Methods We examined whether a panel of 25 SNPs in 19 genes that might be related to caffeine metabolism or response modified exercise performance, or were associated with any physiologic outcomes during exercise. Subjects were trained male cyclists (n = 33) who underwent a doubleblind placebo-controlled crossover trial to test the effects of caffeine (6 mg/kg) on various performance parameters during a computer-simulated 40 km time trial. The 25 SNPs were genotyped using the Sequenom MassARRAY system, and caffeine-genotype interactions on time trial time, VO2 max, heart rate, respiratory exchange ratio and rate of perceived exertion were assessed using repeated measures analysis of variance.
Guest, NS, Corey, P, Tyrrell, PN, and El-Sohemy, A. Effect of caffeine on endurance performance in athletes may depend on HTR2A and CYP1A2 genotypes. J Strength Cond Res 36(9): 2486-2492, 2022-This investigation determined whether variation in the HTR2A (serotonin receptor) gene modifies the ergogenic effects of caffeine on endurance and further modifies performance by the CYP1A2 genotype. Male athletes ( n = 100; 25 ± 4 years) completed 10-km cycling time trials under 3 conditions as follows: 0, 2, or 4 mg of caffeine per kg body mass. Using a randomized, double-blinded, placebo-controlled design, data were analyzed using analysis of covariance to compare changes in cycling time between placebo (0 mg·kg -1 ) and each caffeine dose and adjusted for the placebo trial and order of treatment. A significance of ρ ≤ 0.05 was used. Subjects were genotyped for HTR2A (rs6313) and CYP1A2 (rs762551). A significant caffeine- HTR2A interaction ( p = 0.003) was observed; however, after adjustment for placebo trials, the interaction was no longer significant ( p = 0.37). Because of the strong caffeine- CYP1A2 interaction ( p < 0.0001) previously reported in these subjects, where the 4-mg dose resulted in divergent effects (slower and faster) on the 10-km cycling time, we conducted a simplified model to examine these same factors by the HTR2A genotype. The post hoc analysis excluded HTR2A CT heterozygotes and 2-mg·kg -1 caffeine trials. Among CYP1A2 fast metabolizers alone, a significant difference (1.7 minutes; p = 0.006) was observed when comparing (4- vs. 0-mg·kg -1 caffeine trials) between the HTR2A CC ( n = 16; 2.4 minutes) and TT ( n = 7; 0.7 minutes) genotypes. Our results show that 4-mg·kg -1 caffeine improves performance in individuals with the HTR2A CC genotype but only in those who are also CYP1A2 AA fast metabolizers. This study was registered with clinicaltrials.gov (NCT02109783).
Following critical evaluation of the available literature to date, The International Society of Sports Nutrition (ISSN) position regarding caffeine intake is as follows:
The role of genetic variation in influencing an individual’s response to diet and nutritional interventions is being increasingly recognized in nutrition research and practice. Discoveries in the field of nutrigenomics and nutrigenetics have paved the way for personalized nutrition by enabling us to tailor dietary recommendations to an individual’s genotype. This level of personalization is expected to hold great benefit by better aligning dietary recommendations with an individual’s requirements and potentially motivating favorable dietary changes that impact chronic disease risk. In this review, we discuss key findings in the field of nutritional genomics, issues surrounding genetic testing for personalized nutrition, and the role health care providers will play in delivering the science to individuals.
High levels of cognitive dietary restraint (CDR) have been associated with subclinical menstrual cycle irregularities and increased cortisol levels, both of which can affect bone mineral density (BMD). Low BMD has been implicated in stress fracture risk. We assessed CDR in female runners (> or = 20 km/wk) with a recent stress fracture (SF) and with no stress fracture history (NSF). A sample of 79 runners (n = 38 SF, 29 +/- 5 y; n = 41 NSF, 29 +/- 6 y) completed a 3-d food record and questionnaire assessing physical activity, menstrual cycle history, and perceived stress. SF and NSF runners had similar body mass index (21.2 +/- 1.8 vs. 22.0 +/- 2.5 kg/m2), physical activity (35.7 +/- 13.5 vs. 33.4 +/- 1.34 km/wk), perceived stress, and dietary intakes. CDR, however, was higher in SF runners (11.0 +/- 5.4 vs. 8.4 +/- 4.3, P < 0.05). Subclinical menstrual cycle disturbances and increased cortisol levels that are associated with high CDR, might in turn contribute to lowered BMD and increased stress fracture risk.
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An athlete's dietary and supplement strategies can provide a valuable contribution to overall sport performance. Personalized nutrition for athletes and fitness enthusiasts aims to optimize nutrition status, body composition, and exercise performance by tailoring dietary recommendations to an individual's genetic profile. Sport dietitians and nutritionists have long been modifying the one-size-fits-all general population dietary guidelines in order to accommodate the needs of athletes. In general, high-performance sport requires the addition of carbohydrates to fuel training and higher protein intakes to repair muscle. However, generic recommendations still remain with regard to micronutrients, food intolerances, bone health, risk of muscle damage, and various other performance-related nutritional factors that deserve consideration. Genetic variation is known to affect absorption, metabolism, uptake, utilization, and excretion of nutrients and food bioactives, which can alter the activity of metabolic pathways. Nutrigenomics and nutrigenetics are experimental approaches that use genomic information and genetic testing technologies to examine the role of individual genetic differences in modifying an athlete's response to nutrients or substances in foods and supplements. With the exception of caffeine, there have been few randomized, controlled trials examining the effects of genetic variation on performance in response to dietary interventions or ergogenic aids. However, there is a growing foundation of research linking gene–diet interactions on biomarkers of health and nutritional status. This means that reaching specific targets for an athlete's nutritional status to optimize health and body composition will in turn beneficially affect exercise and sport performance. These concepts and their actions form the basis from which the field of sport nutrigenomics continues to develop. Here we review the current science that associates genetic modifiers with foods, nutrients and ergogenic aids, and their impact on athletic performance.