RR Genotype Research Articles

The protective effect of the Phe362Tyr mutation in salmon lice’ (Lepeophtheirus salmonis) AChE when exposed to full-scale azamethiphos bath treatments

Organophosphates are applied for medicinal bath treatments of salmon lice (Lepeophtheirus salmonis) infested farmed salmonids. This chemical class remains important despite the development of resistant parasites, due to few available treatment options. The protective effect of the Phe362Tyr mutation in one of the acetylcholinesterase (AChE) genes of L. salmonis has previously been studied in small-scale treatments with the organophosphate azamethiphos. The current study was aimed at investigating the protective effect of this mutation in field treatments of commercial fish farms. In addition the effect of different methods of sampling on the occurrence of salmon lice with zero, one or two copies of Phe362Tyr (homozygote sensitive (SS), heterozygote (RS) and homozygote resistance (RR) respectively) were investigated.Salmon lice were collected prior to and after azamethiphos treatments in four fish farms. The resistance genotypes were determined for each parasite. No SS lice were found in any of the farms post-treatment. Both RR and RS genotypes protected the salmon lice from the effect of azamethiphos, but the protective effect of RR genotype was greater than of RS. The study thereby emphasizes the strong selection pressure towards resistant parasites imposed by an azamethiphos treatment event in farms where resistant parasites are present.The distribution of SS, RS and RR genotypes were not found to differ between lice from different net pens, sampled at different dates or picked off fish of different health statuses in a study with repeated sampling from a single farm.

Associação dos genótipos da ACTN3 aos indicadores de desempenho em atletas juvenis da natação brasileira especialistas em curtas distâncias

Foi objetivo da pesquisa identificar a frequência genotípica da ACTN3 e associa-la ao índice técnico (IT) e ao status de elite em 98 atletas juvenis de natação (16,80 ± 0,63 anos) especialistas em curtas distâncias (≤ 200m). Um grupo controle (GC) com 101 escolares não-atletas (16,52 ± 0,94 anos) foi incluído nas comparações. Os grupos foram analisados sem divisão por sexo. Os atletas foram divididos pelas experiências competitivas em elite (internacionais, n = 15) e sub-elite (nacionais, n = 83). Não verificou-se diferenças significativas (X2) na frequência genotípica entre atletas sub-elite e GC. Os atletas de elite apresentaram supremacia do genótipo RX (60,0%), baixa frequência do genótipo RR (13,3%), supremacia do alelo X (54,2%) e da adição RX+XX (86,7%). O ajuste das frequências genotípicas pelo quartil superior (QS) do IT revelou que os atletas com genótipos RR+RX apresentaram maior pontuação média (820,6 ± 40,0) quando comparados aos atletas XX (806,7 ± 34,8). Atletas de elite do grupo QS (RR+RX) apresentaram valores médios do IT ainda mais expressivos (853,9 ± 31,3). Os genótipos da ACTN3 demonstraram boa associação aos fenótipos da força/potência apenas entre os atletas identificados nos mais altos níveis de desempenho. 

Evaluation of the Potential Association Between Cannabinoid Receptor 2 Gene Q63R Polymorphism (Rs35761398) and Risk of RDS Development in Preterm Neonates

Background: Respiratory distress syndrome (RDS) is a major acute postnatal pulmonary disease that influences mostly preterm neonates. Recently, the polymorphism of immunomodulatory genes has been suggested to be associated with RDS development. Objectives: We aimed at investigating the association of CNR2 gene Q63R polymorphism with the development of RDS. Methods: In this multicenter case series study, we enrolled 300 preterm newborns. The RDS was diagnosed based on the clinical and radiographic findings. The polymerase chain reaction with sequence-specific primer method was used for genotyping. Results: 140 neonates out of 300 were diagnosed with RDS. The overall frequency of the QQ, QR, and RR genotypes of rs35761398 was 23.7%, 50.7%, and 25.6%, respectively. In the present study, the differences in birth weight, birth height, gestational age (GA), and the severity of respiratory distress were statistically significant between the two groups. We found no statistically significant differences in either allele (P = 0.624) or genotype (P = 0.461) distributions between the RDS patients and the healthy group. Conclusions: Gestational age of < 28 weeks has the highest impact on predisposition to RDS. No association was found between rs35761398 and RDS in a group of Iranian preterm infants.

The impact of R353Q genetic polymorphism in coagulation factor VII on the initial anticoagulant effect exerted by warfarin.

The initial rise in INR following warfarin is attributed to rapid decline in coagulation factor VII (F7). The R353Q polymorphism in F7 accounts for approximately 1/3 of the variability in F7 activity (FVIIc). Evaluate the role of R353Q in the initial response to warfarin. Twenty-eight healthy, males, carrying CYP2C9*1/*1 (n = 14), CYP2C9*1/*2 (n = 4) or CYP2C9*1/*3 (n = 10) genotypes, received single 20mg warfarin. S&R-warfarin concentrations, INR, and FVIIc were monitored periodically for 7days. Baseline and maximal INR were 5.6% and 33.5% higher among carriers of the RQ (n = 12) as compared with those carrying the RR (n = 16) genotype (p = 0.032, p = 0.003, respectively). Baseline and nadir FVIIc were 21.6% and 42.0% lower among subjects carrying the RQ as compared with carriers of the RR genotype (p = 0.001, p = 0.007 respectively). In multiple regression analysis, R353Q predicted 36.6% of the variability in peak INR whereas 20.2%, 9.9%, and 5.9% were attributed to VKORC1 genetic polymorphism, cholesterol concentration, and S Warfarin concentration after 24h, respectively. R353Q genetic polymorphism plays a key role in determining the initial response to warfarin. The incorporation of this genetic variant into warfarin loading algorithm should be further investigated.

The Proviral Load of the Bovine Leukosis Virus is Associated with the Polymorphisms of the BoLA-DRB3 Gene in the HartonDel Valle Breed

Objective: To associate the proviral load (PVL) of the bovine leukosis virus found in the Harton del Valle (HV) breed with the alleles of the BoLA-DRB3 gene. Methods: In 100 HV animals, the PVL was evaluated using a real-time quantitative PCR and a TaqMan probe; the animals were classified according to their PVL in high proviral load (HPVL) or low proviral load (HPVL). Additionally, the animals were genotyped using the PCR-SBT method. The allele frequencies were estimated. Alleles were associated with HPVL (susceptible, S), LPVL (resistant, R) or neutral (N) using the Odds ratio (OR) statistic and the presence of common amino acids in the R and S alleles were determined. Findings: A total of 22 alleles were found, the *1101 was the most frequent. High-frequency alleles accumulate 71.9%. The PVL mean was 129740 copies/μg of DNA. Seven alleles were associated with PVL, alleles *1002, *1601 and *1701 with HPVL (S) and alleles *0902, *1101, *20012 and *2703 with LPVL (R). The PVL of the alleles S and R was 516966 and 75074 copies/μg of DNA respectively. The allelic frequency R and genotype RR accumulated was higher than that of the alleles and genotypes S. The amino acid Glu located in positions 70 of the DRβ peptide chain was common in the R alleles. Application/Improvements: The resistance to the PVL (LPVL) has particularities in each breed since the alleles according to the literature reports are not the same. These results can be used in selection programs in favor of the genes categorized here as R, and thus, decrease the infection rate of the virus. Keywords: Colombian Creole Cattle, Enzootic Bovine Leukosis, Genetic Resistance

Metanetwork Transmission Model for Predicting a Malaria-Control Strategy.

Background: Mosquitoes are the primary vectors responsible for malaria transmission to humans, with numerous experiments having been conducted to aid in the control of malaria transmission. One of the main approaches aims to develop malaria parasite resistance within the mosquito population by introducing a resistance (R) allele. However, when considering this approach, some critical factors, such as the life of the mosquito, female mosquito fertility capacity, and human and mosquito mobility, have not been considered. Thus, an understanding of how mosquitoes and humans affect disease dynamics is needed to better inform malaria control policymaking.Methods: In this study, a method was proposed to create a metanetwork on the basis of the geographic maps of Gambia, and a model was constructed to simulate evolution within a mixed population, with factors such as birth, death, reproduction, biting, infection, incubation, recovery, and transmission between populations considered in the network metrics. First, the same number of refractory mosquitoes (RR genotype) was introduced into each population, and the prevalence of the R allele (the ratio of resistant alleles to all alleles) and malaria were examined. In addition, a series of simulations were performed to evaluate two different deployment strategies for the reduction of the prevalence of malaria. The R allele and malaria prevalence were calculated for both the strategies, with 10,000 refractory mosquitoes deployed into randomly selected populations or selection based on nodes with top-betweenness values. The 10,000 mosquitoes were deployed among 1, 5, 10, 20, or 40 populations.Results: The simulations in this paper showed that a higher RR genotype (resistant-resistant genes) ratio leads to a higher R allele prevalence and lowers malaria prevalence. Considering the cost of deployment, the simulation was performed with 10,000 refractory mosquitoes deployed among 1 or 5 populations, but this approach did not reduce the original malaria prevalence. Thus, instead, the 10,000 refractory mosquitoes were distributed among 10, 20, or 40 populations and were shown to effectively reduce the original malaria prevalence. Thus, deployment among a relatively small fraction of central nodes can offer an effective strategy to reduce malaria.Conclusion: The standard network centrality measure is suitable for planning the deployment of refractory mosquitoes.Importance: Malaria is an infectious disease that is caused by a plasmodial parasite, and some control strategies have focused on genetically modifying the mosquitoes. This work aims to create a model that takes into account mosquito development and malaria transmission among the population and how these factors influence disease dynamics so as to better inform malaria-control policymaking.

More than a 'speed gene': ACTN3 R577X genotype, trainability, muscle damage, and the risk for injuries.

A common null polymorphism (rs1815739; R577X) in the gene that codes for α-actinin-3 (ACTN3) has been related to different aspects of exercise performance. Individuals who are homozygous for the X allele are unable to express the α-actinin-3 protein in the muscle as opposed to those with the RX or RR genotype. α-actinin-3 deficiency in the muscle does not result in any disease. However, the different ACTN3 genotypes can modify the functioning of skeletal muscle during exercise through structural, metabolic or signaling changes, as shown in both humans and in the mouse model. Specifically, the ACTN3 RR genotype might favor the ability to generate powerful and forceful muscle contractions. Leading to an overall advantage of the RR genotype for enhanced performance in some speed and power-oriented sports. In addition, RR genotype might also favor the ability to withstand exercise-induced muscle damage, while the beneficial influence of the XX genotype on aerobic exercise performance needs to be validated in human studies. More information is required to unveil the association of ACTN3 genotype with trainability and injury risk during acute or chronic exercise.

Association of inflammatory genes in obstructive sleep apnea and non alcoholic fatty liver disease in Asian Indians residing in north India.

