Systemic lupus erythematosus (SLE) is a prototype autoimmune disease with a strong genetic involvement and ethnic differences. Susceptibility genes identified so far only explain a small portion of the genetic heritability of SLE, suggesting that many more loci are yet to be uncovered for this disease. In this study, we performed a meta-analysis of genome-wide association studies on SLE in Chinese Han populations and followed up the findings by replication in four additional Asian cohorts with a total of 5,365 cases and 10,054 corresponding controls. We identified genetic variants in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with the disease. These findings point to potential roles of cell-cycle regulation, autophagy, and DNA demethylation in SLE pathogenesis. For the region involving TET3 and that involving CDKN1B, multiple independent SNPs were identified, highlighting a phenomenon that might partially explain the missing heritability of complex diseases.
Purpose To measure by ultra-long scan depth optical coherence tomography (UL-OCT) dimensional changes in the anterior segment of human eyes during accommodation. Design Evaluation of diagnostic test or technology. Participants Forty-one right eyes of healthy subjects with a mean age of 34 years (range, 22–41 years) and a mean refraction of −2.5±2.6 diopters (D) were imaged in two repeated measurements at minimal and maximal accommodation. Methods A specially adapted designed UL-OCT instrument was used to image from the front surface of the cornea to the back surface of the crystalline lens. Custom software corrected the optical distortion of the images and yielded the biometric measurements. The coefficient of repeatability (COR) and the intraclass correlation coefficient (ICC) were calculated to evaluate the repeatability and reliability. Main Outcome Measures Anterior segment parameters and associated repeatability and reliability upon accommodation. The dimensional results included central corneal thickness (CCT), anterior chamber depth and width (ACD, ACW), pupil diameter (PD), lens thickness (LT), anterior segment length (ASL=ACD+LT), lens central position (LCP=ACD+1/2LT) and horizontal radii of the lens anterior and posterior surface curvatures (LAC, LPC). Results Repeated measurements of each variable within each accommodative state did not differ significantly (P>0.05). The CORs and ICCs for CCT, ACW, ACD, LT, LCP, and ASL were excellent (1.2% to 3.59% and 0.998 to 0.877, respectively). They were higher for PD (18.90% to 21.63% and 0.880 to 0.874, respectively), and moderate for LAC and LPC (34.86% to 42.72% and 0.669 to 0.251, respectively) in the two accommodative states. Compared to minimal accommodation, PD, ACD, LAC, LPC, and LCP decreased and LT and ASL increased significantly at maximal accommodation (P<0.05), while CCT and ACW did not change (P>0.05). Conclusions UL-OCT measured changes in anterior segment dimensions during accommodation with good repeatability and reliability. During accommodation, the back surface of the lens became steeper as the lens moved forward.
PURPOSE. To investigate thickness profile changes of the corneal epithelium and Bowman's layer at the vertical and horizontal meridians with overnight myopia orthokeratology (OK) lenses.METHODS. Twenty subjects (age range: 19-33 years) wore reverse-geometry rigid gas-permeable OK lenses in both eyes for 30 days. Before lens wear and after 1, 7, and 30 days of overnight lens wear, evaluation of lens fitting, visual acuity examination, corneal topography, and ultra-high resolution optical coherence tomography (UHR-OCT) were performed. The central, midperipheral, and peripheral cornea were imaged in both the horizontal and vertical meridians. Custom software was produced to acquire the thickness profiles of the epithelium and Bowman's layer. RESULTS.Unaided visual acuity and refraction were improved significantly after OK lens wear. The central corneal epithelium thinned in the horizontal and vertical meridians after one night of lens wear (P < 0.05). In the horizontal meridian, the epithelium thickened at the temporal and nasal midperipheries (P < 0.05), while the superior midperipheral epithelium thinned in the vertical meridian. There were no changes in the thickness profile of Bowman's layer during the study period.CONCLUSIONS. Overnight wear of OK lenses caused the central corneal epithelium to thin in both the vertical and horizontal meridians, while the midperipheral nasal and temporal epithelium became thicker and the superior midperipheral epithelium became thinner. The thickness of the central or midperipheral Bowman's layer in either meridian did not change. Improved vision acuity after overnight OK lens wear can be attributed to changes in the corneal epithelium and not Bowman's layer. (Invest Ophthalmol Vis Sci. 2013;54:691-696) DOI:10.1167/iovs.12-10263 O rthokeratology (OK) is used to temporarily reduce the refractive error in myopic patients by the programmed application of specially designed rigid contact lenses.1,2 The improvement of uncorrected visual acuity and reduction in myopia are attained by flattening and thinning of the central cornea. OK lenses for myopia provide reliable refractive correction for up to À4.5 diopters (D) on lens removal. [3][4][5] With the development of higher gas-permeable lens materials, overnight OK lens has come into greater use as a treatment modality to correct refractive error. [6][7][8] Previous studies have reported the time course of refractive and topographic thickness changes of the cornea and its sublayers in myopia OK lens wearers. [9][10][11] In an early study, Swarbrick et al., using a modified optical pachymeter, found central epithelial thinning and midperipheral corneal thickening after reverse-geometry lens wear.9 Albarbi et al. obtained similar results using an overnight OK lens-wearing modality. 10Wang et al. used optical coherence tomography (OCT) to measure the topographic thickness of the cornea and epithelium after one night of OK lens wear. 11 However, all of these studies were focused on thickness changes of the total cornea and the epitheliu...
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