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[Introduction]: From genome wide association study (GWAS) a large number of single nucleotide polymorphisms (SNPs) have previously been associated with blood pressure (BP) levels. A combination of SNPs, forming a genetic risk score (GRS) could be considered as a useful genetic tool to identify individuals at risk of developing hypertension from early stages in life. Therefore, the aim of our study was to build a GRS being able to predict the genetic predisposition to hypertension (HTN) in European adolescents., [Methods]: Data were extracted from the Healthy Lifestyle in Europe by Nutrition in Adolescence (HELENA) cross-sectional study. A total of 869 adolescents (53% female), aged 12.5-17.5, with complete genetic and BP information were included. The sample was divided into altered (≥130 mmHg for systolic and/or ≥80 mmHg for diastolic) or normal BP. Based on the literature, a total of 1.534 SNPs from 57 candidate genes related with BP were selected from the HELENA GWAS database., [Results]: From 1,534 SNPs available, An initial screening of SNPs univariately associated with HTN (p < 0.10) was established, to finally obtain a number of 16 SNPs significantly associated with HTN (p < 0.05) in the multivariate model. The unweighted GRS (uGRS) and weighted GRS (wGRS) were estimated. To validate the GRSs, the area under the curve (AUC) was explored using ten-fold internal cross-validation for uGRS (0.802) and wGRS (0.777). Further covariates of interest were added to the analyses, obtaining a higher predictive ability (AUC values of uGRS: 0.879; wGRS: 0.881 for BMI z-score). Furthermore, the differences between AUCs obtained with and without the addition of covariates were statistically significant (p < 0.05)., [Conclusions]: Both GRSs, the uGRS and wGRS, could be useful to evaluate the predisposition to hypertension in European adolescents.

[Background]: Hepatic disorders are often complex and multifactorial, modulated by genetic and environmental determinants. During the last years, the hepatic disease has been progressively established from early stages in life. The use of genetic risk scores (GRS) to predict the genetic susceptibility to a particular phenotype among youth has gained interest in recent years. Moreover, the alanine aminotransferase (ALT) blood biomarker is often considered as hepatic screening tool, in combination with imaging techniques. The aim of the present study was to develop an ALT-specific GRS to help in the evaluation of hepatic damage risk in European adolescents., [Methods]: A total of 972 adolescents (51.3% females), aged 12.5-17.5 years, from the Healthy Lifestyle in Europe by Nutrition in Adolescence study were included in the analyses. The sample incorporated adolescents in all body mass index (BMI) categories and was divided considering healthy/unhealthy ALT levels, using sex-specific cut-off points. From 1212 a priori ALT-related single nucleotide polymorphisms (SNPs) extracted from candidate gene selection, a first screening of 234 SNPs univariately associated was established, selecting seven significant SNPs (p < .05) in the multivariate model. An unweighted GRS (uGRS) was developed by summing the number of reference alleles, and a weighted GRS (wGRS), by multiplying each allele to its estimated coefficient., [Results]: The uGRS and wGRS were significantly associated with ALT (p < .001). The area under curve was obtained integrating BMI as clinical factor, improving the predictive ability for uGRS (.7039) and wGRS (.7035), using 10-fold internal cross-validation., [Conclusions]: Considering BMI status, both GRSs could contribute as complementary tools to help in the early diagnosis of hepatic damage risk in European adolescents.

