Dataset Information

Insights into the genetic basis of retinal detachment.

ABSTRACT: Retinal detachment (RD) is a serious and common condition, but genetic studies to date have been hampered by the small size of the assembled cohorts. In the UK Biobank data set, where RD was ascertained by self-report or hospital records, genetic correlations between RD and high myopia or cataract operation were, respectively, 0.46 (SE?=?0.08) and 0.44 (SE?=?0.07). These correlations are consistent with known epidemiological associations. Through meta-analysis of genome-wide association studies using UK Biobank RD cases (N =?3?977) and two cohorts, each comprising ~1?000 clinically ascertained rhegmatogenous RD patients, we uncovered 11 genome-wide significant association signals. These are near or within ZC3H11B, BMP3, COL22A1, DLG5, PLCE1, EFEMP2, TYR, FAT3, TRIM29, COL2A1 and LOXL1. Replication in the 23andMe data set, where RD is self-reported by participants, firmly establishes six RD risk loci: FAT3, COL22A1, TYR, BMP3, ZC3H11B and PLCE1. Based on the genetic associations with eye traits described to date, the first two specifically impact risk of a RD, whereas the last four point to shared aetiologies with macular condition, myopia and glaucoma. Fine-mapping prioritized the lead common missense variant (TYR S192Y) as causal variant at the TYR locus and a small set of credible causal variants at the FAT3 locus. The larger study size presented here, enabled by resources linked to health records or self-report, provides novel insights into RD aetiology and underlying pathological pathways.

SUBMITTER: Boutin TS

PROVIDER: S-EPMC7068119 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Insights into the genetic basis of retinal detachment.

Boutin Thibaud S TS Charteris David G DG Chandra Aman A Campbell Susan S Hayward Caroline C Campbell Archie A Nandakumar Priyanka P Hinds David D Mitry Danny D Vitart Veronique V

Human molecular genetics 20200301 4

Retinal detachment (RD) is a serious and common condition, but genetic studies to date have been hampered by the small size of the assembled cohorts. In the UK Biobank data set, where RD was ascertained by self-report or hospital records, genetic correlations between RD and high myopia or cataract operation were, respectively, 0.46 (SE = 0.08) and 0.44 (SE = 0.07). These correlations are consistent with known epidemiological associations. Through meta-analysis of genome-wide association studies ...[more]

PMID: 31816047

Similar Datasets

Project description:ObjectiveTo evaluate costs and treatment benefits of rhegmatogenous retinal detachment (RD) repair.DesignA Markov model of cost-effectiveness and utility.ParticipantsThere were no participants.MethodsPublished clinical trials (index studies) of pneumatic retinopexy (PR), scleral buckling (SB), pars plana vitrectomy (PPV), and laser prophylaxis were used to quantitate surgical management and visual benefits. Markov analysis, with data from the Center of Medicare and Medicaid Services, was used to calculate the adjusted costs of primary repair by each modality in a hospital-based and ambulatory surgery center (ASC) setting.Main outcome measuresLines of visual acuity (VA) saved, cost of therapy, adjusted cost of therapy, cost per line saved, cost per line-year saved, and cost per quality-adjusted life years (QALY) saved.ResultsIn the facility, hospital surgery setting, weighted cost for PR ranged from $3726 to $5901 depending on estimated success rate of primary repair. Weighted cost was $6770 for SB, $7940 for PPV, and $1955 for laser prophylaxis. The dollars per line saved ranged from $217 to $1346 depending on the procedure. Dollars per line-year saved ranged from $11 to $67. Dollars per QALY saved ranged from $362 to $2243. In the nonfacility, ASC surgery setting, weighted cost for PR ranged from $1961 to $3565 depending on the success rate of primary repair. The weighted costs for SB, PPV, and laser prophylaxis were $4873, $5793, and $1255, respectively. Dollars per line saved ranged from $139 to $982. The dollars per line-year saved ranged from $7 to $49, and the dollars per QALY saved ranged from $232 to $1637.ConclusionsTreatment and prevention of RD are extremely cost-effective when compared with other treatment of other retinal diseases regardless of treatment modality. Retinal detachment treatment costs did not vary widely, suggesting that providers can tailor patient treatments solely on the basis of optimizing anticipated results because there were no overriding differences in financial impact.

Project description:PurposeTo investigate the incidence, seasonal variation, and differences among age, sex, and race for rhegmatogenous retinal detachment (RRD) repair, retinal break (RB) treatment, and posterior vitreous detachment (PVD) in the Intelligent Research in Sight (IRIS) Registry.DesignRetrospective database study.ParticipantsPatients in the IRIS Registry who underwent RRD repair, RB treatment, or cataract surgery (CS) based on Current Procedural Terminology codes and PVD diagnosis based on International Classification of Diseases, Ninth and Tenth Revision, codes.MethodsDaily incidence rates were defined as the ratio of patients who underwent RRD repair or RB treatment and patients with a diagnosis of PVD to the total number of patients followed on a given day within the IRIS Registry. The CS group was included as a comparison for seasonal variation. Rates were stratified by decade of life, sex, and race.Main outcome measuresTime series trends for incidence rates of RRD, RB, and PVD.ResultsA total of 7 115 774 patients received a diagnosis of incident PVD, 237 646 patients underwent RRD repair, and 359 022 patients underwent RB treatment. Also included were 5 940 448 patients who underwent CS. The mean daily incidence for RRD repair, RB treatment, PVD diagnosis, and CS were 0.46 per 100 000 patients, 0.70 per 100 000 patients, 13.90 per 100 000 patients, and 11.80 per 100 000 patients, respectively. Men showed higher incidence of RRD repair and RB treatment than women, whereas women showed higher incidence of PVD diagnosis. Rhegmatogenous retinal detachment incidence was higher in White people compared with other races. Seasonal decreases in PVD, RB treatment, RRD repair, and CS corresponded to national holidays, with larger decreases in winter months. Kaplan-Meier estimates showed that RRD repair and RB treatment typically occurred within 60 days of PVD diagnosis.ConclusionsWithin the IRIS Registry, the highest incidence of RRD was in the 6th and 7th decade of life. There was a higher incidence of RRD repair and RB treatment in men compared with women. The seasonal variation associated with national holidays was less pronounced for RRD repair and RB treatment.

Dataset Information

Insights into the genetic basis of retinal detachment.

Publications

Insights into the genetic basis of retinal detachment.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets