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The role of polymorphism rs9939609 of the FTO gene has been related with fat mass and cardiovascular risk in adults, but it remains unclear in children and adolescents. Hence, the main aim of this study was to determine the FTO polymorphism effects on body composition, cardiorespiratory fitness (CRF), physical activity (PA), inflammatory markers, and cardiovascular risk both in cross-sectional analysis and after two-years of follow-up in children and adolescents. A total of 2129 participants were included in this study. The rs9939609 polymorphism was genotyped. Body composition measurements, CRF, and moderate-to-vigorous PA (MVPA) were determined at baseline and after two-year of follow-up. Moreover, plasma leptin and adiponectin were also determined as inflammatory markers. Furthermore, an index of cardiovascular disease risk factors (CVDRF-I) was calculated. Codominant (TT vs. TA vs. AA) and dominant (AA+AT vs. TT) models were applied for statistical analysis. The results showed a main effect of the FTO genotype on body composition measures in both first and third year (p < 0.05), with lower adiposity in TT compared with AA or AA+AT group. These differences were maintained after accounting for pubertal maturity, sex, age, VO 2 max, and MVPA. Moreover, lower leptin level was observed in TT compared to AA+AT group in the third year. An interaction in Gene*Time*Sex was found in height and neck circumference in dominant model (p = 0.047; p = 0.020, respectively). No differences were found in CRF, MVPA nor CVDRF-I between groups. Hence, homozygous TT allele could be a protective factor against weight gain from early childhood., (© 2023 The Authors. Scandinavian Journal of Medicine & Science In Sports published by John Wiley & Sons Ltd.)

Background: Many epidemiological and experimental studies have established that myopia is caused by a complex interaction between common genetic and environmental factors. The objective of this study was to describe and compare the allelic and genotypic frequencies of the rs524952 ( GJD2 ), rs8000973 ( ZIC2 ), rs1881492 ( CHRNG ), rs1656404 ( PRSS56 ), rs235770 ( BMP2 ), and rs7744813 ( KCNQ5 ) SNPs (single-nucleotide polymorphism) between responder and nonresponder patients who had undergone a two-year treatment with lenses for myopia control., Method: Twenty-eight participants from the MiSight Assessment Study Spain (MASS), who had received treatment for myopia control for two years with MiSight contact lenses, were examined. The criteria for better/worse treatment response was the change in the axial length (< / ≥ 0.22 mm two years after the treatment). The clinical procedure consisted of the extraction of a saliva sample, and the participants also underwent an optometric examination. Genetic data were analyzed using SNPStats software (Catalan Institute of Oncology, Barcelona, Spain), and statistical analysis was performed using SPSS v.25 (SPSS Inc., Chicago, IL, USA). Demographic variables were analyzed using the Student's t-test., Results: The T allele, the one with the lowest frequency, of the "rs235770" SNP was associated with a better treatment response [AL/CR (axial length/corneal radius): OR = 3.37; CI = 1.079-10.886; SE (spherical equivalent): OR = 1.26; CI: = 0.519-57.169; p = 0.019). By performing haplotype analysis, significant differences were found between the rs235770…rs1881492 and rs235770-rs1656404 polymorphisms. The latter presented a strong linkage disequilibrium with each other (r 2 ≥ 0.54)., Conclusion: The result of lens therapies for myopia control could vary depending on genetic variants. Studies with a larger sample are needed to confirm the results presented in this pilot study.

Objectives: To calculate cardiovascular risk according to the American Framingham Coronary Risk Score (FCRS) and the European Systematic Coronary Risk Evaluation (SCORE) methods. To correlate the results with the presence of meta-bolic syndrome (glycemia, triglyceridemia, cholesterolemia, abdominal circumference and blood pressure) and with serum levels of three emerging biomarkers [ultrasensitive reactive C protein (PCRus), homocysteine (Hcy) and lipoproteín (a) (lp (a)]., Methods: Data were gathered during routine medical surveillance of mostly white collar workers in FREMAP Alcobendas from 2004 to 2006 (n=248).We followed standardized health surveillance protocols as established by the Spanish Health Ministry, along with inclusion of an additional blood sample and measurement of the abdominal circumference., Results: None of the 248 workers included in our sample was classified as having high or very high risk according to FCRS in contrast to 44.8 % according to SCORE.We observed a strong correlation (r=0.78, p<0.001) between both predictive methods.We also found associations between both methods and metabolic syndrome (p=0.043), and between the FCRS and PCRus (p=0.021) and Hcy (p=0.036)., Conclusions: Our results suggest that the inclusion of risk predictions based on FCRS and/or SCORE could be recommended for the primary prevention of cardiovascular disease, because of their excellent cost-benefit relationship. However, we do not recommend routine measurement of the biological markers included in this study., (Copyright belongs to the Societat Catalana de Seguretat i Medicina del Treball.)

