RR Genotype Research Articles

Association between ACTN3 R577x and the physical performance of Chinese 13 to 15-year-old elite and sub-elite football players at different positions.

The purpose of this study was to investigate the prevalence of ACTN3 polymorphisms in Chinese elite and sub-elite football players aged 13-15years at different positions. Specifically we explored whether ACTN3 genotypes were linked with athletic performance of elite and sub-elite players at different positions. The RR genotype frequency of elite defenders (p = 0.018) and midfielders (p = 0.008) was significantly higher than that of sub-elite XX genotype in elite players. Furthermore, the R allele frequency of elite defenders (p = 0.003) and midfielders (p = 0.008) was significantly higher than that of sub-elite players. In all subjects, RR players performed faster and exhibited more explosive power than RX or XX players. RR, RX and XX elite players' 20m/30m sprint, 5 × 25-m repeated sprint ability (5 × 25m RSA), and standing long jump were stronger than sub-elite players, but there was no significant different in aerobic endurance between elite and sub-elite players at different positions. In conclusion, there were significant differences in ACTN3 genotypes and alleles between elite and sub-elite players at different positions, and the RR genotype was significantly associated with power-related athletic performance in Chinese youth football players.

Association of APOE (rs429358 and rs7412) and PON1 (Q192R and L55M) Variants with Myocardial Infarction in the Pashtun Ethnic Population of Khyber Pakhtunkhwa, Pakistan.

Coronary Artery Diseases (CAD) remains the top among Non-communicable Diseases (NCDs). Variations in Apolipoprotein E (APOE) and Paroxonase 1 (PON1) have been associated with Myocardial Infarction (MI) in several populations. However, despite the high prevalence of CAD, no such study has been reported in the Pashtun ethnic population of Pakistan. We have conducted a two-stage (i.e., screening and validation) case-control study in which 200 cases and 100 control subjects have been recruited. In the first stage, Whole Exome Sequencing (WES) was used to screen for pathogenic variants of Myocardial Infarction (MI). In the second stage, selected variants of both APOE and PON1 genes (rs7412, rs429358, rs854560, and rs662) were analyzed through MassARRAY genotyping. Risk Allele Frequencies (RAFs) distribution and association of the selected SNPs with MI were determined using the Chi-square test and logistic regression analysis. WES identified a total of 12 sequence variants in APOE and 16 in PON1. Genotyping results revealed that APOE variant rs429358 (ɛ4 allele and ɛ3/ɛ4 genotype) showed significant association in MI patients (OR = 2.11, p value = 0.03; 95% CI = 1.25-2.43); whereas no significant difference (p˃ 0.05) was observed for rs7412. Similarly, the R allele of PON1 Q192R (rs662) was significantly associated with cases (OR = 1.353, p value = 0.048; 95% CI = 0.959-1.91), with particular mention of RR genotype (OR = 1.523, p value = 0.006; 95% CI = 1.087-2.132). Multiple logistic regression analysis showed that rs429358 (C allele) and rs662 (R allele) have a significantly higher risk of MI after adjustment for the conventional risk factors. Our study findings suggested that the rs429358 variant of APOE and PON1 Q192R are associated with MI susceptibility in the Pashtun ethnic population of Pakistan.

Association between basketball playing position and ACTN3 R577X polymorphism in athletes of first division Brazilian Basketball League

IntroductionGenetic-association studies have shown that some polymorphisms are associated with different aspects of athletic performance, including very specific features, such as players’ position in team sports, like soccer, rugby, and Australian football. However, this type of association has not been investigated in Basketball yet. The present study analyzed the association of ACTN3 R577X, AGT M268T, ACE I/D and BDKRB2+9/−9 polymorphisms with the position of basketball players. MethodsOne hundred fifty-two male athletes from 11 teams of the first division of Brazilian Basketball League and 154 male Brazilian controls were genotyped. The analyses of the ACTN3 R577X and AGT M268T were performed by the allelic discrimination method, while ACE I/D and BDKRB2+9/−9 by conventional PCR followed by electrophorese in agarose gel. ResultsThe results showed a significant effect of height on all positions and an association between the genetic polymorphisms analyzed and basketball positions. In addition, a significantly higher frequency of ACTN3 577XX genotype was observed in Point Guards. Also, compared to Point Guard, ACTN3 RR and RX were more prevalent in the Shooting Guard and Small Forward group and RR genotype was also more prevalent in the Power Forward and Center group. ConclusionThe main finding of our study was the positive association of ACTN3 R577X polymorphism and basketball playing position, and a suggestion of genotypes related to strength/power performance with post players and genotypes related to endurance performance with point guard players.

The association of paraoxonase I gene polymorphisms Q192R (rs662) and L55M (rs854560) and its activity with metabolic syndrome components in fars ethnic group.

Metabolic syndrome (MetS) may cause premature development of some diseases. PON1 genes may be involved in the pathogenesis of MetS. The aim of study was to evaluate the association between Q192R and L55M gene polymorphisms and its enzyme activity with the MetS components in subjects with and without MetS. Polymerase Chain Reaction and Restriction Fragment Length Polymorphism analysis were performed to determine polymorphisms of the paraoxonase1 gene in subjects with and without metabolic syndrome. Biochemical parameters were measured by spectrophotometer. The MM, LM, and LL genotype frequencies of the PON1 L55M polymorphism were 10.5, 43.4, and 46.1%, and 22.4, 46.6, and 31% and; the QQ, QR, and RR genotype frequencies of the PON1 Q192R polymorphism were 55.4, 38.6 and 6%; and 56.5, 34.8 and 8.7% in subjects with and without MetS, respectively. The L and M allele frequencies were 68 and 53%; and 32 and 47% for PON1 L55M in subjects with and without MetS, respectively. The Q and R allele frequencies for PON1 Q192R were 74 and 26% in both groups. There were significant differences in HDL-cholesterol level and PON1 activity in the genotypes QQ, QR, and RR of the PON1 Q192R polymorphism in subjects with MetS. The PON1 Q192R genotypes had only effected on PON1 activity and HDL-cholesterol level in subjects with MetS. Different genotypes of the PON1 Q192R seem to be important candidates to make the subjects susceptible to MetS in the Fars ethnic group.

IL-4 RECEPTOR ALPHA CHAIN Q576R RR GENOTYPE IS ASSOCIATED WITH INCREASED MARKERS OF TYPE 2 INFLAMMATION IN ASPIRIN EXACERBATED RESPIRATORY DISEASE

In the US, chronic rhinosinusitis with nasal polyps (CRSwNP) is characterized by elevated levels of IL-4 and IL-13. Several single nucleotide polymorphisms within the gene encoding for the shared IL-4 receptor alpha chain have been identified, including Q576R (c.1727A>G). The frequency of the RR genotype was significantly higher among asthmatics and the variant was associated with more severe lower airway disease. The impact of the RR genotype in CRSwNP is unclear.

The association of the paraoxonase 1 Q192R polymorphism with coronary artery disease (CAD) and cardiometabolic risk factors in Iranian patients suspected of CAD.

The present study aimed to investigate the association of the paraoxonase 1 (PON1) Q192R polymorphism with coronary artery disease (CAD) and cardiometabolic risk factors in Iranian patients suspected of CAD. This cross-sectional study was conducted on 428 patients undergoing angiography. The data related to demographic information and physical activity were collected by valid and reliable questionnaires. The PON-1 genotypes were detected by the polymerase chain reaction-restriction fragment length polymorphism (RFLP-PCR) technique. The Gensini and SYNTAX score, anthropometric measurements, and biochemical and clinical parameters were measured by standard protocols. Findings indicated that the odds of obesity was significantly higher in people with the RR genotype compared to the QQ genotype carriers (OR: 2.95 CI: 1.25-6.93, P = 0.014) and also odds of low high-density lipoprotein cholesterol (HDL-C) was marginally higher (OR: 2.31 CI: 0.97-5.49, P = 0.056). There was no significant association between other CAD risk factors with PON1 Q192R polymorphism (P > 0.05). Further analysis showed a significant interaction between sex and 192QR (P = 0.019) and 192 RR (P = 0.007) genotypes on body mass index (BMI). More specifically, the risk of obesity in men carrying the RR genotype was 3.38 times (OR: 3.38 CI: 1.08-10.58, P = 0.036). Also, a significant joint effect of the RR genotype and sex on HDL-C was seen (P = 0.003). The stratification based on sex showed that the risk of low HDL-C is significantly higher in women carrying the RR genotype (OR: 6.18 CI: 1.21-31.46, P = 0.028). A marginal sex-genotype interaction was also found in the risk of elevated alanine aminotransferase (ALT) (P = 0.057). In summary, the findings showed that the risk of obesity and low HDL-C was higher in people carrying the RR genotype. On the other hand, a Q192R polymorphism-sex interaction was observed on the risk of obesity, elevated ALT, and low HDL-C.