BackgroundPrevious studies have indicated that variants of the high sensitive C-reactive protein (CRP), Interleukin (IL)-6 and leptin receptor (LEPR) genes are associated with the presence of obstructive sleep apnea (OSA) but not in non-alcoholic fatty liver disease (NAFLD) in Asian Indians. The study was conducted to investigate the association of CRP rs1130864 (1444C/T), IL-6 rs1800795 (-174G/C) and LEPR rs1137101 (Q223R) genes with OSA and NAFLD in Asian Indians residing in North India.Methods240 overweight/ obese subjects [body mass index (BMI>23kg/m2)], 124 with OSA and with NAFLD (group 1), 47 with OSA without NAFLD (group 2), 44 without OSA and with NAFLD (group 3) and 25 without OSA and without NAFLD (group 4) were recruited in this study. The severity of NAFLD was based on abdomen liver ultrasound and of OSA on overnight polysomnography. Clinical details, anthropometry profile, body composition, biochemical parameters and inflammatory markers were measured. Polymerase chain reaction and restriction fragment length polymorphism of CRP, IL-6 and LEPR gene was performed. The associations of these polymorphisms with clinical, anthropometric and biochemical profiles were investigated. The genotypes were confirmed by DNA sequencing analysis.ResultsThe C, T and R alleles of IL-6, CRP and LEPR genes was more frequent in OSA and NAFLD subjects and significantly correlated with higher protein levels. The prevalence of variant genotypes C/T of CRP, G/C of IL-6 and Q/R of LEPR genes was significantly higher in OSA subjects as compared to non OSA subjects. Further, C/C genotype of IL-6 (G/C), T/T of CRP (C/T) and RR genotype of LEPR (Q/R) was associated with significantly higher BMI, fat mass (kg), % body fat, waist circumference, serum triglycerides, total cholesterol, alkaline phosphate, aspartate transaminase and fasting insulin levels in OSA and NAFLD subjects. Using a multivariate analysis, the combined effect of three polymorphisms of CRP, IL-6 and LEPR gene variants on OSA and NAFLD risk was evaluated. Odds ratio for OSA and NAFLD with the combination of the three gene polymorphisms increased to 2.84 (95% CI: 1.08–6.54; p = 0.04) even when adjusted for sex, age and BMI.ConclusionPolymorphisms of pro-inflammatory cytokine genes were associated with increased risk of OSA and NAFLD in Asian Indians.

Relationship between ABCA1 gene polymorphism and lacunar infarction combined with arteriosclerosis in patients.

Adenosine triphosphate-binding cassette transporter A1 (ABCA1) gene polymorphism in lacunar infarction (LI) combined with arteriosclerosis was investigated. A total of 112 LI patients complicated with arteriosclerosis treated in Ningbo First Hospital from March 2015 to September 2016 were enrolled as observation group. At the same time, 342 healthy subjects were selected from physical examination center to serve as the control group. The ABCA1 gene polymorphism was detected via polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), and the susceptibility of ABCA1 gene to LI complicated with atherosclerosis was studied. There were no significant differences in serum total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C) and lipoprotein (a) [Lp(a)] between the two groups (P>0.05). Levels of triglyceride (TG) and apolipoprotein B (ApoB) in observation group were significantly higher than those in control group, but levels of ApoA-I and high-density lipoprotein cholesterol (HDL-C) were significantly lower in observation group than those in control group (P<0.05). There were no significant differences in the RR, RK and KK frequencies and allele frequency of ABCA1 R219K genotype between the two groups (P>0.05). Moreover, levels of HDL-C increased in the RR, RK and KK genotypes, but were not statistically significant (P>0.05). Levels of TG, TC, LDL-C, ApoA-I, ApoB and Lp(a) showed no significant differences among different genotypes of ABCA1 R219K (P>0.05). Results indicated that ABCA1 R219K polymorphism has no correlation with LI complicated with arteriosclerosis.

Evaluation of Association Between Q192R and L55M Genetic Polymorphisms of PON1 and Serum Paraoxonase-1 Activity in Healthy Individuals, a Meta-Analysis

Abstract Background and Aims: Several studies have reported the alteration of the paraoxonase 1 (PON1) enzyme activity in various diseases, including diabetes mellitus. The Q192R and L55M are two genetic variations in the coding region of PON1. To evaluate the relationship between these polymorphisms and the alteration in serum paraoxonase activity, the present meta-analysis was carried out. Material and Methods: Eligible studies published before October 2017 was identified in several databases. The paraoxonase activity in subjects with variant alleles of the study polymorphisms were normalized using the activity of the QQ or LL genotypes. The pooled mean effect of alterations in activity level and its 95% confidence intervals (95% CI) was calculated. Results: Thirty-two studies including 11532 healthy participants were used for the present meta-analysis. The paraoxonase activity was increased in the QR and RR genotypes. This elevation was greater among Caucasians than those among Asians and Africans. The activity in the LM and MM genotypes compared with the LL genotype were decreased, this reduction in Caucasians was greater than Africans. Conclusions: At least in part other PON1 polymorphisms and environmental factors may accounts for heterogeneity between studies.

