RESUMEN
BACKGROUND: Common cancers develop through a multistep process often including inherited susceptibility. Collaboration among multiple institutions, and funding from multiple sources, has allowed the development of an inexpensive genotyping microarray, the OncoArray. The array includes a genome-wide backbone, comprising 230,000 SNPs tagging most common genetic variants, together with dense mapping of known susceptibility regions, rare variants from sequencing experiments, pharmacogenetic markers, and cancer-related traits. METHODS: The OncoArray can be genotyped using a novel technology developed by Illumina to facilitate efficient genotyping. The consortium developed standard approaches for selecting SNPs for study, for quality control of markers, and for ancestry analysis. The array was genotyped at selected sites and with prespecified replicate samples to permit evaluation of genotyping accuracy among centers and by ethnic background. RESULTS: The OncoArray consortium genotyped 447,705 samples. A total of 494,763 SNPs passed quality control steps with a sample success rate of 97% of the samples. Participating sites performed ancestry analysis using a common set of markers and a scoring algorithm based on principal components analysis. CONCLUSIONS: Results from these analyses will enable researchers to identify new susceptibility loci, perform fine-mapping of new or known loci associated with either single or multiple cancers, assess the degree of overlap in cancer causation and pleiotropic effects of loci that have been identified for disease-specific risk, and jointly model genetic, environmental, and lifestyle-related exposures. IMPACT: Ongoing analyses will shed light on etiology and risk assessment for many types of cancer. Cancer Epidemiol Biomarkers Prev; 26(1); 126-35. ©2016 AACR.
Asunto(s)
Predisposición Genética a la Enfermedad/epidemiología , Variación Genética/genética , Estudio de Asociación del Genoma Completo/métodos , Neoplasias/genética , Polimorfismo de Nucleótido Simple/genética , Femenino , Genotipo , Humanos , Masculino , Neoplasias/epidemiología , Neoplasias/fisiopatología , Prevalencia , Pronóstico , Medición de Riesgo , Selección GenéticaRESUMEN
Developmental coordination disorder (DCD) is a condition that results in an impairment of gross and/or fine motor coordination. Compromised motor coordination contributes to lower levels of physical activity, which is associated with elevated body fat. The impact of elevated body fat on motor coordination diagnostic assessments in children with DCD has not been established. The purpose of this study was to determine if relative body fat influences performance on the Movement Assessment Battery for Children, 2nd Edition (MABC-2) test items in children with and without DCD. A nested case-control, design was conducted within the Physical Health Activity Study Team longitudinal cohort study. The MABC-2 was used to assess motor coordination to categorize cases and matched controls. Relative body fat was assessed using whole body air displacement plethysmography. Relative body fat was negatively associated with the MABC-2 "balance" subcategory after adjusting for physical activity and DCD status. Relative body fat did not influence the subcategories of "manual dexterity" or "aiming and catching". Item analysis of the three balance tasks indicated that relative body fat significantly influences both "2-board balance" and "zig-zag hopping", but not "walking heel-toe backwards". Children with higher levels of relative body fat do not perform as well on the MABC-2, regardless of whether the have DCD or not. Dynamic balance test items are most negatively influenced by body fat. Health practitioners and researchers should be aware that body fat can influence results when interpreting MABC-2 test scores.