Invest Ophthalmol Vis Sci
November 2023
Purpose: The purpose of this study was to investigate if education contributes to the risk of myopia because educational activities typically occur indoors or because of other factors, such as prolonged near viewing.
Methods: This was a two-sample Mendelian randomization study. Participants were from the UK Biobank, Avon Longitudinal Study of Parents and Children, and Generation R.
Purpose: Changes in refractive error during young adulthood is common yet risk factors at this age are largely unexplored. This study explored risk factors for these changes, including gene-environmental interactions.
Methods: Spherical equivalent refraction (SER) and axial length (AL) for 624 community-based adults were measured at 20 (baseline) and 28 years old.
Background: High myopia (HM), defined as a spherical equivalent refractive error (SER) ≤ -6.00 diopters (D), is a leading cause of sight impairment, through myopic macular degeneration (MMD). We aimed to derive an improved polygenic score (PGS) for predicting children at risk of HM and to test if a PGS is predictive of MMD after accounting for SER.
View Article and Find Full Text PDFMyopia most often develops during school age, with the highest incidence in countries with intensive education systems. Interactions between genetic variants and educational exposure are hypothesized to confer susceptibility to myopia, but few such interactions have been identified. Here, we aimed to identify genetic variants that interact with education level to confer susceptibility to myopia.
View Article and Find Full Text PDFThe locus coeruleus (LC), a nucleus in the pons of the brainstem, plays a significant role in attention and cognitive control. Here, we use an adapted auditory oddball paradigm and measured the pupil dilation response, to provide a marker of LC activity in humans. In Experiment 1, we show event-related pupil responses to rare auditory events which were further elevated by task relevant.
View Article and Find Full Text PDFParents pass on both their genes and environment to offspring, prompting debate about the relative importance of nature versus nurture in the inheritance of complex traits. Advances in molecular genetics now make it possible to quantify an individual's genetic predisposition to a trait via his or her 'polygenic score'. However, part of the risk captured by an individual's polygenic score may actually be attributed to the genotype of their parents.
View Article and Find Full Text PDFThe FRAXE section of the FMR2 gene, located on the X chromosome, contains varying numbers of trinucleotide repeats; boys with over 200 repeats tend to have mild cognitive impairments, though this is rare. Little is known, however, concerning the phenotypes of individuals with smaller numbers of repeats. Here we answer the research question as to whether the health of ancestors of boys from whom the relevant X chromosome was inherited differed in any way according to the number of FRAXE repeats.
View Article and Find Full Text PDFPurpose: Emmetropization requires coordinated scaling of the major ocular components, corneal curvature and axial length. This coordination is achieved in part through a shared set of genetic variants that regulate eye size. Poorly coordinated scaling of corneal curvature and axial length results in refractive error.
View Article and Find Full Text PDFDeficiencies of many nutrients in pregnancy have adverse effects on fetal brain development with consequent impaired cognitive function in childhood. However, it is unclear whether deficiencies of vitamin B12 prenatally are harmful to the developing fetus. We therefore used the Avon Longitudinal Study of Parents and Children to test the hypothesis that cognitive outcomes in childhood are reduced if their mothers consumed a diet low in vitamin B12 during pregnancy.
View Article and Find Full Text PDFThe FRAXA and FRAXE alleles of the FMR1 and FMR2 genes located on the X chromosome contain varying numbers of trinucleotide repeats. Large numbers of repeats at FRAXA (full mutations) manifest as Fragile X syndrome, associated with mental impairment that affects males more severely. In this paper, we present the dataset of frequencies of FRAXA and FRAXE repeat size extracted from DNA samples collected from boys enrolled in the Avon Longitudinal Study of Parents and Children (ALSPAC).
View Article and Find Full Text PDFBackground: The majority of epidemiological studies concerning possible adverse effects of paracetamol (acetaminophen) in pregnancy have been focussed on childhood asthma. Initial results of a robust association have been confirmed in several studies. Recently, a few cohort studies have looked at particular neurocognitive outcomes, and several have implicated hyperactivity.
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