Evidence map›Paper›PMID 30704416›Full record

ArticleBMC medical genetics2019

Exome genotyping and linkage analysis identifies two novel linked regions and replicates two others for myopia in Ashkenazi Jewish families.

Claire L Simpson, Anthony M Musolf, Qing Li, Laura Portas, Federico Murgia, Roberto Y Cordero, Jennifer B Cordero, Bilal A Moiz, Emily R Holzinger, Candace D Middlebrooks and 3 more

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In one paragraph

Article in BMC medical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
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

5 citing papers in PubMed.

  1. Review
  2. Article
  3. Myopia in African Americans Is Significantly Linked to Chromosome 7p15.2-14.2.Investigative ophthalmology & visual science · 2021
    Article
  4. IMI 2021 Yearly Digest.Investigative ophthalmology & visual science · 2021
    Review
  5. 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

13 authors.

Claire L SimpsonDepartment of Genetics, Genomics and Informatics and Department of Ophthalmology, University of Tennessee Health Science Center, 71 S. Manassas Room 417, Memphis, TN, 38163, USA.
Anthony M MusolfComputational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, 333 Cassell Dr., Suite 1200, Baltimore, MD, 21224, USA.
Qing LiComputational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, 333 Cassell Dr., Suite 1200, Baltimore, MD, 21224, USA.
Laura PortasComputational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, 333 Cassell Dr., Suite 1200, Baltimore, MD, 21224, USA.
Federico MurgiaComputational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, 333 Cassell Dr., Suite 1200, Baltimore, MD, 21224, USA.
Roberto Y CorderoDepartment of Genetics, Genomics and Informatics and Department of Ophthalmology, University of Tennessee Health Science Center, 71 S. Manassas Room 417, Memphis, TN, 38163, USA.
Jennifer B CorderoDepartment of Genetics, Genomics and Informatics and Department of Ophthalmology, University of Tennessee Health Science Center, 71 S. Manassas Room 417, Memphis, TN, 38163, USA.
Bilal A MoizComputational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, 333 Cassell Dr., Suite 1200, Baltimore, MD, 21224, USA.
Emily R HolzingerComputational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, 333 Cassell Dr., Suite 1200, Baltimore, MD, 21224, USA.
Candace D MiddlebrooksComputational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, 333 Cassell Dr., Suite 1200, Baltimore, MD, 21224, USA.
Deyana D LewisComputational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, 333 Cassell Dr., Suite 1200, Baltimore, MD, 21224, USA.
Joan E Bailey-WilsonComputational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, 333 Cassell Dr., Suite 1200, Baltimore, MD, 21224, USA. jebw@mail.nih.gov.ORCID 0000-0002-9153-2920
Dwight StambolianDepartment of Ophthalmology, University of Pennsylvania, Rm. 313, Stellar Chance Labs, 422 Curie Blvd, Philadelphia, PA, 19104, USA.

Funding

Genetic Epidemiology of Complex TraitsZIAHG200327 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BAILEY-WILSON, JOAN ELLEN · 2009 to 2022
$10.5M
Genetic Epidemiology of Refractive ErrorR01EY020483 · NEI · UNIVERSITY OF PENNSYLVANIA · PI STAMBOLIAN, DWIGHT EDWARD · 2010 to 2014
$2.9M
NEI NIH HHS R01 EY020483
6 · The paper itself

Abstract

backgroundMyopia is one of most common eye diseases in the world and affects 1 in 4 Americans. It is a complex disease caused by both environmental and genetics effects; the genetics effects are still not well understood. In this study, we performed genetic linkage analyses on Ashkenazi Jewish families with a strong familial history of myopia to elucidate any potential causal genes.

methodsSixty-four extended Ashkenazi Jewish families were previously collected from New Jersey. Genotypes from the Illumina ExomePlus array were merged with prior microsatellite linkage data from these families. Additional custom markers were added for candidate regions reported in literature for myopia or refractive error. Myopia was defined as mean spherical equivalent (MSE) of -1D or worse and parametric two-point linkage analyses (using TwoPointLods) and multi-point linkage analyses (using SimWalk2) were performed as well as collapsed haplotype pattern (CHP) analysis in SEQLinkage and association analyses performed with FBAT and rv-TDT.

resultsStrongest evidence of linkage was on 1p36(two-point LOD = 4.47) a region previously linked to refractive error (MYP14) but not myopia. Another genome-wide significant locus was found on 8q24.22 with a maximum two-point LOD score of 3.75. CHP analysis also detected the signal on 1p36, localized to the LINC00339 gene with a maximum HLOD of 3.47, as well as genome-wide significant signals on 7q36.1 and 11p15, which overlaps with the MYP7 locus.

conclusionsWe identified 2 novel linkage peaks for myopia on chromosomes 7 and 8 in these Ashkenazi Jewish families and replicated 2 more loci on chromosomes 1 and 11, one previously reported in refractive error but not myopia in these families and the other locus previously reported in the literature. Strong candidate genes have been identified within these linkage peaks in our families. Targeted sequencing in these regions will be necessary to definitively identify causal variants under these linkage peaks.

Indexed as

Chromosomes, HumanChromosomes, Human, Pair 1Chromosomes, Human, Pair 11Chromosomes, Human, Pair 7Chromosomes, Human, Pair 8ExomeFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotyping TechniquesHumansJewsLod ScoreMaleMyopiaPedigreeLINC00339 long noncoding RNA, humanRNA, Long NoncodingFamily studiesGenetic linkageMyopia

Identifiers

PMID30704416
PMCPMC6357511

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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.