Evidence map›Paper›PMID 29182452›Full record

ArticleOphthalmic epidemiology2018

Exome Array Analysis of Nuclear Lens Opacity.

Stephanie J Loomis, Alison P Klein, Kristine E Lee, Fei Chen, Samantha Bomotti, Barbara Truitt, Sudha K Iyengar, Ronald Klein, Barbara E K Klein, Priya Duggal

Abstract read
In one paragraph

Article in Ophthalmic epidemiology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 1 pooled it
0.1field-weighted citation impact, top 48% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 1 synthesis or guideline pooled it, 4 citations in OpenAlex.

  1. Pooled it
  2. Oxidative Stress in Genetic Cataract Formation.Antioxidants (Basel, Switzerland) · 2024
    Review
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 2 institutions in 1 country.

Stephanie J Loomisa Department of Epidemiology , Johns Hopkins Bloomberg School of Public Health , Baltimore , MD , USA.
Alison P Kleina Department of Epidemiology , Johns Hopkins Bloomberg School of Public Health , Baltimore , MD , USA.
Kristine E Leed Department of Ophthalmology and Visual Sciences , University of Wisconsin School of Medicine and Public Health , Madison , WN , USA.
Fei Chena Department of Epidemiology , Johns Hopkins Bloomberg School of Public Health , Baltimore , MD , USA.
Samantha Bomottia Department of Epidemiology , Johns Hopkins Bloomberg School of Public Health , Baltimore , MD , USA.
Barbara Truitte Department of Epidemiology and Biostatistics , Case Western Reserve University , Cleveland , OH , USA.
Sudha K Iyengare Department of Epidemiology and Biostatistics , Case Western Reserve University , Cleveland , OH , USA.
Ronald Kleind Department of Ophthalmology and Visual Sciences , University of Wisconsin School of Medicine and Public Health , Madison , WN , USA.
Barbara E K Kleind Department of Ophthalmology and Visual Sciences , University of Wisconsin School of Medicine and Public Health , Madison , WN , USA.
Priya Duggala Department of Epidemiology , Johns Hopkins Bloomberg School of Public Health , Baltimore , MD , USA.
Johns Hopkins University · USCase Western Reserve University · US

Funding

CARDIOVASCULAR EPIDEMIOLOGY INSTITUTIONAL TRAININGT32HL007024 · NHLBI · JOHNS HOPKINS UNIVERSITY · PI Elizabeth Selvin · 1985 to 2026
$17.5M
THE EPIDEMIOLOGY OF AGE-RELATED OCULAR DISEASEU10EY006594 · NEI · UNIVERSITY OF WISCONSIN-MADISON · PI KLEIN, RONALD · 1987 to 2018
$17.3M
Identification of quantitative ocular trait genes in the Beaver Dam EyeR01EY021531 · NEI · JOHNS HOPKINS UNIVERSITY · PI DUGGAL, PRIYA, KLEIN, ALISON P · 2011 to 2013
$1.2M
Eye and Vision Genomics Training ProgramT32EY022303 · NEI · JOHNS HOPKINS UNIVERSITY · PI BEATY, TERRI H · 2013 to 2017
$799k
NEI NIH HHS R01 EY021531NEI NIH HHS T32 EY022303NEI NIH HHS U10 EY006594NHLBI NIH HHS T32 HL007024
6 · The paper itself

Abstract

purposeNuclear cataract is the most common subtype of age-related cataract, the leading cause of blindness worldwide. It results from advanced nuclear sclerosis, or opacity in the center of the optic lens, and is affected by both genetic and environmental risk factors, including smoking. We sought to understand the genetic factors associated with nuclear sclerosis through interrogation of rare and low frequency coding variants using exome array data.

methodsWe analyzed Illumina Human Exome Array data for 1,488 participants of European ancestry in the Beaver Dam Eye Study who were without cataract surgery for association with nuclear sclerosis grade, controlling for age and sex. We performed single-variant regression analysis for 32,138 variants with minor allele frequency (MAF) ≥0.003. In addition, gene-based analysis of 11,844 genes containing at least two variants with MAF < 0.05 was performed using a gene-based unified burden and non-burden sequence kernel association test (SKAT-O). Additionally, both single-variant and gene-based analyses were analyzed stratified by smoking status.

resultsNo single-variant test was statistically significant after Bonferroni correction (p < 1.6 × 10

conclusionsThis study did not find a significant genetic association with nuclear sclerosis, the possible association with the RNF149 gene highlights a potential candidate gene for future studies that aim to understand the genetic architecture of nuclear sclerosis.

Indexed as

Polymorphism, Single NucleotideAdultAgedAged, 80 and overCataractDNAExomeFemaleFollow-Up StudiesGene FrequencyGenotypeHumansMaleMiddle AgedRetrospective StudiesDNAexome arraygeneticsnuclear cataractnuclear lens opacityNuclear sclerosis

Identifiers

PMID29182452
PMCPMC5851868
OpenAlexW2770336867

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.