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ABSTRACT: The interleukin-1 (IL-1) family of cytokines is involved in the inflammatory and repair reactions of skeletal muscle during and after exercise. Specifically, plasma levels of the IL-1 receptor antagonist (IL-1ra) increase dramatically after intense exercise, and accumulating evidence points to an effect of genetic polymorphisms on athletic phenotypes. Therefore, the IL-1 family cytokine genes are plausible candidate genes for athleticism. We explored whether IL-1 polymorphisms are associated with athlete status in European subjects.
Genomic DNA was obtained from 205 (53 professional and 152 competitive non-professional) Italian athletes and 458 non-athlete controls. Two diallelic polymorphisms in the IL-1beta gene (IL-1B) at -511 and +3954 positions, and a variable number tandem repeats (VNTR) in intron 2 of the IL-1ra gene (IL-1RN) were assessed.
We found a 2-fold higher frequency of the IL-1RN 1/2 genotype in athletes compared to non-athlete controls (OR = 1.93, 95% CI = 1.37-2.74, 41.0% vs. 26.4%), and a lower frequency of the 1/1 genotype (OR = 0.55, 95% CI = 0.40-0.77, 43.9% vs. 58.5%). Frequency of the IL-1RN 2/2 genotype did not differ between groups. No significant differences between athletes and controls were found for either -511 or +3954 IL-1B polymorphisms. However, the haplotype (-511)C-(+3954)T-(VNTR)2 was 3-fold more frequent in athletes than in non-athletes (OR = 3.02, 95% CI = 1.16-7.87). Interestingly, the IL-1RN 1/2 genotype was more frequent in professional than in non-professional athletes (OR = 1.92, 95% CI = 1.02-3.61, 52.8% vs. 36.8%).
Our study found that variants at the IL-1ra gene associate with athletic status. This confirms the crucial role that cytokine IL-1ra plays in human physical exercise. The VNTR IL-1RN polymorphism may have implications for muscle health, performance, and/or recovery capacities. Further studies are needed to assess these specific issues. As VNTR IL-1RN polymorphism is implicated in several disease conditions, athlete status may constitute a confounding variable that will need to be accounted for when examining associations of this polymorphism with disease risk.
BMC Medical Genetics 02/2010; 11:29. · 2.33 Impact Factor
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ABSTRACT: Abstract
Background
The interleukin-1 (IL-1) family of cytokines is involved in the inflammatory and repair reactions of skeletal muscle during and after exercise. Specifically, plasma levels of the IL-1 receptor antagonist (IL-1ra) increase dramatically after intense exercise, and accumulating evidence points to an effect of genetic polymorphisms on athletic phenotypes. Therefore, the IL-1 family cytokine genes are plausible candidate genes for athleticism. We explored whether IL-1 polymorphisms are associated with athlete status in European subjects.
Methods
Genomic DNA was obtained from 205 (53 professional and 152 competitive non-professional) Italian athletes and 458 non-athlete controls. Two diallelic polymorphisms in the IL-1β gene ( IL-1B ) at -511 and +3954 positions, and a variable number tandem repeats (VNTR) in intron 2 of the IL-1ra gene ( IL-1RN ) were assessed.
Results
We found a 2-fold higher frequency of the IL-1RN 1/2 genotype in athletes compared to non-athlete controls (OR = 1.93, 95% CI = 1.37-2.74, 41.0% vs. 26.4%), and a lower frequency of the 1/1 genotype (OR = 0.55, 95% CI = 0.40-0.77, 43.9% vs. 58.5%). Frequency of the IL-1RN 2/2 genotype did not differ between groups. No significant differences between athletes and controls were found for either -511 or +3954 IL-1B polymorphisms. However, the haplotype (-511)C-(+3954)T-(VNTR)2 was 3-fold more frequent in athletes than in non-athletes (OR = 3.02, 95% CI = 1.16-7.87). Interestingly, the IL-1RN 1/2 genotype was more frequent in professional than in non-professional athletes (OR = 1.92, 95% CI = 1.02-3.61, 52.8% vs. 36.8%).
Conclusions
Our study found that variants at the IL-1ra gene associate with athletic status. This confirms the crucial role that cytokine IL-1ra plays in human physical exercise. The VNTR IL-1RN polymorphism may have implications for muscle health, performance, and/or recovery capacities. Further studies are needed to assess these specific issues. As VNTR IL-1RN polymorphism is implicated in several disease conditions, athlete status may constitute a confounding variable that will need to be accounted for when examining associations of this polymorphism with disease risk.