Morphometric measurements and carcass characteristics of Black Australorp, Naked Neck, and Rhode Island Red crossbreds under alternative production systems.

The present trial explained the effect of alternative production systems on growth, morphometric and carcass traits of four different chicken genotypes. The second generation of two genotypes RNN (Rhode Island Red × Naked Neck) and BNN (Black Australorp × Naked Neck) obtained by two self-crosses (RNN × RNN = RR and BNN × BNN = BB) and two reciprocal crosses (RNN × BNN = RB and BNN × RNN = BR) were evaluated in three alternative production systems (conventional cages, enriched cages, and aviary). At the 6th week of age after sexing, a total of 600 birds, comprising 150 from each crossbred with a total of 300 pullets and 300 cockerels were divided into conventional cages, enriched cages, and aviary systems having 200 birds in each.Birds were organized into 3×4 factorial arrangements under Completely Randomized Design (3 production systems × 4 genotypes × 2 sexes × 25 birds = 600 birds). Regarding genotypes, RB and BR males showed higher (p < 0.01) carcass yield, drumstick weight, breast weight, and thigh weight than BB and RR genotypes. Females of BR genotype showed higher (p < 0.01) breast weight, thigh weight and drumstick weight. As far as production systems are concerned, higher (p < 0.01) liver weight, heart weight, breast weight, intestinal weight, drumstick weight, and thigh weight were observed in the males reared in enriched cages compared with conventional cages and aviary system. Females reared in enriched cages showed higher (p < 0.01) heart weight, breast weight, intestinal weight, drumstick weight, and thigh weight when compared with those reared in conventional cages and aviary. It is concluded that chickens (both sexes) of BR and RB genotypes had better morphological measurements and carcass traits than those of RR and BB genotype chickens. Among alternative production systems, chickens reared in enriched cages had better traits than those of reared in conventional cages and aviary during the growing phase.

Association between Q192R Polymorphism of Paraoxonase-1 Gene and Risk of Coronary Artery Disease: A Case-control Study

Introduction: Coronary Artery Disease (CAD) is a complex metabolic disorder in which lifestyle and genetic factors are known to play key roles in pathogenesis. Extensive studies have examined the role of Paraoxonase 1 (PON1) polymorphisms as genetic markers of CAD. However, the evidence regarding their role in the aetiology of CAD remains contradictory. Aim: The aim of this study was to determine the genotypic/ allelic frequency of the Q192R polymorphism of the PON1 gene and its association with the risk of CAD. Materials and Methods: A case-control study was conducted at the Department of Biochemistry in collaboration with the Department of Medicine, Sri Guru Ram Das Institute of Medical Sciences and Research, Amritsar, Punjab, India, from November 2019 to December 2022. A total of 100 participants were divided into two groups: group I (CAD patients) and group II (healthy controls) to investigate the association between the Q192R polymorphism and CAD risk. The genotypic and allelic frequencies of the Q192R polymorphism of the PON1 gene and its association with CAD were determined using Polymerase Chain Reaction and Restriction Fragment Length Polymorphism (PCR-RFLP), followed by 2% agarose gel electrophoresis. The data were statistically analysed using the Chi-square test. Results: There were a total of 50 participants in each group (29 males and 21 females), with a mean age of 47.02±8.79 years in group I and 37.70±7.29 years in group II (p-value&lt;0.001). The present study confirmed that individuals with QR+RR genotype compared to QQ genotype (OR: 2.47; 95% CI: 1.10-5.55; p-value=0.03) of the Q192R polymorphism were associated with an increased risk of CAD. A higher frequency of the RR genotype of the Q192R polymorphism was detected in CAD patients, and it was associated with a 3-fold increased risk of developing CAD (p-value&lt;0.05). However, the difference between QR versus QQ genotypes {Odds Ratio (OR): 2.13; 95% CI: 0.89-5.12, p-value=0.09} was found to be statistically insignificant. Furthermore, a significantly higher frequency of the R allele was observed in CAD patients compared to controls (OR 2.12, 95% CI: 1.18-3.84, p-value=0.01). Conclusion: In conclusion, the Q192R polymorphism of the PON1 gene was associated with an increased risk of CAD in the Punjabi population. The results confirmed that the presence of the R allele was associated with an increased risk of CAD.

Genotype Distribution of the ACTN3 p.R577X Polymorphism in Elite Badminton Players: A Preliminary Study.

