ABSTRACT
Despite progress made in the treatment of tobacco dependence, currently available treatments are effective for only a fraction of smokers. The aim of this study was to evaluate the association between the effectiveness of treatment with nicotine or bupropion in heavy smokers (n=70), and 6 candidate polymorphisms in CYP2A6, 5-HTT and HTR2A genes. Analysis revealed a significant association between "favourable" genotype combination carriers (CYP2A6 "slow metabolizer" or 5HTT L-allele or HTR2A-1438GG) and nicotine treatment outcome (OR=2.69, 95% CI=1.28-5.64). Genetic variations in CYP2A6 gene or genotypes associated with reduced synaptic serotonin activity may influence the success of smoking cessation treatment.
Subject(s)
Aryl Hydrocarbon Hydroxylases/genetics , Polymorphism, Genetic/genetics , Receptor, Serotonin, 5-HT2A/genetics , Serotonin Plasma Membrane Transport Proteins/genetics , Smoking Cessation , Tobacco Use Disorder/genetics , Tobacco Use Disorder/therapy , Adult , Bupropion/therapeutic use , Cytochrome P-450 CYP2A6 , Dopamine Uptake Inhibitors/therapeutic use , Female , Genetic Association Studies , Genotype , Humans , Male , Middle Aged , Nicotine/therapeutic use , Nicotinic Agonists/therapeutic use , PharmacogeneticsABSTRACT
We examined the association of R577X polymorphism (rs1815739) in the α-actinin-3 (ACTN3) gene with "explosive" leg muscle power performance in a group of male and female elite volleyball players (n=66, 31 men, 35 women) and in a group of non-athletic male and female young adults (n=334, 243 men, 91 women). We assessed power performance by means of the vertical squat and counter-movement jump tests. We also determined whether the genotypic frequencies of the ACTN3 R577X genotypes differed between groups. We did not observe any effect of the ACTN3 R577X polymorphism on study phenotypes in both groups, regardless of gender (all P>0.05). Genotype frequencies were similar between volleyball and control groups (P=0.095). Moreover, we did not find an association between the ACTN3 R577X polymorphism and the likelihood of being an elite volleyball player using the dominant (RR vs RX+XX) and the recessive model (RR+RX vs XX). In summary, these findings suggest that the ACTN3 R577X polymorphism does not influence explosive leg muscle power in elite volleyball players.
Subject(s)
Actinin/genetics , Athletes , Athletic Performance/physiology , Leg/physiology , Muscle Contraction/genetics , Muscle Strength/genetics , Polymorphism, Genetic , Volleyball/physiology , Female , Humans , Male , Muscle Contraction/physiology , Muscle Fibers, Fast-Twitch/metabolism , Muscle Strength/physiology , Sequence Analysis, DNA , Spain , Young AdultABSTRACT
We studied the association of ACE and ACTN3 polymorphisms with skeletal muscle phenotypes (i. e. upper and lower body muscular strength and functional tests) in Spanish nonagenarian subjects [n=41, 33 women, 8 men, age: 90-97 years]. Mean values of the study phenotypes were not significantly different (all P>0.05) between ACE and ACTN3 genotypes. The analyses of the combined effects between genotypes ( ACE DD & ACTN3 RR/RX vs. ACE II/ID & ACTN3 XX) did not yield any significant difference. Our data suggest that, in the elderly, the influence of genetic factors on muscle phenotype traits is not reducible to a few single polymorphisms, including ACE and ACTN3 variants.
Subject(s)
Actinin/genetics , Muscle Strength/genetics , Muscle, Skeletal/physiology , Peptidyl-Dipeptidase A/genetics , Age Factors , Aged, 80 and over , Aging/physiology , Analysis of Variance , Exercise Test , Female , Genotype , Hand Strength/physiology , Humans , Male , Motor Activity/physiology , Muscle Contraction/genetics , Muscle Contraction/physiology , Phenotype , Polymorphism, Genetic , Sarcopenia/genetics , Sarcopenia/physiopathology , Spain , Walking/physiologyABSTRACT
We investigated the association between ACTN3 R577X polymorphism and jumping (vertical squat and counter-movement jump tests) and sprint ability (30 m dash) in non-athletic, healthy young adults [N=284 (217 male), mean (SD) age: 21 (2) years]. We analyzed the differences in the study phenotypes among ACTN3 R577X genotypes by one-way analysis of covariance before and after adjusting for sex, age, weight and height (confounders). We also compared the genotype and allele frequencies between those with the best and worst results in the aforementioned tests (≥90th vs <90th of the sex-specific percentile, respectively). We used logistic regression to calculate the odds ratio (OR) for having the best performance. We did not observe a significant association between ACTN3 R577X genotypes and the study phenotypes before and after adjusting for potential confounders, nor after analyzing males and females separately. We did not observe significant differences in genotype frequencies between those with the best or the worst performance. The OR for an individual with the RR genotype to be in the top 10 percentile was <1.00 for jump tests and <1.015 for sprint tests (all P>0.05). In summary, α-actinin-3 deficiency does not negatively influence the ability to generate explosive leg muscle power in a young non-athletic population.
Subject(s)
Actinin/genetics , Motor Activity/genetics , Motor Activity/physiology , Muscle Strength/genetics , Muscle Strength/physiology , Muscle, Skeletal/physiology , Adult , Analysis of Variance , Chi-Square Distribution , Female , Gene Frequency , Genotype , Humans , Logistic Models , Male , Polymorphism, Genetic , Young AdultABSTRACT
We determined the genotype and allelic frequency of several genetic polymorphisms (ACE I/D, GDF-8K153R [and also E164K, P198A and I225T] and AMPD1 C34T) that are candidates to influence sports performance in a group of 54 male professional soccer players. Their results were compared with those of elite endurance male athletes (52 runners) and 123 sedentary, healthy men (controls). We found statistical significance for the ACE ID (chi (2)((2))=8.176, P=0.017) and II genotypes (chi(2)((2))=16.137, P<0.001) with a higher and lower frequency of ID ( P=0.005) and II (P<0.001), respectively, in soccer players than in endurance runners. Statistical significance was also reached for AMPD1 (with a higher frequency of the CT genotype in soccer players than in runners [chi(2)((2))=7.538, P=0.006]) but not for GDF-8 K153R. Since the ACE II genotype is associated with improved potential for endurance performance but with decreased training gains in muscle mass and strength, these findings together with previous results support the notion that elite soccer players tend to have a power/strength oriented genotype.
Subject(s)
AMP Deaminase/genetics , Myostatin/genetics , Peptidyl-Dipeptidase A/genetics , Soccer/physiology , Adolescent , Adult , Alleles , Athletic Performance/physiology , Gene Frequency , Genotype , Humans , Male , Muscle Strength/physiology , Physical Endurance/physiology , Polymorphism, Genetic , Running/physiology , Young AdultABSTRACT
The cross-country world championship is one of the best models to study characteristics needed to achieve top-level endurance athletic capacity. We report the genotype combination of a recent cross-country champion (12 km race) in polymorphisms of seven genes that are candidates to influence endurance phenotype traits (ACTN3, ACE, PPARGC1A, AMPD1, CKMM, GDF8 (myostatin) and HFE). His data were compared with those of eight other runners (world-class but not world champions). The only athlete with the genotype theoretically more suited to attaining world-class endurance running performance was the case study subject. A favourable genetic endowment, together with exceptional environmental factors (years of altitude living and training in this case), seems to be necessary to attain the highest possible level of running endurance performance.
