Genetic variants in COL11A2 of lumbar disk degeneration among Chinese Han population.
COL11A2
Chinese Han population
Type XI collagen
lumbar disk degeneration
Journal
Molecular genetics & genomic medicine
ISSN: 2324-9269
Titre abrégé: Mol Genet Genomic Med
Pays: United States
ID NLM: 101603758
Informations de publication
Date de publication:
02 2019
02 2019
Historique:
received:
19
07
2018
revised:
05
11
2018
accepted:
05
11
2018
pubmed:
15
12
2018
medline:
12
4
2019
entrez:
15
12
2018
Statut:
ppublish
Résumé
Lumbar disk disease (LDD) is a common musculoskeletal disorder. Several predisposing genetic and environmental risk factors have been established for symptomatic LDD. We conducted a case-control association study to investigate the role of the COL11A2 gene in LDD. Genotyping of 384 Chinese Han LDD patients and 384 Chinese Han controls was made for six single-nucleotide polymorphisms (SNPs) from COL11A2 by Agena Massarray. We evaluated these SNPs association with LDD using the chi-square test and genetic model analysis. The strongest associations with LDD were observed for polymorphisms in rs2071025. Carriers of "A" allele had an increased risk of LDD (OR = 1.47, 95% CI = 1.20-1.80, p = 0.0002) as compared with the "G" allele in allele model. We found that rs2071025 were associated with LDD in female and male from the stratification analyses (p < 0.05). Genetic models showed that rs986522(C) significantly increased the risk of LDD in female; however, in males, we did not find significant associations between the rs986522 and LDD risk. This study showed a genetic association with COL11A2 polymorphism in individuals with LDD. These data may provide novel insights into the pathogenesis of LDD, although further studies with larger numbers of participants worldwide are needed for validation of our conclusions.
Sections du résumé
BACKGROUND
Lumbar disk disease (LDD) is a common musculoskeletal disorder. Several predisposing genetic and environmental risk factors have been established for symptomatic LDD.
METHODS
We conducted a case-control association study to investigate the role of the COL11A2 gene in LDD. Genotyping of 384 Chinese Han LDD patients and 384 Chinese Han controls was made for six single-nucleotide polymorphisms (SNPs) from COL11A2 by Agena Massarray. We evaluated these SNPs association with LDD using the chi-square test and genetic model analysis.
RESULTS
The strongest associations with LDD were observed for polymorphisms in rs2071025. Carriers of "A" allele had an increased risk of LDD (OR = 1.47, 95% CI = 1.20-1.80, p = 0.0002) as compared with the "G" allele in allele model. We found that rs2071025 were associated with LDD in female and male from the stratification analyses (p < 0.05). Genetic models showed that rs986522(C) significantly increased the risk of LDD in female; however, in males, we did not find significant associations between the rs986522 and LDD risk.
CONCLUSION
This study showed a genetic association with COL11A2 polymorphism in individuals with LDD. These data may provide novel insights into the pathogenesis of LDD, although further studies with larger numbers of participants worldwide are needed for validation of our conclusions.
Identifiants
pubmed: 30548218
doi: 10.1002/mgg3.524
pmc: PMC6393657
doi:
Substances chimiques
COL11A2 protein, human
0
Collagen Type XI
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e00524Informations de copyright
© 2018 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.
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