α-Actinin-3 is a protein with a structural role at the sarcomeric Z-line in skeletal muscle. As it is only present in fast-type muscle fibers, α-actinin-3 is considered a key mechanical component to produce high-intensity muscle contractions and to withstand external tension applied to the skeletal muscle. α-Actinin-3 is encoded by the gene ACTN3, which has a single-nucleotide polymorphism (p.R577X; rs1815739) that affects the expression of α-actinin-3 due to the presence of a stop codon. Individuals homozygous for the 577R allele (i.e., RR genotype) and RX heterozygotes express functional α-actinin-3, while those homozygous for the 577X (i.e., XX genotype) express a non-functional protein. There is ample evidence to support the associations between the ACTN3 genotype and athletic performance, with higher frequencies of the 577R allele in elite and professional sprint and power athletes than in control populations. This suggests a beneficial influence of possessing functional α-actinin-3 to become an elite athlete in power-based disciplines. However, no previous investigation has determined the frequency of the ACTN3 genotypes in elite badminton players, despite this sport being characterized by high-intensity actions of intermittent nature such as changes of direction, accelerations, jumps and smashes. The purpose of this study was to analyze ACTN3 R577X genotype frequencies in professional badminton players to establish whether this polymorphism is associated with elite athlete status. A total of 53 European Caucasian professional badminton players competing in the 2018 European Badminton Championships volunteered to participate in the study. Thirty-one were men (26.2 ± 4.4 years) and twenty-two were women (23.4 ± 4.5 years). Chi-squared tests were used to analyze the differences in the distribution of ACTN3 genotypes (RR, RX and XX) between categories and sexes. The ACTN3 RR genotype was the most frequent in the sample of professional badminton players (RR = 49.1%, RX = 22.6% and XX = 28.3%). None of the badminton players ranked in the world's top ten possessed the XX genotype (RX = 60%, RR = 40%). The distribution of the ACTN3 genotypes was similar between male and female professional badminton players (men: RR = 45.2%, RX = 25.8% and XX = 29.0%; women: RR = 54.5%, RX = 18.2% and XX = 27.3%; χ2 = 0.58; p = 0.750). The distribution of the ACTN3 genotypes in badminton players was different from the 1000 genome database for the European population (χ2 = 15.5; p &lt; 0.001), with an overrepresentation of the RR genotype (p &lt; 0.05) and an underrepresentation of the RX genotype (p &lt; 0.01). In conclusion, the expression of functional α-actinin-3, associated with RR and RX genotypes in the ACTN3 gene may confer an advantage for reaching the status of elite athlete in badminton, and especially the world's top-ten ranking. Large-scale studies with different ethnic backgrounds are needed to confirm the association of the R allele of ACTN3 with badminton performance.

Reproductive ability of cows of domestic dairy breeds with different allelic variants of the leptin gene

Conducting genetic studies of domestic local breeds of cattle is relevant due to the fact that they are carriers of valuable economic traits and have a high adaptive ability to local conditions. The aim of the research is to study the association of polymorphic variants of the leptin gene with the reproductive ability of cattle of the Kostroma, Black-and-White and Yaroslavl breeds bred in the Kostroma region. Genotyping was performed by real-time polymerase chain reaction (RT-PCR) using HRM analysis. It was found that in the Kostroma and Yaroslavl breeds, the AV genotype (0.546 and 0.452, respectively) had the highest frequency for the LEP-A80V locus, and the AA genotype (0.550) in the Black-and-White breed. In terms of polymorphism Y7F of the leptin gene, the YY genotype prevailed among animals of all the studied breeds of cows. For the LEP-R25C locus, the highest frequency of occurrence was recorded in individuals with the RC genotype (0.486), while in cattle of the Yaroslavl and Black-and-White breeds, the RR genotype (0.690 and 0.483, respectively). However, no statistically significant differences were found in terms of reproductive ability between cows of different genotypes for the leptin gene. There is reason to believe that in cattle of the Kostroma breed the desired genotype is AV, in Yaroslavl cattle it is AA (LEP-A80V), and in Black-and-White cattle it is RR (LEP-R25C). The observed tendencies towards the presence of higher reproductive qualities in the carriers of the LEP-A80VA and LEP-R25CR alleles in the studied cattle breeds are confirmed by the studies of other authors. Therefore, the study of the effect of leptin gene polymorphism on the reproductive abilities of cows of domestic dairy breeds must be continued with the involvement of a significantly larger number of animals.

QTL Analysis and CAPS Marker Development Linked with Russet in Pear (Pyrus spp.).

