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    Full-text · Article · Dec 2013 · Transfusion
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    ABSTRACT: IMPORTANCE To date, relatively few genes responsible for a fraction of heritability have been identified by means of large genetic association studies of refractive error. OBJECTIVE To explore the genetic mechanisms that lead to refractive error in the general population. DESIGN, SETTING, AND PARTICIPANTS Genome-wide association studies were carried out in 2 British population-based independent cohorts (N = 5928 participants) to identify genes moderately associated with refractive error. MAIN OUTCOMES AND MEASURES Enrichment analyses were used to identify sets of genes overrepresented in both cohorts. Enriched groups of genes were compared between both participating cohorts as a further measure against random noise. RESULTS Groups of genes enriched at highly significant statistical levels were remarkably consistent in both cohorts. In particular, these results indicated that plasma membrane (P = 7.64 × 10-30), cell-cell adhesion (P = 2.42 × 10-18), synaptic transmission (P = 2.70 × 10-14), calcium ion binding (P = 3.55 × 10-15), and cation channel activity (P = 2.77 × 10-14) were significantly overrepresented in relation to refractive error. CONCLUSIONS AND RELEVANCE These findings provide evidence that development of refractive error in the general population is related to the intensity of photosignal transduced from the retina, which may have implications for future interventions to minimize this disorder. Pathways connected to the procession of the nerve impulse are major mechanisms involved in the development of refractive error in populations of European origin.
    No preview · Article · Nov 2013 · Jama Ophthalmology
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    ABSTRACT: To determine whether corneal hysteresis and central corneal thickness are independent risk factors for glaucoma. This was a cross-sectional population based cohort study. Associations were tested between corneal hysteresis, measured in 1754 population-based subjects from the TwinsUK cohort, and glaucoma-related endophenotypes, including intraocular pressure (IOP), vertical cup to disc ratio, optic disc area and optic disc cup area. Corneal hysteresis, IOP and Central Corneal Thickness (CCT) were measured using the Ocular Response Analyser (ORA-Reichert(®) Buffalo, NY). Optic disc photographs were analysed using the Stereo DX program. Multivariable linear regression analysis was performed using STATA software. Data was available on 1645 individuals. Multiple regression analysis showed corneal hysteresis to be significantly negatively associated with age (beta coefficient = -0.03, p <0.00005) and IOP (beta coefficient = -0.06, p< 0.00005). Corneal hysteresis was also found to be associated with CCT (beta coefficient =0.02, p<0.0005). There was no significant association between corneal hysteresis and optic disc area (p=0.6), cup area (p=0.77), vertical cup to disc ratio (p=0.51), or spherical equivalent (p=0.08). CCT was also found to be significantly associated with IOP (beta coefficient =3.3, p<0.0005) and corneal hysteresis (beta coefficient = 9.4, p<0.0005), but not with age (p=0.59 or spherical equivalent (p=0.16). In this large cohort of healthy British twins, we found no relationship between corneal hysteresis or CCT and quantitative measures of optic disc cupping, suggesting that corneal hysteresis and CCT are not independent risk factors for glaucoma.
    No preview · Article · Nov 2013 · American Journal of Ophthalmology
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