A145G polymorphism and milk production traits (yields of milk, protein, and fat, as well as protein and fat content) in 176 Jersey cows. The genotype and allele frequencies were estimated and they were as follows: AG – 0.31; GG – 0.69; A – 0.16; G – 0.84. Statistical analysis revealed that studied polymorphism significantly affected the fat yield, fat content (P≤0.05) and protein content in milk (P≤0.05). The results indicate that selection for the CRH-A145G AG animals might contribute to increase the value of these traits in Jersey cattle. However, further studies are necessary to verify the results of our study.
Research was carried out on 432 Polish Lowland Sheep (405 ♀ and 27♂) of three varieties: Corriedale, Żelaźnieńska Sheep and Polish Lowland Sheep of Podlasie region. All animals were subjected to gene identifi cation factor insulin – IGF-1, in the assessment of alleles C and T. In conclusion it should be noted that in the three examined varieties of Polish Lowland Sheep showed no polymorphism in exon 3 of the insulin-like growth factor (IGF-1) gene, limiting its scope to determine the allele C, respectively genotype CC. This result indicates the need for further research in this area in “culture” sheep imported and adapted to Polish conditions and the production environment.
In marker-assisted selection (MAS) of dairy cattle certain genes are proposed as potential candidates associated with dairy performance traits. Among different candidates, prolactin receptor gene (PRLR) seems to be promising because of its crucial role in transmitting signal from lactogenic hormones to milk protein gene promoters. In this study nine PCR fragments representing most important functional domains of PRLR were screened for polymorphism. Using SSCP method one SNP (A→C) was found in intron 9. The SNP was deposited in GenBank AY484400 and AY339393 at position of 205 nt, for Jersey and Polish Black-and-White cattle, respectively. Allele frequency was estimated in 186 Polish Black-and-White (0.981 and 0.019 for A and C, respectively) and 138 Jersey (0.812 and 0.188 for A and C, respectively) cows. Preliminary analysis showed no significant associations between PRLR genotypes and milk performance traits. However, Jersey cows of CC genotype produced more milk with higher protein content than those of AA and AC genotypes. Because of the low number of cows of CC genotype, it is necessary to investigate more numerous population of cattle in which all genotypes will be efficiently represented.
Fat-inducing transcript (FIT) are endoplasmic reticulum-resident membrane proteins that induce lipid droplet accumulation. It plays a crucial role in the fundamental process of storing fat. In this study, applying the PCR-SSCP and DNA sequencing methods, polymorphism of the FIT gene were detected. A total of 708 individuals from four Chinese cattle breeds were examined. The results showed that only P5 locus had two SNPs, resulting in a synonymous mutation (NM_001103095: m.199G > T resulting In L124L) and a missense mutation (NM_001103095: m.434G > T resulting in V176L). The associations between polymorphic loci and selected growth traits of indigenous Nangyang cattle were analysed,and significant associations were found in body weight at the age of 12 months and mean daily live weight gain. The body weight at month 12 of life and mean daily live weight gain of individuals with genotype AA were by 3.75% and 4.88% higher than of those with genotype AB, respectively. Hence, it was suggested for the first time, that genotype AA could be regarded as molecular marker for superior body weight and daily live weight gain in Chinese Nanyang cattle.
The adaptation of an athlete to systematic physical exercise has been shown to be determined by a combination of great many genes. The aim of our study was to investigate the dependence of the aerobic capacity parameters in sport on the set of gene polymorphisms. Cardio-respiratory system (CRS) adaptation reactions to exercise of 72 endurance athletes were assessed using the gas analysis. The analysis of the obtained results has shown both single and combined effect of the gene polymorphisms on the aerobic capacity. The impact of 6 polymorphisms on the aerobic performance level was analyzed: Т–786→С polymorphism of the promoter of еNOS gene as well as АСЕ I/D polymorphism, Рго/Ala polymorphism of PPARG gene, G/C polymorphism of PPARA gene, Pro582Ser polymorphism of HIF1α gene, and Ala203Pro polymorphism of PPARGC1B. It was found that a single impact on the HRmax providing АСЕ I/D polymorphism. Individual influence of АСЕ gene accounts for 2% of this index dissipation. Results showed that there is a dependence between the amount the maximum volume of consumed oxygen (VO2max) from the set of gene polymorphisms. Cumulative impact of these polymorphisms in the combination with the individual parameters (gender; qualification; kind of sport) stipulates 71% of dispersion of VO2max value.