LDLR rs688 TT Genotype and T Allele Are Associated with Increased Susceptibility to Coronary Artery Disease-A Case-Control Study.

Purpose: The low-density lipoprotein receptor is responsible for the binding and uptake of plasma LDL particles and plays a critical role in maintaining cellular cholesterol homeostasis. LDLR gene SNP rs688 has been reported to be associated with increased plasma total and LDL cholesterol in several populations and can lead to elevated plasma LDL levels, resulting in an increased risk for atherosclerosis and coronary artery disease. This study aimed to explore genetic LDLR variant rs688 for its potential roles in coronary artery disease. Methodology: This study recruited 200 coronary artery disease patients and 200 healthy individuals. Genotyping of LDLR-rs688C > T gene variations was performed using the allele specific PCR method. Correlation of LDLR-rs688C > T gene variants with different clinicopathological features of coronary artery disease patients was performed. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were applied to evaluate the correlation of this microRNA polymorphism with coronary artery disease risk. Results: A significant difference was observed in genotype distribution among the coronary artery disease and matched healthy controls (p = 0.003). The frequencies of all three genotypes CC, CT, TT reported in the patient samples were 14%, 65% and 21% and in the healthy controls samples were 18%, 73% and 9%, respectively. The increased risk of developing CAD in Indian patients was found to be associated with LDLR rs688 TT genotype (OR = 3.0, 95% CI, 1.43 × 6.2; p = 0.003) RR 1.87 (1.20–2.91) p = 0.0037) and also the increased risk of developing CAD was reported to be associated with LDLR rs688 T allele (OR = 0.74, 95% CI, 1.57–0.97; p = 0.03) RR 0.85 (0.73–0.99) p = 0.03) compared to the C allele. Therefore, it was observed that more than a 3.0- and 0.74-fold increase risk of developing CAD was associated with TT genotype and T allele in Indian coronary artery disease patients. Conclusion: The findings indicated that LDLR rs688 TT genotype and T allele are associated with an increased susceptibility to coronary artery disease patients. LDLR-rs688C > T gene variation can be used as a predisposing genetic marker for coronary artery disease. Further studies with larger sample sizes are necessary to confirm our findings.

Prevalence of alpha actinin-3 gene (ACTN3) R577X and angiotensin converting enzyme (ACE) insertion / deletion gene polymorphisms in national and amateur Turkish athletes

Studies to date showed the importance of alpha- actinin-3 (ACTN3) R577X and angiotensin converting enzyme (ACE) ID polymorphisms on determining athletic performance. Therefore, in this study, we aimed to examine polymorphisms given to Turkish athletes and compare them with sedentary individuals. Genomic DNAs were extracted from peripheral blood by using commercially available DNA isolation kit (Macherey-Nagel, NucleoSpin®, Germany). For this study, a total of 84 volunteers (23 national athletes, 27 amateur athletes and 34 sedentary controls) was recruited. ACE ID genotypes were determined by conventional polymerase chain reaction, and ACTN3 R577X polymorphisms by polymerase chain reaction- restriction fragment length polymorphism methodology. In ACTN3 R577X polymorphism, RX was the dominating genotype, and we detected no RR genotype in national athletes. (no RR genotype was detected in national athletes) X allele is more frequent in national athletes and R allele was more frequent in both amateur athletes and control group. II genotype was more frequent in national athletes and in control group, whereas DD genotype was more frequent in amateur athletes for ACE ID polymorphism. When we consider alleles, D allele was found more frequently in amateur athletes and control group whereas I allele was more frequent in national athletes in ACE ID polymorphism. For ACTN3, X allele was superior to R allele. ACTN3 R577X and ACE ID polymorphisms were important biomarkers in determining athletic performance. However, our results in Turkish athletes suggest that ACE D allele and ACTN3 X alleles may be beneficial to athletes potentially, regardless of the distance they perform.

ACTN3 Genotype in Professional Sport Climbers.

