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Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.

ABSTRACT: To identify genetic variants associated with refractive astigmatism in the general population, meta-analyses of genome-wide association studies were performed for: White Europeans aged at least 25 years (20 cohorts, N = 31,968); Asian subjects aged at least 25 years (7 cohorts, N = 9,295); White Europeans aged <25 years (4 cohorts, N = 5,640); and all independent individuals from the above three samples combined with a sample of Chinese subjects aged <25 years (N = 45,931). Participants were classified as cases with refractive astigmatism if the average cylinder power in their two eyes was at least 1.00 diopter and as controls otherwise. Genome-wide association analysis was carried out for each cohort separately using logistic regression. Meta-analysis was conducted using a fixed effects model. In the older European group the most strongly associated marker was downstream of the neurexin-1 (NRXN1) gene (rs1401327, P = 3.92E-8). No other region reached genome-wide significance, and association signals were lower for the younger European group and Asian group. In the meta-analysis of all cohorts, no marker reached genome-wide significance: The most strongly associated regions were, NRXN1 (rs1401327, P = 2.93E-07), TOX (rs7823467, P = 3.47E-07) and LINC00340 (rs12212674, P = 1.49E-06). For 34 markers identified in prior GWAS for spherical equivalent refractive error, the beta coefficients for genotype versus spherical equivalent, and genotype versus refractive astigmatism, were highly correlated (r = -0.59, P = 2.10E-04). This work revealed no consistent or strong genetic signals for refractive astigmatism; however, the TOX gene region previously identified in GWAS for spherical equivalent refractive error was the second most strongly associated region. Analysis of additional markers provided evidence supporting widespread genetic co-susceptibility for spherical and astigmatic refractive errors.

SUBMITTER: Li Q

PROVIDER: S-EPMC4291519 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:ImportanceTreatments are needed to slow progression of or reduce incidence of myopia.ObjectiveTo evaluate the efficacy and safety of daily 650-nm low-level red light (LLRL) for myopia treatment.Design, setting, and participantsSingle-masked, randomized clinical trial at 1 site in China. Baseline measurements were completed from August to September 2021. Participants were children aged 6 to 12 years with spherical equivalent error (SER) of -6 diopters (D) to 3 D. Data were analyzed from March to July 2023.InterventionsIrradiation daily with 650-nm LLRL for 3 minutes twice daily 4 or more hours apart or no intervention.Main outcomes and measuresPrimary outcomes were changes in cycloplegia SER and axial length (AL) at 6- and 12-month follow-up visits. Safety was assessed on masked fundus photograph evaluations.ResultsA total of 336 children were randomly allocated into the LLRL group or control group in a 1:1 ratio. The control group contained 86 female patients (51.2%), and the treatment group contained 90 female patients (53.6%). The mean (SD) age, SER, and AL were 9.0 (1.9) years, -1.3 (1.5) D, and 23.8 (1.0) mm for all patients. A total of 161 (95.8%) in the LLRL group and 159 (94.6%) in the control group returned for the 6-month follow-up. A total of 157 (93.5%) in the LLRL group and 152 (90.5%) in the control group returned for the 12-month follow-up. Mean (SD) changes in SER were 0.15 (0.16) D and -0.26 (0.21) D for the LLRL group and the control group, respectively (difference, -0.41 D; 95% CI, -0.48 to -0.34 D; P < .001), at 6 months and 0.24 (0.27) D and -0.65 (0.33) D for the LLRL group and the control group, respectively (difference, -0.89 D; 95% CI, -0.95 to -0.83 D; P < .001), at 12 months. Mean (SD) changes in AL were -0.06 (0.08) mm and 0.13 (0.12) mm for the LLRL group and control group, respectively (difference, 0.19 mm; 95% CI, 0.16 to 0.22 mm; P < .001), at 6 months and -0.11 (0.10) mm and 0.26 (0.16) mm for the LLRL group and control group, respectively (difference, 0.37 mm; 95% CI, 0.34 to 0.40 mm; P < .001). Masked fundus photograph review did not identify retinal changes in either group.Conclusions and relevanceThese findings suggest daily use of 650-nm LLRL for 1 year can slow progression of SER and AL without safety concerns identified. Confirmation of these findings at independent sites seems warranted, as well as determining whether these effects can be sustained with or without continued treatment and whether LLRL has any effect on pathological myopia.Trial registrationChiCTR2200058963.

Project description:This study aimed to assess refractive astigmatism, in phaco-canaloplasty (PC) vs phaco-non-penetrating deep sclerectomy (PDS) in a randomized, prospective study within 24 months. Patients were randomized pre-operatively, 37 underwent PC and 38 PDS. The following data was collected: BCVA, IOP, number of antiglaucoma medications, refraction with autokeratorefractometry. The assessment of astigmatism was simple arithmetic and vector analysis (calculations included cylinder with axis in form of centroids) and included double angle plots and cumulative refractive astigmatism graphs. Pre-operative mean BCVA in PC was 0.40 ± 0.43 and was comparable to BCVA in PDS 0.30 ± 0.32logMAR (P = 0.314). In the sixth month follow-up, mean BCVA showed no difference (P = 0.708) and was 0.07 ± 0.13 and 0.05 ± 0.11, respectively. However, 2 years after the intervention mean BCVA was better in PC 0.05 ± 0.12 than in PDS 0.12 ± 0.23 and it was statistically significant (P = 0.039). Mean astigmatism in PC at baseline was 1.13 ± 0.73Dcyl, at 6 months it was 1.09 ± 0.61 and at 2 years 1.17 ± 0.51. In PDS at baseline 1.35 ± 0.91 at 6 months 1.24 ± 0.86 and at 2 years 1.24 ± 0.82. There were no differences between the groups in mean astigmatism throughout the study. Centroids (mean of a cylinder with axis) in PC were pre-operatively 0.79D@172˚ ± 1.10Dcyl, at 6 months 0.75D@166˚ ± 1.01 and at 24-months 0.64D@164˚ ± 1.11 and in PDS pre-operatively 0.28D@10˚ ± 1.63D at 6 months 0.26D@11˚ ± 1.5 and at 24-months 0.47D@20˚ ± 1.43. The direction of mean astigmatism was against the rule in all analyzed time points. The mean baseline IOP in PC was 19.4 ± 5.8 mmHg and 19.7 ± 5.4 mmHg in PDS(P = 0.639). From the 6-month IOP was lower in PC, at 24-months it was 13.8 ± 3.3 mmHg in PC and 15.1 ± 2.9 mmHg in PDS(P = 0.048). In both groups preoperatively patients used median(Me) of three antiglaucoma medications(P = 0.197), at 24-months in PC mean 0.5 ± 0.9 Me = 0.0 and 1.1 ± 1.2 Me = 1.0 in PDS(P = 0.058). Both surgeries in mid-term observation are safe and effective. They do not generate vision-threatening astigmatism and do not even change the preoperative direction of mean astigmatism. Refractive astigmatism is stable throughout the observation.

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Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.

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