Identification of copy number variants contributing to hallux valgus Article Swipe
Wentao Zhou
,
Jun Jia
,
Hui‐Qi Qu
,
Feier Ma
,
Junyi Li
,
Xiaohui Qi
,
Xinyi Meng
,
Zhiyong Ding
,
Gang Zheng
,
Hákon Hákonarson
,
Xiantie Zeng
,
Jin Li
,
Qianghua Xia
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.3389/fgene.2023.1116284
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.3389/fgene.2023.1116284
Hallux valgus is a common form of foot deformity, and genetic factors contribute substantially to the pathogenesis of hallux valgus deformity. We conducted a genetic study on the structural variants underlying familial hallux valgus using whole exome sequencing approach. Twenty individuals from five hallux valgus families and two sporadic cases were included in this study. A total of 372 copy number variations were found and passed quality control filtering. Among them, 43 were only present in cases but not in controls or healthy individuals in the database of genomic variants. The genes covered by these copy number variations were enriched in gene sets related to immune signaling pathway, and cytochrome P450 metabolism. The hereditary CNVs demonstrate a dominant inheritance pattern. Two candidate pathogenic CNVs were further validated by quantitative-PCR. This study suggests that hallux valgus is a degenerative joint disease involving the dysregulation of immune and metabolism signaling pathways.
Related Topics
Concepts
Valgus
Copy-number variation
Genetics
Biology
Valgus deformity
Exome sequencing
Candidate gene
Computational biology
Gene
Medicine
Bioinformatics
Deformity
Phenotype
Genome
Orthodontics
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3389/fgene.2023.1116284
- https://www.frontiersin.org/articles/10.3389/fgene.2023.1116284/pdf
- OA Status
- gold
- Cited By
- 4
- References
- 60
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4360617466
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4360617466Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.3389/fgene.2023.1116284Digital Object Identifier
- Title
-
Identification of copy number variants contributing to hallux valgusWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2023Year of publication
- Publication date
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2023-03-23Full publication date if available
- Authors
-
Wentao Zhou, Jun Jia, Hui‐Qi Qu, Feier Ma, Junyi Li, Xiaohui Qi, Xinyi Meng, Zhiyong Ding, Gang Zheng, Hákon Hákonarson, Xiantie Zeng, Jin Li, Qianghua XiaList of authors in order
- Landing page
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https://doi.org/10.3389/fgene.2023.1116284Publisher landing page
- PDF URL
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https://www.frontiersin.org/articles/10.3389/fgene.2023.1116284/pdfDirect link to full text PDF
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YesWhether a free full text is available
- OA status
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goldOpen access status per OpenAlex
- OA URL
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https://www.frontiersin.org/articles/10.3389/fgene.2023.1116284/pdfDirect OA link when available
- Concepts
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Valgus, Copy-number variation, Genetics, Biology, Valgus deformity, Exome sequencing, Candidate gene, Computational biology, Gene, Medicine, Bioinformatics, Deformity, Phenotype, Genome, OrthodonticsTop concepts (fields/topics) attached by OpenAlex
- Cited by
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4Total citation count in OpenAlex
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2024: 4Per-year citation counts (last 5 years)
- References (count)
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60Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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