Evidence map›Paper›PMID 26445519›Full record

ArticleClinical ophthalmology (Auckland, N.Z.)2015

Novel single-nucleotide polymorphisms in the calsequestrin-1 gene are associated with Graves' ophthalmopathy and Hashimoto's thyroiditis.

Hooshang Lahooti, Daniele Cultrone, Senarath Edirimanne, John P Walsh, Leigh Delbridge, Patrick Cregan, Bernard Champion, Jack R Wall

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical ophthalmology (Auckland, N.Z.), 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
1.3field-weighted citation impact, top 21% 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

9 citing papers in PubMed, 11 citations in OpenAlex.

  1. Review
  2. Article
  3. Exploring the Role ofFrontiers in bioengineering and biotechnology · 2020
    Article
  4. MicroRNAs and Autoimmune-Mediated Eye Diseases.Frontiers in cell and developmental biology · 2020
    Review
  5. Thyroid-associated Ophthalmopathy.Turkish journal of ophthalmology · 2017
    Review
  6. Article
  7. Article
  8. Article
  9. 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

8 authors at 2 institutions in 1 country.

Hooshang LahootiThyroid Research Laboratory, Sydney Medical School - Nepean Clinical School, The University of Sydney, Kingswood, NSW, Australia ; Nepean Blue Mountains Local Health District, Nepean Hospital, Kingswood, NSW, Australia.
Daniele CultroneThyroid Research Laboratory, Sydney Medical School - Nepean Clinical School, The University of Sydney, Kingswood, NSW, Australia ; Nepean Blue Mountains Local Health District, Nepean Hospital, Kingswood, NSW, Australia.
Senarath EdirimanneThyroid Research Laboratory, Sydney Medical School - Nepean Clinical School, The University of Sydney, Kingswood, NSW, Australia ; Nepean Blue Mountains Local Health District, Nepean Hospital, Kingswood, NSW, Australia.
John P WalshDepartment of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, Australia ; School of Medicine and Pharmacology, The University of Western Australia, Crawley, WA, Australia.
Leigh DelbridgeDepartment of Surgery, Royal North Shore Hospital, The University of Sydney, St Leonards, NSW, Australia ; Sydney Medical School - Northern Clinical School, The University of Sydney, St Leonards, NSW, Australia.
Patrick CreganThyroid Research Laboratory, Sydney Medical School - Nepean Clinical School, The University of Sydney, Kingswood, NSW, Australia ; Nepean Blue Mountains Local Health District, Nepean Hospital, Kingswood, NSW, Australia.
Bernard ChampionThyroid Research Laboratory, Sydney Medical School - Nepean Clinical School, The University of Sydney, Kingswood, NSW, Australia ; Nepean Blue Mountains Local Health District, Nepean Hospital, Kingswood, NSW, Australia.
Jack R WallThyroid Research Laboratory, Sydney Medical School - Nepean Clinical School, The University of Sydney, Kingswood, NSW, Australia ; Nepean Blue Mountains Local Health District, Nepean Hospital, Kingswood, NSW, Australia.
University of Sydney · AUUniversity of Western Australia · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe eye disorder associated with Graves' disease, called Graves' ophthalmopathy (GO), greatly reduces the quality of life in affected patients. Expression of the calsequestrin (CASQ1) protein in thyroid tissue may be the trigger for the development of eye muscle damage in patients with GO. We determined the prevalence of rs74123279, rs3747673, and rs2275703 single-nucleotide polymorphism (SNPs) in patients with autoimmune thyroid disorders, GO, Graves' hyperthyroidism (GH), or Hashimoto's thyroiditis (HT) and control subjects with no personal or family history of autoimmune thyroid disorders. Furthermore, we measured the concentration of the CASQ1 protein in normal and Graves' thyroid tissue, correlating levels with parameters of the eye signs, CASQ1 antibody levels, and the CASQ1 gene polymorphism rs74123279 and rs2275703.

methodsHigh-quality genomic DNA was isolated from fresh blood samples, assayed for identification of rs74123279, rs3747673, and rs2275703 SNPs in CASQ1 gene by MassARRAY SNP analysis using iPLEX technology of SEQUENOM.

resultsDNA samples from 300 patients and 106 control subjects (100 males, 306 females) with GO (n=74), GH (n=130), HT (n=96) and control subjects (n=106) were genotyped for the SNPs rs74123279, rs3747673 (n=405), and rs2275703 (n=407). The SNP rs74123279, rs3747673, and rs2275703 were identified as 1) common homozygous or wild type, 2) heterozygote, and 3) rare homozygous. Minor allele frequency for rs74123279, rs3747763, and rs2275703 were 21%, 40%, and 44%, respectively. Multiple comparisons of genotype frequency for rs74123279, rs3747763, and rs2275703 in the GO, GH, HT, and control groups showed P=0.06, 0.641, and 0.189, respectively. These results were substantiated by multiple comparison of alleles frequency for rs74123279, rs3838216, rs3747763, and rs2275703 in the GO, GH, HT, and control groups showed, P=0.36, 0.008, 0.66, and 0.05, respectively. Pairwise analysis of alleles frequency distribution in patients with GO showed significant probability for rs2275703, P=0.008.

conclusionBased on their evolutionary conservation and their significant prevalence, we suggest that CASQ1 gene SNPs rs74123279, rs3838216, and rs2275703 may be considered as genetic markers for GO.

Indexed as

autoimmune thyroiditiseye muscles antibodiesgenotypingheterozygoushomozygousophthalmologyorbitopathythyroid eye diseasewild-type

Identifiers

PMID26445519
PMCPMC4590686
OpenAlexW1717958639

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.