Evidence map›Paper›PMID 18985072›Full record

ArticleEuropean journal of human genetics : EJHG2009

Promoter polymorphism of matrilin-1 gene predisposes to adolescent idiopathic scoliosis in a Chinese population.

Zhijun Chen, Nelson L S Tang, Xingbin Cao, Di Qiao, Long Yi, Jack C Y Cheng, Yong Qiu

Open access · bronzeAbstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
37citing papers in PubMed, 3 pooled it
3.1field-weighted citation impact, top 9% 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

37 citing papers in PubMed, 3 syntheses or guidelines pooled it, 96 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Genetics and pathogenesis of scoliosis.North American Spine Society journal · 2024
    Article
  5. Review
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  9. Orofacial Cleft and Mandibular Prognathism-Human Genetics and Animal Models.International journal of molecular sciences · 2022
    Review
  10. Article
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  12. Quantitative evaluation of the relationship between COMP promoter methylation and the susceptibility and curve progression of adolescent idiopathic scoliosis.European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2018
    Article
  13. Positive Association betweenAnalytical cellular pathology (Amsterdam) · 2018
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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

7 authors at 3 institutions in 1 country.

Zhijun ChenSpine Surgery, the Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing, China.
Nelson L S Tang
Xingbin Cao
Di Qiao
Long Yi
Jack C Y Cheng
Yong Qiu
Nanjing University · CNChinese University of Hong Kong · CNNanjing Drum Tower Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Adolescent idiopathic scoliosis (AIS) is widely recognized as a complex disorder with a strong genetic predisposition. In previous studies, a number of extracellular matrixes (ECMs) related genes have been duplicated as candidate genes for AIS. Matrilin-1 plays an important role in the organization of the ECM, and matrilin-1 gene (MATN1) mutant mice showed similar phenotypes to scoliosis. We hypothesized that MATN1 was a candidate predisposition gene for AIS. A gene-based association study was conducted using seven tagging SNPs identified from the HapMap data. For initial screening, the seven tagSNPs were genotyped in 197 cases and 172 controls. Next, we validated any significant association in an additional sample of 222 cases and 288 controls. In addition, another 290 controls were genotyped to confirm the results. We found that allele G of rs1149048 was a significant predisposition allele of AIS (P=0.0007, odds ratio (OR)=1.35 within 95% confidence interval (CI)=1.14-1.61), and individuals with genotype GG had a higher risk for AIS compared with AA+AG (P=0.0001, OR=1.61 within 95% CI=1.25-2.08). Polymorphism of rs1149048 was also associated with curve severity in AIS patients. Also, a significantly higher maximum Cobb angle was found in patients with GG genotype (P=0.002). We concluded that the tagSNP rs1149048 polymorphism in the MATN1 promoter region was associated with both susceptibility and disease progression in AIS.

Indexed as

Genetic Predisposition to DiseasePolymorphism, GeneticPromoter Regions, GeneticAdolescentAsian PeopleCartilage Oligomeric Matrix ProteinCase-Control StudiesChildChinaExtracellular Matrix ProteinsFemaleGenotypeGlycoproteinsHumansLinkage DisequilibriumMaleCartilage Oligomeric Matrix ProteinExtracellular Matrix ProteinsGlycoproteinsMATN1 protein, humanMatn1 protein, mouseMatrilin ProteinsTSP5 protein, human

Identifiers

PMID18985072
PMCPMC2986210
OpenAlexW1963726154

What OpenQuestion holds

Textmetadata
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.