[Referral criteria to clinical genetics from primary care: Consensus document]. / Criterios de derivación a genética clínica desde Atención Primaria. Documento de consenso.

INTRODUCTION: Primary care (PC) is the first contact between the patient and the doctor, so it is essential to be clear about the criteria for suspecting a genetic disease and where it should be referred for study. MATERIAL AND METHODS: Four scientific societies: the Spanish Society of Family and Community Medicine (semFYC), the Spanish Association of Human Genetics (AEGH), the Spanish Association of Pediatrics (AEP) and the Spanish Society of Medical Oncology (SEOM), have reviewed the criteria for referral to the clinical genetics services of the different published guidelines with the purpose of define the recommendations for PC. CONCLUSIONS: With this consensus document, the PC doctor and pediatrician will know when, how and where to refer their patients with hereditary and/or genetic pathology to clinical genetics services.

Genotype scores in energy and iron-metabolising genes are higher in elite endurance athletes than in nonathlete controls.

Information about the association of energy and iron-metabolising genes with endurance performance is scarce. The objective of this investigation was to compare the frequencies of polymorphic variations of genes involved in energy generation and iron metabolism in elite endurance athletes versus nonathlete controls. Genotype frequencies in 123 male elite endurance athletes (75 professional road cyclists and 48 elite endurance runners) and 122 male nonathlete participants were compared by assessing 4 genetic polymorphisms: AMPD1 c.34C/T (rs17602729), PPARGC1A c.1444G/A (rs8192678) HFEH63D c.187C/G (rs1799945) and HFEC282Y c.845G/A (rs1800562). A weighted genotype score (w-TGS; from 0 to 100 arbitrary units (a.u.)) was calculated by assigning a corresponding weight to each polymorphism. In the nonathlete population, the mean w-TGS value was lower (39.962 ± 14.654 a.u.) than in the group of elite endurance athletes (53.344 ± 17.053 a.u). The binary logistic regression analysis showed that participants with a w-TGS > 38.975 a.u had an odds ratio of 1.481 (95% confidence interval: 1.244-1.762; p < 0.001) for achieving elite athlete status. The genotypic distribution of polymorphic variations involved in energy generation and iron metabolism was different in elite endurance athletes vs. controls. Thus, an optimal genetic profile in these genes might contribute to physical endurance in athlete status. Novelty Genetic profile in energy generation and iron-metabolising genes in elite endurance athletes is different than that of nonathletes. There is an implication of an "optimal" genetic profile in the selected genes favouring endurance sporting performance.

Cytokine gene polymorphisms in retinal detachment patients with and without proliferative vitreoretinopathy: a preliminary study.

PURPOSE: Cytokines and other growth factors such as interleukins play an important role in the pathogenesis of proliferative vitreoretinopathy (PVR). Interindividual variations in cytokine production seem to correlate with some cytokine gene polymorphisms. The purpose of this study was to analyse the distribution of these cytokine gene variants in patients with rhegmatogenous retinal detachment (RD) with and without PVR. METHODS: Single nucleotide polymorphisms were analysed for five cytokines: tumour necrosis factor-alpha (TNF-alpha), transforming growth factor-beta1 (TGF-beta1), interferon-gamma (IFN-gamma), interleukin-6 (IL-6) and interleukin-10 (IL-10). Patients were divided into two surgically treated groups of RD patients: group RD had 27 patients with RD, and group PVR had 31 patients with RD complicated by PVR. A control group was composed of 46 ethnically matched healthy individuals. RESULTS: The genotype distribution of the TGF-beta1 codon 10 polymorphism differed between PVR and RD patients (p = 0.018) and between PVR patients and controls in codon 25 (p = 0.011). There was a higher frequency of TGF-beta1 codon 10 allele T in PVR patients compared with RD patients (p = 0.023). No statistically significant differences between groups were observed for the other polymorphisms examined. CONCLUSION: An association between the TGF-beta1 genetic profile and the development of PVR was detected in this study. Further studies are necessary to confirm this finding and to establish its clinical relevance.