Evidence map›Paper›PMID 30577800›Full record

ArticleJournal of orthopaedic surgery and research2018

Whole-genome sequencing reveals novel genes in ossification of the posterior longitudinal ligament of the thoracic spine in the Chinese population.

Chen Liang, Peng Wang, Xiao Liu, Chenlong Yang, Yunlong Ma, Lei Yong, Bin Zhu, Xiaoguang Liu, Zhongjun Liu

Open access · goldAbstract read
In one paragraph

Article in Journal of orthopaedic surgery and research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed, 3 pooled it
0.7field-weighted citation impact, top 26% 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

10 citing papers in PubMed, 3 syntheses or guidelines pooled it, 14 citations in OpenAlex.

  1. Pooled it
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  8. Genetics and Epigenetics of Bone Remodeling and Metabolic Bone Diseases.International journal of molecular sciences · 2022
    Review
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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

9 authors at 1 institution in 1 country.

Chen LiangDepartment of Orthopaedics, Peking University Third Hospital, No. 49, North Garden Road, Haidian District, Beijing, 100191, China.
Peng WangDepartment of Orthopaedics, Peking University Third Hospital, No. 49, North Garden Road, Haidian District, Beijing, 100191, China.
Xiao LiuDepartment of Orthopaedics, Peking University Third Hospital, No. 49, North Garden Road, Haidian District, Beijing, 100191, China.
Chenlong YangDepartment of Orthopaedics, Peking University Third Hospital, No. 49, North Garden Road, Haidian District, Beijing, 100191, China.
Yunlong MaThe Centre for Pain Medicine, Peking University Third Hospital, No. 49, North Garden Road, Haidian District, Beijing, 100191, China.
Lei YongDepartment of Orthopaedics, Peking University Third Hospital, No. 49, North Garden Road, Haidian District, Beijing, 100191, China.
Bin ZhuThe Centre for Pain Medicine, Peking University Third Hospital, No. 49, North Garden Road, Haidian District, Beijing, 100191, China.
Xiaoguang LiuDepartment of Orthopaedics, Peking University Third Hospital, No. 49, North Garden Road, Haidian District, Beijing, 100191, China. xgliuspine@163.com.ORCID http://orcid.org/0000-0001-9501-8438
Zhongjun LiuDepartment of Orthopaedics, Peking University Third Hospital, No. 49, North Garden Road, Haidian District, Beijing, 100191, China.
Peking University · CN

Funding

National Natural Science Foundation of China 81472041
6 · The paper itself

Abstract

backgroundOssification of the posterior longitudinal ligament (OPLL) of the spine is a complex, multifactorial disease. Although several genes that are linked to cervical OPLL susceptibility have been reported, specific genetic studies regarding thoracic OPLL are lacking. Whole-genome sequencing has been considered as an efficient strategy to search for disease-causing genes.

methodsWe analysed whole-genome sequences in a cohort of 25 unrelated patients with thoracic OPLL. Bioinformatics analysis and various algorithms were used to predict deleterious variants. Sanger sequencing was used to confirm the variants.

resultsFour deleterious mutations in three genes (c.2716C>T (p.Arg906Cys) in collagen type VI α6 (COL6A6); c.1946G>C (p.Gly649Ala) in collagen type IX α1 (COL9A1); and c.301T>C (p.Ser101Pro) and c.171A>G (p.Ile57Met) in toll-like receptor 1 (TLR1)) were successfully identified. All the variants were confirmed by Sanger sequencing.

conclusionThe novel deleterious mutations of the three genes may contribute to the development of thoracic OPLL.

Indexed as

MutationAdultAgedAsian PeopleCollagen Type IXCollagen Type VIComputational BiologyFemaleGenetic Predisposition to DiseaseGenotypeHumansMaleMiddle AgedOssification of Posterior Longitudinal LigamentThoracic VertebraeToll-Like Receptor 1COL6A6 protein, humanCOL9A1 protein, humanCollagen Type IXCollagen Type VITLR1 protein, humanToll-Like Receptor 1Ossification of the posterior longitudinal ligamentSusceptible geneThoracicWhole-genome sequencing

Identifiers

PMID30577800
PMCPMC6303868
OpenAlexW2905701982

What OpenQuestion holds

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Registered trials

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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.