Ginszt, M, Michalak-Wojnowska, M, Gawda, P, Wojcierowska-Litwin, M, Korszeń-Pilecka, I, Kusztelak, M, Muda, R, Filip, AA, and Majcher, P. ACTN3 genotype in professional sport climbers. J Strength Cond Res 32(5): 1311–1315, 2018—The functional RR genotype of the alpha-actinin-3 (ACTN3) gene has been reported to be associated with elite sprint/power athlete status. Although large and rapidly increasing number of studies have investigated the associations between the ACTN3 genotypes and athletic performance in various sport disciplines, there is a lack of studies on the genetic predisposition in sport climbing, which was selected to be part of the next Summer Olympic Games in Tokyo 2020 with three subdisciplines (“lead climbing,” “speed climbing,” and “bouldering”). The aim of the study is to determine the frequency distribution of ACTN3 genotypes and alleles in professional lead climbers and boulderers. 100 professional sport climbers from Poland, Russia, and Austria were divided into 2 equal groups: professional boulderers and professional lead climbers were involved in the study. ACTN3 allele frequencies and genotypes were compared with 100 sedentary controls. Genotypes were determined using polymerase chain reaction–restriction fragment length polymorphism method. The percent distribution of RR genotype in the boulderers was significantly higher than in lead climbers and controls (62 vs. 26%; 33%, respectively; χ2 = 17.230, p = 0.0017). The frequencies of ACTN3 R allele in boulderers differed significantly from lead climbers and controls (77 vs. 51%; 58%, respectively; χ2 = 15.721, p = 0.0004). The proportion of the ACTN3 RR genotype is significantly higher in boulderers than in lead climbers and may be related to the specific type of predisposition to this subdiscipline.

Molecular Characterization of Mx1 Gene in Native Indian Breeds of Chicken

ABSTRACTThe genetic polymorphism of Mx1 gene was explored in Indian chicken breeds. PCR-RFLP analysis in 102 bp fragment of partial intron 13 and partial exon 14 of Mx1 gene revealed two genotypes viz. RS and SS with two alleles viz. R and S both in Naked Neck and Tellicherry breeds of chicken. The homozygous genotype RR was not identified. When deduced amino acid sequences were compared, the asparagine amino acid was found to be substituted in “R” allele for serine in “S” allele. PCR-SSCP analysis of 284 bp fragment in 5′-UTR and partial promoter region revealed three genotypes viz. CC, CG, and CH with three different alleles viz. C, G, and H in Naked Neck breed of chicken and five genotypes viz. DI, JK, KK, KL, and KM with six different alleles viz. D, I, J, K, L, and M in Tellicherry breed of chicken. The homozygous genotypes viz. GG and HH in Naked Neck and DD, II, JJ, LL, and MM in Tellicherry chicken was not identified. The nucleotide substitution rate estimated to be in the range of 0.004–0.011. The identified genetic variation can be helpful for better insight to disease resistance property of the Mx1 gene.

TP53 polymorphism in plasma cell myeloma.

Significant and accessible predictive factors for bortezomib treatment in plasma cell myeloma (PCM) are still lacking. TP53 codon 72 polymorphism (P72R) results in proline (P) or arginine (R) at 72 amino acid position, which causes synthesis of proteins with distinct functions. The aims of our study were to: 1) analyze whether this polymorphism is associated with an increased risk of PCM; 2) study whether the P72R polymorphism affects overall survival (OS) among PCM patients; 3) assess the possible association of the P72R polymorphism with sensitivity to bortezomib in cell cultures derived from PCM patients. Genomic DNA from newly diagnosed 59 patients (without IgVH gene rearrangements and TP53 deletions) and 50 healthy blood donors were analyzed by RFLP-PCR to identify TP53 polymorphism. Chromosomal aberrations were detected by use of cIg-FISH. The lymphocyte cell cultures from a subgroup of 40 PCM patients were treated with bortezomib (1, 2 and 4 nM). The P allele of the P72R polymorphism was more common than the R allele in PMC patients compared to controls (39% vs. 24%), and the difference was significant (p = 0.02). The PP and PR genotypes (in combina-tion) were more frequent among cases than in controls (65% vs. 42%, OR = 2.32, p = 0.04). At the cell culture level and 2 nM bortezomib concentration the PP genotype was associated with higher necrosis rates (10.5%) compared to the PR genotype (5.7%, p = 0.006) or the RR genotype (6.3%, p = 0.02); however, no effect of genotypes was observed at bortezomib concentrations of 1 and 4 nM. The shortest OS (12 months) was observed in patients with the PP genotype compared to patients with the PR or RR genotypes (20 months) (p = 0.04). The results suggest that P72R polymorphisms may be associated with an increased PCM risk and may affect OS of PCM patients. However, we saw no consistent results of the polymorphism effect on apoptosis and necrosis in cell cultures derived from PCM patients. Further studies are need in this regard.

