ABSTRACT
Glaucoma is an optic neuropathy characterized by loss of retinal ganglion cells (RGCs) and consequently visual field loss. It is a complex and heterogeneous disease in which both environmental and genetic factors play a role. With the advent of genome-wide association studies (GWASs), the number of loci associated with primary open-angle glaucoma (POAG) have increased greatly. There has also been major progress in understanding the genes determining the vertical cup-disc ratio (VCDR), disc area (DA), cup area (CA), intraocular pressure (IOP), and central corneal thickness (CCT). In this review, we will update and summarize the genetic loci associated so far with POAG, VCDR, DA, CA, IOP, and CCT. We will describe the pathways revealed and supported by genetic association studies, integrating current knowledge from human and experimental data. Finally, we will discuss approaches for functional genomics and clinical translation.
Subject(s)
Disease Models, Animal , Glaucoma, Open-Angle/genetics , Optic Nerve Diseases/genetics , Animals , Genetic Association Studies , Genome-Wide Association Study , Humans , Intraocular Pressure/genetics , Optic Disk/pathology , Polymorphism, Single Nucleotide , Retinal Ganglion Cells/pathologyABSTRACT
To make an initial approach to the current nutritional situation of the Spanish infant population, we carried out an anthropometric study of the children from 6 to 15 years of age in two schools in Fuenlabrada (Madrid) in a middle to lower class social environment. A total of 1,026 children were studied, to determine weight, height, tricipital fold and arm circumference. These parameters were used to calculate the weight/height ratio (w/h) and the muscular circumference of the arm. All these parameters were tabulated in percentile terms for comparison. The sample was divided into groups according to sex and to age (under 9, 9 to 12 and over 12). We found an overall w/h ratio of 108.8 +/- 17.4, more than the theoretical 100% (p < 0.001); 20.6% of the children over 120%. The Tricipital Fold (TFp) percentile was 62.5 +/- 27, with no differences according to age or sex. The percentile for arm muscular circumference (AMCp) was 48.8 +/- 27 for girls and 41.6 +/- 28 for boys (p < 0.001). Finally, we found a positive and significant correlation (p < 0.05) between w/h and AMCp (r = 0.51) and between w/h and TFp (r = 0.57). We conclude that the population studied is significantly overweight, confirming previous studies. Girls showed better nutritional parameters than the boys, apparently less nutritionally affected by the middle to low social environment. Finally, the w/h ratio, as an isolated parameter, is a good overall index of the nutritional state of children.