The fruit skin types of pear (Pyrus spp.) are divided into russet, smooth, and intermediate. One of the important traits in pear breeding programs is russet on pear fruit skin because it affects the commercial value. In the present study, a high-density genetic linkage map of ‘Whangkeumbae’ (smooth) × ‘Minibae’ (russet) was constructed. In addition, quantitative trait loci (QTL) analysis was performed to identify russet related QTL and develop a cleaved amplified polymorphism sequence (CAPS) marker. Together with SNPs derived from Axiom Pear 70K Genotyping Array and genotyping-by-sequencing derived SNPs and SSRs generated in previous study, an integrated genetic linkage map of ‘Whangkeumbae’ × ‘Minibae’ was constructed. A total of 1263 markers were anchored in 17 linkage groups (LGs) with a total genetic distance of 1894.02 cM and an average marker density of 1.48 cM. The chromosome coverage of ‘Whangkeumbae’ × ‘Minibae’ map was improved because the SNPs derived from Axiom Pear 70K Genotyping Array were anchored. QTL analysis was performed using previous russet phenotype data evaluated with russet coverage and Hunter a. As a result of QTL analysis, russet coverage- and Hunter a-related QTLs were identified in LG8 of the ‘Whangkeumbae’ × ‘Minibae’ map, and SNPs located in the QTL region were heterozygous in the ‘Minibae’. Although the russet coverage- and Hunter a-related QTLs were commonly detected in LG8, the logarithm of odds values of SNPs in the QTL region were higher in QTL related to russet coverage than to Hunter a. The CAPS marker (CBp08ca01) was developed using an array SNP located in the russet coverage related QTL, and the genotype of CBp08ca01 showed a 1:1 ratio in ‘Whangkeumbae’ × ‘Minibae’ (χ2 = 0.65, p > 0.05). ‘Whangkeumbae’ and ‘Minibae’ were thought to have rr and Rr genotypes, respectively, and the genetic factors controlling the russet formation might be located in chromosome 8. The CBp08ca01 was able to select F1 individuals with less than 30% russet coverage. Thus, it will be a useful tool for marker-assisted selection in pears.

A Pilot Study on the Prediction of Non-Contact Muscle Injuries Based on ACTN3 R577X and ACE I/D Polymorphisms in Professional Soccer Athletes.

Muscle injuries are among the main reasons for medical leavings of soccer athletes, being a major concern within professional teams and their prevention associated with sport success. Several factors are associated with a greater predisposition to injury, and genetic background is increasingly being investigated. The aim of this study was to analyze whether ACTN3 R577X and ACE I/D polymorphisms are predictors of the incidence and severity of muscle injury in professional soccer athletes from Brazil, individually and in association. Eighty-three professional athletes from the first and second divisions of the Brazilian Championship were evaluated regarding the polymorphisms through blood samples. Nighty-nine muscle injuries were identified during the seasons of 2018, 2019 and 2020 and categorized according to severity. ACTN3 XX individuals had a higher frequency of severe injuries compared to the RX and RR genotypes (p = 0.001), and in the dominant model (compared to RX+RR), with p < 0.001. The trend p-value test showed an increased number of injuries/season following the order XX > RX > RR (p = 0.045). Those with the ACE II genotype had almost 2 fold the number of injuries per season compared to those with the ID+DD genotypes (p = 0.03). Logistic regression showed that the polymorphisms are predictors of the development of severe injury (ACTN3 R577X model with p = 0.004, R2: 0.259; ACE I/D model with p = 0.045, R2: 0.163), where ACTN3 XX individuals were more likely to suffer from severe injury (OR: 5.141, 95% CI: 1.472-17.961, p = 0.010). The combination of the ACTN3 577X allele and the ACE II genotype showed an increased number of injuries per season, enhanced by 100% (1.682 injuries/season versus 0.868 injuries/season, p = 0.016). Our findings suggest that both polymorphisms ACTN3 R577X and ACE I/D (and their interaction) are associated with the susceptibility and severity of non-contact muscle injury in soccer players.