Association Study of the ATP - Binding Cassette Transporter A1 (ABCA1) Rs2230806 Genetic Variation with Lipid Profile and Coronary Artery Disease Risk in an Iranian Population.

BACKGROUND:ATP - binding cassette transporter A1 (ABCA1) plays essential roles in the biogenesis of high -density lipoprotein - cholesterol. Variations in the ABCA1 gene may influence the risk of coronary artery disease (CAD).AIM:Present study aimed to investigate the association of rs2230806 (R219K) polymorphism of ABCA1 gene with the development and severity of CAD in an Iranian population.MATERIALS AND METHODS:Our study population consisted of 100 patients with angiographically confirmed CAD and 100 controls. The genotyping of R219K mutation of ABCA1 gene was determined by PCR - RFLP method. Lipid profile was determined using routine colourimetric assays. Statistical analysis was done by SPSS - 16.RESULTS:The genotypic (P = 0.024) and allelic (P = 0.001) distribution of the ABCA1 R219K polymorphism were significantly different between the two groups. In a univariate analysis (with genotype RR as the reference), the RK genotype (OR = 0.46, 95%CI = 0.25-0.86, P = 0.020) and KK genotype (OR = 0.27, 95%CI = 0.11 – 0.66, P = 0.005) was significantly associated with a decreased risk of CAD. A multiple logistic regression analysis revealed that smoking (0.008), diabetes (P = 0.023), triglyceride (P = 0.001), HDL - cholesterol (P = 0.002) and ABCA1 KK genotype (P = 0.009) were significantly and independently associated with the risk of CAD. The association between different genotypes of R219K polymorphism with lipid profile was not significant in both groups (P > 0.05). The R219K polymorphism was significantly associated with severity of CAD (P < 0.05).CONCLUSION:The carriage of K allele of ABCA1 R219K polymorphism has a protective effect on CAD risk and correlates with a decreased severity of CAD. This protective effect seems to be mediated independently of plasma lipid levels.

Anthropometric Profile, Serum Leptin, Antioxidant Vitamins, LEPR Q223R Polymorphism and Cardiovascular Risk Factors in Adolescents

Cardiovascular disease (CVD) risk factors, such as bad eating habits, are typical in adolescence and lead to the consumption of meals that are not always sufficient in vitamins A, E, β-carotene, excess calories and elevated serum leptin levels. The purpose of this research is to study the relationship between vitamin A deficiency (VAD), β-carotene deficiency (βcD), vitamin E deficiency (VED) and to explore the association of leptin receptor Q223R polymorphisms with obesity and other risk factors for CVD. Method: This observational study included 237 adolescents recruited from Adolescents Reference Center, Brazil. It was collected: socioeconomic and clinical data, laboratory and molecular samples. Results: The average age was 14.93 ± 2.18 years, 66.2 % were girls, 38.0 % had high levels of total cholesterol (TC) between 10-14 years Triceps (TSF) and subscapular skinfolds (SSF) measurements were inversely correlated with VAD. There was also an association between VAD, βcD and high triglyceride (TG) levels. Adolescents with the RR genotype presented a trend toward higher levels of body mass index (BMI), waist circumference (WC), systolic blood pressure (SBP), TC, TG, low density lipoprotein (LDLC), leptin and low levels of high-density lipoprotein (HDL-c). Conclusion: The girls had higher levels of leptin than boys. Abdominal fat, βcD and VED were observed in adolescents with VAD. Individuals with RR genotype have drawn attention to cardiovascular risk factors such as high rate of LDLC and reduced rate of HDLc. Thus, it is possible that individuals with this genotype may be more susceptible to the presence of cardiovascular risk factors.

