Gabriel Rodríguez-Romo

Is there an association between ACTN3 R577X polymorphism and muscle power phenotypes in young, non‐athletic adults?

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.

ACTN3 R577X Polymorphism does not Influence Explosive Leg Muscle Power in Elite Volleyball Players

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.

ACE and ACTN3 Genes and Muscle Phenotypes in Nonagenarians

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.

ApoE gene and exceptional longevity: Insights from three independent cohorts

The ApoE gene is associated with the risk of Alzheimer or cardiovascular disease but its influence on exceptional longevity (EL) is uncertain. Our primary purpose was to determine, using a case-control design, if the ApoE gene is associated with EL. We compared ApoE allele/genotype frequencies among the following cohorts: cases (centenarians, most with 1+ major disease condition; n=163, 100-111years) and healthy controls (n=1039, 20-85years) from Spain; disease-free cases (centenarians; n=79, 100-104years) and healthy controls (n=597, age 27-81years) from Italy; and cases (centenarians and semi-supercentenarians, most with 1+ major disease condition; n=729, 100-116years) and healthy controls (n=498, 23-59years) from Japan. Our main findings were twofold. First, the ε4-allele was negatively associated with EL in the three cohorts, with the following odds ratio (OR) values (adjusted by sex) having been found: 0.55 (95% confidence interval (CI): 0.33, 0.94), P=0.030 (Spain); 0.41 (95%CI: 0.18, 0.99), P=0.05 (Italy); and 0.35 (95%CI: 0.26, 0.57), P<0.001 (Japan). Second, although no association was found in the Spanish cohort (OR=1.42 (95%CI: 0.89, 2.26), P=0.145), the ε2-allele was positively associated with EL in the Italian (OR=2.14 (95%CI: 1.18, 3.45), P=0.01) and Japanese subjects (OR=1.81 (95%CI: 1.25, 2.63), P=0.002). Notwithstanding the limitations of case-control designs, our data suggest that the ApoE might be a candidate to influence EL. The ε4-allele appears to decrease the likelihood of reaching EL among individuals of different ethnic/geographic origins. An additional, novel finding of our study was that the ε2-allele might favor EL, at least in the Italian and Japanese cohorts.

The K153R Polymorphism in the Myostatin Gene and Muscle Power Phenotypes in Young, Non-Athletic Men

The Lys(K)153Arg(R) polymorphism in exon 2 (rs1805086, 2379 A>G replacement) of the myostatin (MSTN) gene is a candidate to influence skeletal muscle phenotypes. We examined the association between the MSTN K153R polymorphism and ‘explosive’ leg power, assessed during sprint (30 m) and stationary jumping tests [squat (SJ) and counter-movement jumps (CMJ)] in non-athletic young adults (University students) [n = 281 (214 men); age: 21–32 years]. We also genotyped the MSTN exonic variants E164K (rs35781413), I225T, and P198A, yet no subject carried any of these variant MSTN alleles. As for the K153R polymorphism, we found only one woman with the KR genotype; thus, we presented the results only for men. The results of a one-way ANCOVA (with age, weight and height entered as covariates) showed that men with the KR genotype (n = 15) had a worse performance in vertical jumps compared with those with the KK genotype [SJ: vertical displacement of center of gravity (CG) of 35.17±1.42 vs. 39.06±0.39 cm, respectively, P = 0.009; CMJ: vertical displacement of CG of 36.44±1.50 vs. 40.63±0.41 cm, respectively, P = 0.008]. The results persisted after adjusting for multiple comparisons according to Bonferroni. Performance in 30 m sprint tests did however not differ by K153R genotypes. In summary, the MSTN K153R polymorphism is associated with the ability to produce ‘peak’ power during muscle contractions, as assessed with vertical jump tests, in young non-athletic men. Although more research is still needed, this genetic variation is among the numerous candidates to explain, alone or in combination with other polymorphisms, individual variations in muscle phenotypes.

The-174 G/C polymorphism of the IL6 gene is associated with elite power performance

The -174 G/C polymorphism [rs1800795] of the IL6 gene is a candidate to explain individual variations in health and exercise related phenotypes. We compared -174 G/C genotypic and allelic frequencies in three groups of men of the same Caucasian (Spanish) descent: elite endurance athletes (cyclists, runners; n=100); elite power athletes (jumpers, throwers, sprinters; n=53) and non-athletic controls (n=100). The frequency of the GG genotype (P=0.030) and G allele (P=0.026) was higher in the power athletes group compared with the control group. The frequency of the GG genotype (P=0.033) and G allele (P=0.013) was also higher in the power athletes group compared with the endurance athletes group. The odds ratio of being a power athlete if the subject had the GG genotype (dominant model) was 2.471 (95% confidence interval: 1.242-4.915) compared to the control group or the endurance athlete group. We did not find differences between the control and endurance athlete groups. In summary, our findings suggest that the G allele of the IL6 -174 G/C polymorphism might favour sprint/power sports performance.

Are 'endurance' alleles 'survival' alleles? Insights from the ACTN3 R577X polymorphism.