BMC Medical Genetics. 01/2010;
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ABSTRACT: We assessed the influence of recreational physical activity in young healthy women on homocysteine, a potential risk factor for cardiovascular disease (CVD). Participants were 124 23-year-old normal-weight Italian recreational athletes (performing 8.7 +/- 2.46 h week(-1) exercise) and 116 controls. Median blood homocysteine, folate and lipid markers did not differ between athletes and controls. Elevated homocysteine levels at CVD risk > or =12.0 and > or =15.0 micromol l(-1) were not different between groups. Continuous homocysteine was inversely related to folate (P < 0.001), positively associated with age (P = 0.009) and creatinine (P = 0.033), but not associated with hours of exercise, body mass index, and lipid markers. Women with folate depletion (<3.0 microg l(-1)) were 4.5-fold more likely to have homocysteine > or =15.0 micromol l(-1). Recreational physical exercise does not adversely impact homocysteine levels among young women. Only low folate significantly increases the risk for hyperhomocysteinemia in young women.
Arbeitsphysiologie 10/2008; 105(1):111-8. · 2.15 Impact Factor
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ABSTRACT: We evaluated the effects of regular physical exercise on anemia and iron status in young non-professional female athletes. A total of 191 healthy white Italian women (23.5 +/- 4.68 years) were analyzed; 70 were non-professional athletes performing 11.1 +/- 2.63 h week(-1) exercise and 121 were sedentary controls. Blood markers of anemia and iron status-hemoglobin (Hb), hematocrit (Hct), red blood cells (RBC), serum ferritin, iron, transferrin (Tf), transferrin saturation (TfS), soluble transferrin receptor (sTfR), and the sTfR/log ferritin ratio (sTfR-F index)-were evaluated. Anemia threshold was Hb < 120 g l(-1). Ferritin concentrations < 12 microg l(-1) were considered as iron deficiency (ID). Frequency of anemia (15.7 versus 10.7%, P = 0.32), ID (27.1 versus 29.8%, P = 0.70), and ID anemia (8.6 versus 5.8%, P = 0.46) was not different in athletes and controls. However, athletes were threefold more likely than controls (17.1 versus 5.8%) to have serum iron < 50 microg dl(-1) [odds ratio (OR) 3.37, P = 0.012]. Low-TfS (<15%) was found in 25.7% of athletes and in 13.2% of controls, OR 2.27, P = 0.030. Elevated-sTfR (>1.76 mg l(-1)) was found in 24.3% of athletes and in 12.4% of controls, OR 2.27, P = 0.034. Regular non-professional sport activity does not cause an increased rate of anemia or of iron deficiency in fertile women. However, physical exercise has an impact on iron status as it reduces serum iron and transferrin saturation, and elevates sTfR. Nearly one fifth of recreational athletes have anemia and a third have iron deficit, these conditions can decrease their physical performance.
Arbeitsphysiologie 04/2008; 102(6):703-9. · 2.15 Impact Factor
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ABSTRACT: The purpose of this study was to identify the optimal measures for diagnosing iron deficiency (ID) in oral contraceptive (OC) users and nonusers, and to estimate ID frequency in relation to OC use.
Conventional biomarkers of iron status - serum ferritin, iron, transferrin (Tf) and transferrin saturation (TfS) - were compared with serum soluble Tf receptor (sTfR) and the sTfR/log ferritin ratio (sTfR-F index). Two hundred two healthy menstruating white Italian women (aged 24+/-4.8 years) were analyzed. Serum ferritin concentrations <12 microg/L were considered as ID.
ID was detected in 29.7% (60/202) of the study women. Fifty-nine women were OC users (59/202, 29.2%). OC use did not significantly affect ID prevalence (p=.24). However, OC use markedly increased Tf in OC users, who had an odds ratio (OR) of 9.3 (CI 3.8-22.7, p<.001) for elevated Tf >330 mg/dL. No other iron status measure was affected by OC. Of the markers for ID adjunctive to ferritin, an elevated sTfR-F index >or =1.5 showed the best performance. Specifically in OC users, the elevated sTfR-F index had better sensitivity (81.0% vs. 33.3%), specificity (94.7% vs. 92.1%), efficiency (89.8% vs. 71.2%), positive predictive value (89.5% vs. 70.0%) and negative predictive value (90.0% vs. 71.1%) than a TfS <15%. Additionally, the sTfR-F index allowed the identification of low iron stores in 4.5% (9/202) of women with ferritin > or =12 microg/L.
Among healthy OC users and non-OC users, the sTfR-F index had the highest performance for diagnosing ID compared with other serum markers adjunctive to ferritin measurements, whereas sTfR by itself had a low sensitivity. We showed that neither the sTfR nor sTfR-F index was affected by third-generation OC use. The sTfR measurement is useful in the diagnosis of ID, especially in women using OC, where Tf and TfS tests may be misleading.
Contraception 09/2007; 76(3):200-7. · 2.72 Impact Factor