Inheritance and Expression of Koi Color Dominant Mutations in Koi × Goldfish Hybrids

AbstractThe purpose of the study was to investigate the inheritance and expression of the koi color dominant mutations “design” and “red eyes” in koi × Goldfish hybrids (koi Cyprinus carpio × Goldfish Carassius auratus). The mutation “design” manifests as a yellow stripe along the dorsal fin and a specific ornament on the head; this trait is controlled by a dominant allele of one gene (D/d). In four progenies that were obtained by crosses of koi females having the “design” trait with Goldfish males, the segregations of so‐called "ghost fish," having a melanin‐pigmented body with the “design” pattern, and fish having wild‐type color, without the “design” pattern, were close to the Mendelian 1:1 ratio. This indicates that koi females with the “design” trait that are used for the production of these progenies had the genotype Dd, whereas the Goldfish males had the genotype dd. In one progeny that was obtained by crossing a koi female having the “design” trait with a Goldfish male, 420 ghost fish (99.8%) and one fish with wild‐type color (0.2%) were recorded. The koi female from which this progeny originated was apparently homozygous for the dominant allele (genotype DD). Earlier, it was shown that the appearance of red eyes in koi is caused not by the albino mutation, but by another dominant demelanization mutation (R). In three progenies that were obtained by crossing koi females having red eyes with Goldfish males, the segregations of the larvae with unpigmented bodies and light eye lenses and those with dark bodies and black eye lenses were close to 1:1. Later, three types of body color were observed in the juveniles of these progenies: yellow, brown, and wild‐type; all of the juveniles had black eyes. The segregations of colored (yellow + brown) and wild‐type‐color juveniles were close to 1:1. This shows that that the red‐eyed koi females that were used in the crosses were heterozygous (genotype Rr), whereas the Goldfish males had genotype rr. The described colored forms of koi × Goldfish hybrids can be used for weed control.

Association of the ACTN3 rs1815739 Polymorphism with Physical Performance and Injury Incidence in Professional Women Football Players.

The p.R577X polymorphism (rs1815739) in the ACTN3 gene causes individuals with the XX genotype to be deficient in functional α-actinin-3. Previous investigations have found that XX athletes are more prone to suffer non-contact muscle injuries, in comparison with RR and RX athletes who produce a functional α-actinin-3 in their fast-twitch fibers. This investigation aimed to determine the influence of the ACTN3 R577X polymorphism on physical performance and injury incidence of players competing in the women’s Spanish first division of football (soccer). Using a cross-sectional experiment, football-specific performance and epidemiology of non-contact football-related injuries were recorded in a group of 191 professional football players. ACTN3 R577X genotype was obtained for each player using genomic DNA samples obtained through buccal swabs. A battery of physical tests, including a countermovement jump, a 20 m sprint test, the sit-and-reach test and ankle dorsiflexion, were performed during the preseason. Injury incidence and characteristics of non-contact injuries were obtained according to the International Olympic Committee (IOC) statement for one season. From the study sample, 28.3% of players had the RR genotype, 52.9% had the RX genotype, and 18.8% had the XX genotype. Differences among genotypes were identified with one-way analysis of variance (numerical variables) or chi-square tests (categorical variables). Jump height (p = 0.087), sprint time (p = 0.210), sit-and-reach distance (p = 0.361), and dorsiflexion in the right (p = 0.550) and left ankle (p = 0.992) were similar in RR, RX, and XX football players. A total of 356 non-contact injuries were recorded in 144 football players while the remaining 47 did not sustain any non-contact injuries during the season. Injury incidence was 10.4 ± 8.6, 8.2 ± 5.7, and 8.9 ± 5.3 injuries per/1000 h of football exposure, without differences among genotypes (p = 0.222). Injury rates during training (from 3.6 ± 3.7 to 4.8 ± 2.1 injuries per/1000 h of training exposure, p = 0.100) and match (from 47.8 ± 9.5 to 54.1 ± 6.3 injuries per/1000 h of match exposure, p = 0.209) were also similar in RR, RX, and XX football players. The ACTN3 genotype did not affect the mode of onset, the time needed to return to play, the type of injury, or the distribution of body locations of the injuries. In summary, women football players with different genotypes of the p.R577X ACTN3 polymorphism had similar values of football-specific performance and injury incidence. From a practical perspective, the ACTN3 genotyping may not be useful to predict performance or injury incidence in professional women football players.

The Effect of Selected Polymorphisms of the ACTN3, ACE, HIF1A and PPARA Genes on the Immediate Supercompensation Training Effect of Elite Slovak Endurance Runners and Football Players.