The aim of this study was to determine the association between polymorphism located in exon 8 of PPARGC1A gene (Cys430Ser) and carcass quality in pigs. Experiment was carried out on 350 PIC hybrid fatteners. Polymorphism was analyzed using PCR-RFLP method. The frequency of genotypes was as follows: AA – 0.33, AT – 0.57, TT – 0.1, however alleles: A – 0.62, T – 0.38. In the analyzed population loss of Hardy-Weinberg equilibrium was observed (P ≤ 0.01). Statistical analysis showed that only one of the evaluated traits was associated with individual PPARGC1A genotypes. Cooling loss value for pig carcasses with TT genotype was statistically significant (P ≤ 0.05) higher than observed in those with AA and AT genotypes.
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The PPARa gene polymorphism in team sports athletes

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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.
Endothelial nitric oxide synthase (eNOS) is known as mediator of endothelium-dependent vasodilatation. The gene encoding this enzyme is regarded as one of the candidate for risk of developing hypertension. The aim of our study was to investigate whether polymorphism in intron 4 (4a/b) of eNOS gene is associated with hypertension. Gene variants were determined by PCR method among 82 healthy, normotensive and 62 hypertensive individuals. In the group of patients with hypertension as compared to the controls higher frequency of 4a4a+4a4b genotypes (45.2% vs 23.5%) and lower frequency of 4b4b genotype (54.8% vs 76.5%) was observed. The data indicate a significant association between presence of 4a allele of eNOS gene and hypertension in studied population.
Abstract. Lactase-phlorizin hydrolase (LCT), more commonly known as lactase, is an enzyme responsible for cleaving lactose into absorbable monosaccharides, glucose and galactose. LCT deficiency (hypolactasia - HL) is caused by a decreased activity of LCT in the small intestinal villi and potentially results in lactose malabsorption what may lead to the development of clinical symptoms (diarrhea, bloating, flatulence and cramps) and avoiding milk products in the diet. HL is the world's most common enzyme deficiency in humans. HL exists in three distinct forms - congenital, primary and secondary. Adult type hypolactasia (ATH) is the most common phenotype found in human. It is a genetically predetermined physiological condition inherited through an autosomal recessive mode which results in a decline of lactase activity after weaning. ATH is associated with the LCT -13910 C>T polymorphism worldwide, except in Africa. Lactase non-persistence has been observed in individuals with the C/C-13910 genotype, whereas lactase persistence in subjects with remaining allelic variants. Small intestine biopsy is the only diagnostic procedure allowing for the direct measurement of LCT activity, however due to its invasive nature it is hardly accepted by patients. Therefore, LCT status is often inferred simply by assessing the patient's lactose digestion. A lactose tolerance test can be performed after lactose load and then measuring blood glucose concentration or breath hydrogen (preferably hydrogen and methane) expiration. A genetic test of the C/T-13910 polymorphism is also available at present. It is a reliable method in excluding/confirming ATH predisposition. However, it definitely does not assess lactose tolerance or malabsorption.
Graves’ (GD) hyperthyroidism induces accelerated bone turnover that leads to decreased bone mineral density (BMD). The role of the VDR gene in predisposition to primary osteoporosis has been recognized. Recent studies show associations between the VDR gene polymorphisms and susceptibility to autoimmune diseases. Here we analyzed if VDR gene polymorphisms: BsmI, ApaI, TaqI, and Fok I may predispose women with Graves’ hyperthyroidism to BMD reduction or to disease development. The subjects were 75 premenopausal female Polish patients with GD and 163 healthy women. The genotyping was performed by the use of the restriction fragment length polymorphism analysis (RFLP). We studied the association of the VDR polymorphisms and their haplotypes with patients’ BMD and also SNPs and haplotypes association with Graves’ disease. We found a strong linkage disequilibrium for the BsmI, ApaI, and Taq I polymorphims that formed three most frequent haplotypes in Graves’ women: baT (47.9%), BAt (34.9%), and bAT (16.4%). We did not show statistically significant association of analyzed VDR polymorphisms or haplotypes with decreased bone mineral density in Graves’ patients. However, the presence of F allele had a weak tendency to be associated with Graves’ disease (with OR=1.93; 95% CI: 0.97–3.84; p=0.058). In conclusion: VDR gene polymorphisms do not predict the risk of decreased BMD in Polish women with Graves’. It may be speculated that the F allele carriers of the VDR Fok I polymorphism are predisposed to Graves’ disease development
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