The myostatin (MSTN) gene is a candidate to influence extreme longevity owing to its role in modulating muscle mass and sarcopenia and especially in inhibiting the main nutrient-sensing pathway involved in longevity, i.e. mammalian target of rapamycin. We compared allele/genotype distributions of the exonic MSTN variants K153R (rs1805086), E164K (rs35781413), I225T and P198A, in Spanish centenarians (cases, n = 156; 132 women, age range 100-111 years) and younger adults (controls, n = 384; 167 women, age <50 years). No subject of either group carried a mutant allele of the E164K, I225T or P198A variation. The frequency of the variant R allele was significantly higher in centenarians (7.1%) than in controls (2.7%) (P = 0.001). The odds ratio of being a centenarian if the subject had the R allele was 3.48 (95% confidence interval 1.67-7.28, P = 0.001), compared to the control group, after adjusting for sex. The results were replicated in an Italian cohort (centenarians, n = 79 (40 women), age range 100-104 years; younger controls, n = 316 (155 women), age <50 years), where a higher frequency of the R allele in centenarians (7.6%) compared to controls (3.0%) (P = 0.004) was independently confirmed. Although more research is needed, the variant allele of the MSTN K153R polymorphism could be among the genetic contributors associated with exceptional longevity.

Mitochondrial haplogroups could influence individual susceptibility to mitochondrial DNA (mtDNA) damage, and human longevity, as indicated by previous studies with Caucasian (European) or Asian cohorts. Here, we compared the frequency of mtDNA haplogroups in a group of Spanish (Caucasian) centenarians (n = 65, aged 100-108 years, 58 women, most from the central part of Spain) and a group of healthy young adults (n = 138, 62 women, aged 20-40 years) of the same ethnic origin. We did not find significant differences between centenarians and the control group (P > 0.2). Only two centenarians (both women) had the haplogroup J, which hampered comparison with the control group (n = 15, five women). Our data confirm that the potential effects of mitochondrial haplogroups on human longevity might be population/geographic specific, with important differences between studies (notably, with regard to the previously reported potential benefit brought about by the haplogroup J) arising from the different living environment and ethnic background of the study cohorts.

Objective: Analyze the frequencies of genetic mutation in alcohol dehydrogenase (ADH), aldehyde dehydrogenase (ALDH) and cytochrome P450 2E1 (CYP2E1) and establish their possible association with the development of acute alcoholic hepatitis (AAH)., Methodology: Case-control study in a total of 85 Spanish patients. We distinguish three groups (one case group and two control groups) based on hepatic histological lesion and alcohol consumption: controls (group 1: teetotalers; group 2: drinkers without AAH; cases: group 3: drinkers with AAH). Case diagnosis was established based on the presence of polymorphonuclear leukocyte infiltrate in histological study. We analyzed the presence of the genetic mutations R47H and R369C (ADH2), E487K (ALDH2) and mutation Rsa I of CYP2E1 (allele c2) by polymerase chain reaction (PCR) and capillary electrophoresis., Results: The allele c2 of CYP2E1 was found in 10%, 16% and 50% of the groups 1, 2 and 3 patients, respectively. Presence of the mutation Rsa I showed influence on the development of AAH (odds ratio [OR]: 3.63; confidence interval (95% [CI]: 0.88-15.02)., Conclusions: The data suggest a possible association between the presence of the Rsa I of CYP2E1 and the development of AAH in patients with chronic alcohol consumption.