We aimed to evaluate the effect of selected polymorphisms of the ACTN3, ACE, HIF1A and PPARA genes on the immediate supercompensation training effect of elite Slovak endurance runners and football players compared with a sedentary control group. Adaptation effect levels were evaluated by 10 s continuous vertical jump test parameters measured by Optojump. Genetic polymorphisms were determined by PCR and Sanger sequencing. We found significant differences in the effect of PPARA genotypes in the experimental group. C allele genotypes represented an advantage in immediate supercompensation (p < 0.05). We observed a significant combined effect of multiple genes on immediate supercompensation (p < 0.05): the RR genotype of the ACTN3 gene, the ID genotype of the ACE gene, the Pro/Pro genotype of HIF1A, and the GC and GG genotypes of PPARA genes. In the control group, we found a significant effect (p < 0.05) on immediate supercompensation of the II genotype of the ACE gene and the Pro/Ser genotype of the HIF1A gene. We found significant differences in genotype frequency of ACE (p < 0.01) and PPARA (p < 0.001) genes. We confirmed that individual genetic polymorphisms of ACTN3, ACE, HIF1A and PPARA genes have a different effect on the level of immediate supercompensation of the lower limbs depending on the training adaptation of the probands and the combination of genotypes.

Clinical implications of PON1 (rs662) and TNF-α (rs1799964) genes polymorphism in patients with coronary artery disease

BackgroundCoronary artery disease (CAD) is the most common kind of heart problem, currently became one of the leading causes of death worldwide and is predicted to persist so for the next 20 years. The global risk factors to CAD include atherosclerosis, genetic predisposition, environment and the lifestyle. This study is aimed to find out the genotypic association of PON1 (rs662) and TNF-α (rs1799964) genes with CAD among North Indian populations. A total of 330 subjects including 175 CAD cases and 155 healthy controls were enrolled in this study. Single nucleotide polymorphisms were analyzed by polymerase chain reaction and restriction fragment length polymorphism (PCR–RFLP) method. χ2 and Student's t-tests were applied for the comparison of alleles and genotype frequencies in cases and controls. Logistic regression analysis was applied to calculate the 95% confidence intervals and odds ratios (OR) for assessing the association of genotype with disease.ResultsThe PON1 gene QQ, QR, RR genotypes frequencies were 36.57%, 50.29%, 13.14% in CAD cases and 60%, 38.71%, 1.29% in controls, respectively. OR for the genotype QQ, QR, RR was 0.38, 1.6, 11.57 (P < 0.001, P = 0.035, P < 0.001). The TNF-α gene CC, CT, TT genotypes frequencies in cases were 4.57%, 50.29%, 45.14% and controls 3.23%, 46.45%, 50.32%, respectively. OR for CC, CT, TT genotype was 1.437, 1.166, 0.812 (P = 0.531, P = 0.487, P = 0.347). We found significant difference in the genotype and allele frequencies of PON1 gene between cases and control, while no significant difference was observed in TNF-α gene between cases and control.ConclusionsThe PON1 (rs662) gene polymorphisms were significantly associated with an elevated risk of CAD, while no significant association was observed with TNF-α (rs1799964) gene polymorphism and the risk of CAD.

The Association of ACTN3 Rs1815739 Polymorphism with Various Malocclusion Phenotype

A functional polymorphism on the 16th exon of the alpha-actinin-3 gene has an effect on the protein structure and cellular signaling and therefore on muscle contraction. In this study, we aimed to analyze the alpha-actinin-3 rs1815739 polymorphism in 3-dimensional malocclusions and different craniofacial skeletal patterns. Forty-nine volunteering subjects enrolled for the study. Genotyping of alpha-actinin-3 rs1815739 polymorphism was per- formed using real-time polymerase chain reaction. Pre-orthodontic cephalometric radiographs were traced using NemoTech ceph- alometric tracing software. IBM SPSS Statistics for Windows was utilized to carry out statistical analysis. P < .05 was considered to be statistically significant. The respective numbers and the percentages of alpha-actinin-3 rs1815739 polymorphisms for RR, RX, and XX genotypes were 39 (79.6%), 4 (8.2%), and 6 (12.2%), respectively. Twenty-one patients had low angle vertical patterns and 17 patients had Class I and the same number of the patients had Class III facial patterns. But none of these had statistically significant difference in terms of alpha-actinin-3 rs1815739 polymorphism and in vertical or sagittal facial patterns, and mandibular incisor inclination. When we examined the maxillary anteroposterior position, we found a significant difference between rs1815739 polymorphisms (P < .05). Also, we detected a significant difference between rs1815739 polymorphism and maxillary incisor inclination (P < .05). Maxillary incisor inclination and maxillary anteroposterior position are associated with alpha-actinin-3 rs1815739 poly- morphism in a Turkish cohort.