Objectives It is widely acknowledged that the experience of pain is promoted by both genetic susceptibility and environmental factors such as engaging in physical activity (PA), and that pain-related cognitions are also important. Thus, the purpose of the present study was to test the association of 64 polymorphisms (34 candidate genes) and the gene-gene, gene-PA and gene-sedentary behaviour interactions with pain and pain-related cognitions in women with FM. Methods Saliva samples from 274 women with FM [mean (S.D.) age 51.7 (7.7) years] were collected for extracting DNA. We measured PA and sedentary behaviour by accelerometers for a week, pain with algometry and questionnaires, and pain-related cognitions with questionnaires. To assess the robustness of the results, a meta-analysis was also performed. Results The rs6311 and rs6313 polymorphisms (5-hydroxytryptamine receptor 2A, HTR2A) were individually related to algometer scores. The interaction of rs4818 (catechol-O-methyltransferase, COMT) and rs1799971 (opioid receptor mu gene, OPRM1) was related to pain catastrophizing. Five gene-behaviour interactions were significant: the interactions of sedentary behaviour with rs1383914 (adrenoceptor alpha 1A, ADRA1A), rs6860 (charged multivesicular body protein 1A, CHMP1A), rs4680 (COMT), rs165599 (COMT) and rs12994338 (SCN9A) on bodily pain subscale of the Short Form 36. Furthermore, the meta-analysis showed an association between rs4680 (COMT) and severity of FM symptoms (codominant model, P-value 0.032). Conclusion The HTR2A gene (individually), COMT and OPRM1 gene-gene interaction, and the interactions of sedentary behaviour with ADRA1A, CHMP1A, COMT and SCN9A genes were associated with pain-related outcomes. Collectively, findings from the present study indicate a modest contribution of genetics and gene-sedentary behaviour interaction to pain and pain catastrophizing in women with FM. Future research should examine whether reducing sedentary behaviour is particular

Fatigue is a cardinal symptom in fibromyalgia. Fatigue is assumed to be the result of genetic susceptibility and environmental factors. We aimed at examining the role of genetic susceptibility for fatigue in southern Spanish women with fibromyalgia, by looking at single nucleotide polymorphisms in 34 fibromyalgia candidate-genes, at the interactions between genes, and at the gene-physical activity interactions. We extracted DNA from saliva of 276 fibromyalgia women to analyze gene-polymorphisms. Accelerometers registered physical activity and sedentary behavior. Fatigue was assessed with the Multidimensional Fatigue Inventory. Based on the Bonferroni’s and False Discovery Rate values, we found that the genotype of the rs4453709 polymorphism (sodium channel protein type 9 subunit alpha, SCN9A, gene) was related to reduced motivation (AT carriers showed the highest reduced motivation) and reduced activity (AA carriers showed the lowest reduced activity). Carriers of the heterozygous genotype of the rs1801133 (methylene tetrahydrofolate reductase, MTHFR, gene) or rs4597545 (SCN9A gene) polymorphisms who were physically active reported lower scores on fatigue compared to their inactive counterparts. Highly sedentary carriers of the homozygous genotype of the rs7607967 polymorphism (AA/GG genotype; SCN9A gene) presented more reduced activity (a dimension of fatigue) than those with lower levels of sedentary behavior. Collectively,.

[Objectives]: To examine the association of lipoprotein lipase (LPL) polymorphisms with cardiovascular disease (CVD) risk factors in European adolescents, along with the influence of physical activity on these associations., [Methods]: A total of 13 LPL polymorphisms were genotyped in 1.057 European adolescents (12‐18 years old) from the Healthy Lifestyle in Europe by Nutrition in Adolescence Cross‐Sectional Study. Serum lipids, glucose, insulin, and leptin (LEP) levels were measured and a CVD risk score was computed. We also measured body weight and height, waist and hip circumferences, and triceps and subscapular skinfold thickness. Physical activity was objectively measured by accelerometry for 7 days., [Results]: The rs1534649, rs258, rs320, and rs328 polymorphisms were associated with several CVD risk factors (ie, body mass index, triglycerides [TG], LEP, and cholesterol/high‐density lipoprotein [HDL], low‐density lipoprotein [LDL]/HDL, TG/HDL ratios). TG and TG/HDL were associated with haplotype blocks 3 (rs282, rs285 polymorphisms) and 4 (rs3126, rs320, rs328, rs10099160 polymorphisms), being the latter also associated with the CVD risk score. Physical activity modulated the association of adiposity with rs1534649 and rs258 polymorphisms., [Conclusions]: Polymorphisms rs1534649, rs258, rs320 and rs328, and two haplotypes of LPL were significantly associated with CVD risk factors in European adolescents. Higher levels of moderate to vigorous physical activity may attenuate the effects of rs1534649 and rs258 polymorphisms on adiposity.