Investigation of antioxidant enzyme polymorphism in chronic obstructive pulmonary disease patients

Background: Antioxidant system enzyme activity and polymorphism were investigated in Chronic Obstructive Pulmonary Disease (COPD), which is increasingly prevalent both in the world and our country. Methods: Malondialdehyde (MDA) was measured to determine lipid peroxidation, while Catalase (CAT), Paraoxonase (PON) and Superoxide Dismutase (SOD) enzyme activities were measured to determine antioxidant activity. For molecular analysis, leukocytes were separated and DNA was isolated from cell nuclei and the targeted genes were amplified by using PCR. Targeted base changes were detected by the restriction fragment length polymorphism technique. Results: Evaluating CAT polymorphism, there was 35 (35%) TT, 52 (52%) TC and 13 (13%) CC genotypes in the control group, as 38 (38%) TT, 40 (40%) TC and 22 (22%) CC genotypes in the patient. In SOD, there were 32 (32%) TT, 49 (49%) TC, 19 (19%) CC genotypes in the control group, as 34 (34%) TT, 50 (50%) TC and 16 (16%) CC genotypes in the patient. In PON55, there were 50 (50%) LL, 38 (38%) LM, 12 (12%) MM genotypes in the control group, as 39 (39%) LL, 49 (49%) LM and 12 (12%) MM genotypes in the patient. In PON192, there were 77 (77%) QQ, 21 (21%) QR, 2 (2%) RR genotypes in the control group, as 66 (66%) QQ, 29 (49%) QR, 5 (5%) RR genotypes in the patient. There was no significant difference in genotype distribution for CAT, SOD, PON55 and PON192 polymorphisms between groups. Conclusion: In conclusion, COPD patients were found to have a deficiency in the antioxidant defense system. This will lead to the development of oxidative stress in patients and the complications of COPD. There was no polymorphic difference between the control group and South African patients living in Adiyaman in COPD whose genetic characteristics were not fully explained.

Prevalence of the RR genotypes of the locus ACTN3-R577X in Italian Muay Thai elite fighters

Prevalence of the RR genotypes of the locus ACTN3-R577X in Italian Muay Thai elite fighters

Paraoxonase 1 Gene Polymorphisms (Q192R and L55M) Are Associated with Coronary Artery Disease Susceptibility in Asian Indians

Background: Coronary artery disease (CAD) is a complex metabolic disorder in which lifestyle and genetic factors are known to play key roles in pathogenesis. The paraoxonase 1 (PON1) enzyme has a defensive effect against CAD progression, as it safeguards low-density lipoproteins (LDLs) from oxidative modifications. The most extensively studied genetic variants in the PON1 gene are Q192R and L55M, which have been related with LDL antioxidative activity and risk of CAD. Objective: The present case-control study intended to examine the Q192R and L55M polymorphisms and their association with the risk of CAD patients in north Indians. Methods: A total of 872 subjects (412 CAD patients and 460 controls) were recruited from north India. The PON1 gene was amplified and genotypes were studies using PCR-RFLP. χ² analysis was performed to compare genotype/allele frequencies in patients and controls. Results: The present study indicated abdominal obesity, elevated body mass index, and dyslipidemia with increased levels of total cholesterol and triglycerides as well as reduced high-density lipoprotein cholesterol in CAD subjects compared to healthy controls (p < 0.05). Logistic regression analysis of the data revealed an association of the RR genotype of the Q192R polymorphism with an about 2-fold elevated risk of CAD (OR = 2.23, 95% CI = 1.47–3.37, p = 0.0001). Contrariwise, the L55M polymorphism did not show significant association with CAD (OR = 1.81, 95% CI = 0.66–4.95, p = 0.326). Conclusions: The Q192R polymorphism in the PON1 gene may be a susceptibility gene associated with increased risk of CAD in an Asian Indian population.