Study of the association of gene polymorphism associated with sports success and risk of occupational diseases in young football players

Annotation. Advances in sports genetics have opened up new opportunities in determining the propensity to perform physical activity of varying intensity and duration, as well as in the diagnosis and prevention of pathologies of athletes whose development is associated with excessive training loads. Detection of gene polymorphism makes it possible to develop personalized schemes for the prevention of various pathologies in athletes. The aim of the study was to study the genetic polymorphisms of the genes ACE (Ins/Del), ACTN3 (R577X), AMPD (Gln12Ter), UCP2 (Arg/Gly) in young football players, which cause individual differences in physical performance and susceptibility to occupational diseases. The object of the study was the genetic material of 24 football boys, the biological material for the study was DNA extracted from buccal epithelial cells. Molecular genetic analysis of genomic DNA was performed by polymerase chain reaction. Statistical surveys were performed using the software STATISTICA 6.1 to determine the average and percentage ratios. As a result of genotyping of young football players, polymorphisms of the I/D gene ACE, R577X of the ACTN3 gene, Gln12Ter of the AMPD gene and Arg/Gly of the UCP2 gene were revealed. For the ACE genotype 16.7%; 16.7%; 66.6% of players had genotypes I/I, I/D and D/D, respectively, while for ACTN3 33.3% had XX, 12.5% had RX, and 54.2% had RR genotypes. A study of the Gln12Ter (C/T) genetic polymorphism of the AMPD gene showed that 83.3% of football boys have the SS genotype. Functionally defective T-allele was found in 10.4% of children. Genotyping of the UCP2 gene (G-866A), a regulator of energy balance, found that 77% of children in this group are carriers of the G allele, and the A allele is present in 23% of boys. Thus, the identified some unfavorable genetic variants will allow to adjust the state of the organism and preventive schemes of pathology, including dental, with the help of individual medical and biological support.

Density-dependent selection and the maintenance of colour polymorphism in barn owls.

The capacity of natural selection to generate adaptive changes is (according to the fundamental theorem of natural selection) proportional to the additive genetic variance in fitness. In spite of its importance for development of new adaptations to a changing environment, processes affecting the magnitude of the genetic variance in fitness-related traits are poorly understood. Here, we show that the red-white colour polymorphism in female barn owls is subject to density-dependent selection at the phenotypic and genotypic level. The diallelic melanocortin-1 receptor gene explained a large amount of the phenotypic variance in reddish coloration in the females ([Formula: see text]). Red individuals (RR genotype) were selected for at low densities, while white individuals (WW genotype) were favoured at high densities and were less sensitive to changes in density. We show that this density-dependent selection favours white individuals and predicts fixation of the white allele in this population at longer time scales without immigration or other selective forces. Still, fluctuating population density will cause selection to fluctuate and periodically favour red individuals. These results suggest how balancing selection caused by fluctuations in population density can be a general mechanism affecting the level of additive genetic variance in natural populations.

Comparison of potential biomarker, ACTN3 rs1815739 polymorphism, for athletic performance of Turkish athletes.

α-Actinin-3 is one of the key components of the Z-line structure of sarcomeres and also have importance in muscle cell signaling processes. Therefore, α-Actinin-3 gene rs1815739 polymorphism is one of the most analysed potential genetic biomarkers in sports genetic studies. We aimed to evaluate the genotypic and allelic distribution of α-Actinin-3 gene rs1815739 polymorphism in Turkish athletes. For this purpose, a total of 131 athletes (39 cyclists, 34 sprinters and distance athletes, 33 volleyball players, 15 bodybuilders and 10 ironmen) and 89 sedentary individuals were enrolled in the study. Genomic DNA from venous blood were isolated by using the PureLink DNA isolation kit by following the manufacturers' instructions. The α-Actinin-3 rs1815739 genotyping was carried out by Real-time PCR using the commercially provided Taqman Genotyping Assay. The statistical evaluations were assessed by the chi-square testing using the GraphPad InStat statistical package. Results showed that cyclists, ironmen and volleyball players showed statistically significant differences in terms of the genotype when compared to the controls. The OR of having the dominant trait (RR genotype vs. RX+XX combined) was 0.5 (95%CI: 0.28-0.91; P= 0.02) which was statistically significant, while the OR of having the recessive trait (XX genotype vs. RR+RX combined) was 3.76 (95%CI: 1.82-7.39; P=0.0002). Our findings indicated that the α-Actinin-3 gene rs1815739 RR genotype was more prevalent in the sprinters and distance athletes. In the bodybuilders, cyclists, and ironmen it was found that they were harboring the RR and RX genotype equally. According to the results, we suggest the α-Actinin-3 rs1815739 as a potential biomarker for personal training programs.