[Background]: Cardiovascular diseases (CVDs) are responsible for 31% of all deaths worldwide. Genetic predisposition to CVDs in adolescents remains largely unknown. The aim of this study was to examine the association of UCP1, UCP2 and UCP3 gene polymorphisms with CVD risk factors in European adolescents., [Method]: A cross-sectional study that involves 1.057 European adolescents (12–18 years old) from the HELENA study. A total of 18 polymorphisms of UCP1, UCP2 and UCP3 genes were genotyped. We measured serum total cholesterol, high-density lipoprotein,low-density lipoprotein, ApoA1, ApoB, leptin, triglycerides, glucose, insulin and blood pressure, and calculated HOMA (homeostatic model assessment), Quantitative Insulin Sensitivity Check Index (QUICKI) and a CVD risk score., [Results]: The G allele of UCP2 rs2735572 and T allele of UCP2 rs17132534 were associated with higher diastolic blood pressure (P = 0.001; false discovery rate [FDR] = 0.009 and P = 8e–04; FDR = 0.009, respectively). We observed that the AATAG haplotype of UCP1 was associated with higher serum ApoB/ApoA1 (P = 0.008; FDR = 0.031) and ApoB levels (P = 0.008; FDR = 0.031). Moreover, the ACC haplotype of UCP3 was associated with a higher CVD risk score (P = 0.0036; FDR = 0.01)., [Conclusions]: Two UCP2 polymorphisms and haplotypes of UCP1 and UCP3 were associated with CVD risk factors. These findings suggest that UCPs may have a role in the development of CVD already in adolescents.

Seed dispersal is a major life history stage for plants. Because of its influence on reproductive success, dispersal is expected to be under strong selection. Different ecological circumstances might favour dispersal towards few suitable sites or alternatively, the random distribution of propagules among suitable and unsuitable sites. However, the evolutionary dynamics favouring specific dispersal syndromes remain a matter of speculation in many cases. Here, we explore the linkage between dispersal and environmental conditions at an evolutionary scale. We use a comparative phylogenetic approach to investigate the evolution of dispersal morphology in the genus Pinus and its connection with climatic variability, aridity and fire. Our results show that dispersal appears to have evolved towards two alternative strategies: seeds with vs. without wings, closely matching the distribution of wind- and vertebrate- mediated dispersal within the genus. Moreover, we find a close evolutionary association between dispersal morphology and environmental conditions such that each morphology predominates under particular abiotic conditions. Seeds with bigger wings are selected for primarily in environments with high temperature variability and/or prone to fire, whereas wingless or remnant-winged seeds are evolutionarily linked primarily to environments that are arid or exhibit a high variability in rainfall. These findings suggest a role of seed dispersal in the adaptation to certain environmental conditions, along with the influence of such conditions on the evolution of plant functional traits.

[Aims]: To examine the association between UCP1, UCP2, and UCP3 gene polymorphisms with adiposity markers in European adolescents and to test if there were gene interactions with objectively measured physical activity and adiposity., [Methods]: A cross‐sectional study that involves 1.057 European adolescents (12‐18 years old) from the Healthy Lifestyle in Europe by Nutrition in Adolescence Cross‐Sectional Study. A total of 18 polymorphisms in UCP1, UCP2, and UCP3 genes were genotyped. We measured weight, height, waist, and hip circumferences and triceps and subscapular skinfold thickness. Physical activity was objectively measured by accelerometry during 7 days., [Results]: The C allele of the UCP1 rs6536991 polymorphism was associated with a lower risk of overweight (odds ratio [OR]: T/C + C/C vs T/T) = 0.72; 95% confidence interval [CI]: 0.53‐0.98; P = 0.034; false discovery rate [FDR] = 0.048). There was a significant interaction between UCP1 rs2071415 polymorphism and physical activity with waist‐to‐hip ratio (P = 0.006; FDR = 0.026). Adolescents who did not meet the physical activity recommendations (less than 60 min/day of moderate to vigorous physical activity) and carrying the C/C genotype had higher waist‐to‐hip ratio (+ 0.067; 95% CI, 0.028‐0.106; P = 0.003), while no differences across genotypes were observed in adolescents meeting the recommendations., [Conclusions]: Two UCP1 polymorphisms were associated with adiposity in European adolescents. Meeting the daily physical activity recommendations may overcome the effect of the UCP1 rs2071415 polymorphism on obesity‐related traits.