Exercise phenotypes have played a key role for ensuring survival over human evolution. We speculated that some genetic variants that influence exercise phenotypes could be associated with exceptional survival (i.e. reaching ≥100years of age). Owing to its effects on muscle structure/function, a potential candidate is the Arg(R)577Ter(X) polymorphism (rs1815739) in ACTN3, the structural gene encoding the skeletal muscle protein α-actinin-3. We compared the ACTN3 R577X genotype/allele frequencies between the following groups of ethnically-matched (Spanish) individuals: centenarians (cases, n = 64; 57 female; age range: 100–108 years), young healthy controls (n = 283, 67 females, 216 males; 21±2 years), and humans who are at the two end-points of exercise capacity phenotypes, i.e. muscle endurance (50 male professional road cyclists) and muscle power (63 male jumpers/sprinters). Although there were no differences in genotype/allele frequencies between centenarians (RR:28.8%; RX:47.5%; XX:23.7%), and controls (RR:31.8%; RX:49.8%; XX:18.4%) or endurance athletes (RR:28.0%; RX:46%; XX:26.0%), we observed a significantly higher frequency of the X allele (P = 0.019) and XX genotype (P = 0.011) in centenarians compared with power athletes (RR:47.6%; RX:36.5%;XX:15.9%). Notably, the frequency of the null XX (α-actinin-3 deficient) genotype in centenarians was the highest ever reported in non-athletic Caucasian populations. In conclusion, despite there were no significant differences with the younger, control population, overall the ACTN3 genotype of centenarians resembles that of world-class elite endurance athletes and differs from that of elite power athletes. Our preliminary data would suggest a certain ‘survival’ advantage brought about by α-actinin-3 deficiency and the ‘endurance’/oxidative muscle phenotype that is commonly associated with this condition.

Does exercise training during pregnancy influence fetal cardiovascular responses to an exercise stimulus? Insights from a randomised, controlled trial

In this study, the effects of maternal physical activity level on several fetal haemodynamic parameters such as pulsatility index of the fetal middle cerebral and umbilical arteries and cerebral-to-fetal ratio, as well as on fetal heart rate responses to one bout of moderate exercise (20 min cycle-ergometry at ∼60% of age-predicted maximum heart rate) during the third pregnancy trimester were assessed. 26 Sedentary and 26 physically active gravidae aged 29 (3) and 30 (2) years, respectively, were studied. Maternal exercise did not have a deleterious effect on fetal haemodynamics (particularly, cerebral-to-fetal ratio remained within normal limits with exercise). Overall, maternal training status did not influence the fetal cardiovascular variables studied.

ACTN3 R577X Polymorphism and Explosive Leg-Muscle Power in Elite Basketball Players

PURPOSE To determine the association of the ACTN3 R577X polymorphism with leg-muscle explosive power in Spanish (white) elite basketball players and controls. PARTICIPANTS 100 (60 men) elite basketball players (cases) and 283 nonathletic controls. METHODS The authors assessed power performance by means of the vertical-squat and countermovement-jump tests. RESULTS Genotype distributions did not differ between groups (cases: 37.0% [RR], 42.0% [RX], and 21.0% [XX]; controls: 31.8% [RR], 49.8% [RX], and 18.4% [XX]; P = .353). The authors did not observe any effect of the ACTN3 R577X polymorphism on study phenotypes in either group, including when they performed the analyses separately in men and women. They found no association between the ACTN3 R577X polymorphism and the likelihood of being an elite basketball player using the dominant or the recessive model, and the results remained unaltered when the analyses were adjusted for sex, weight, height, and age or when performed for men and women separately. CONCLUSIONS Although the ACTN3 R577X is associated with explosive muscle performance and this phenotype is important in the sport of basketball (ie, during jumps), the authors found no association with leg explosive power in elite basket players or with the status of being this type of athlete.

Motivos y barreras para hacer ejercicio y practicar deportes en Madrid

OBJECTIVES To analyze the motivators and barriers to physical activity and sports among the population of metropolitan Madrid, as well as any correlations with gender, age, and social status. METHODS A cross-sectional study of a sample of 625 individuals whose data were representative of the whole population, with a +/- 4% margin of error and a 95.5% confidence interval (95%CI). The sampling type selected was multistage, utilizing an ad hoc questionnaire. RESULTS The most frequently cited motivations for exercising were: for fun (29.9%), to stay in shape (26.4%), and health (16.1%), differing according to gender (chi2(8) = 19.635; P = 0.009; 95%CI: 0.007-0.011) and age (chi2(32) = 55.671; P = 0.006; 95%CI: 0.005-0.0080). With regard to activity cessation, the demands of work and family (24.1%) and lack of time (22.2%) were the most common reasons, correlating with age (chi2(24) = 36.955; P = 0.041; 95%CI: 0.037-0.044) and slightly with gender (chi2(6) = 11.753; P = 0.069; 95%CI: 0.063-0.074). The reasons most often cited for never exercising were lack of time (24.4%) and not enjoying it (24.4%), uncorrelated with any of the study variables. CONCLUSIONS Among the study sample, the purpose of sports and exercise was for fun and recreation, aimed at maintaining and improving health and acquiring an attractive figure. Motivators driving activity and discontinuation were correlated with age and gender. Conversely, the reasons for never exercising were independent of the study variables.