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http://purl.uniprot.org/citations/32681364http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/32681364http://www.w3.org/2000/01/rdf-schema#comment"

Introduction/objectives

Osteoarthritis (OA) ranks the most common joint disorder and the leading cause of disability. Growing evidence has revealed that OA has a strong genetic background, except for aging and obesity. The aim of this study is to determine the associations between potential functional variants of the GLIS3 and GLIS3-AS1 gene and risk of knee OA among a Chinese population.

Methods

In this case-control study with 810 knee OA cases and 900 healthy controls, seven selected functional SNPs of the GLIS3 and GLIS3-AS1 gene were evaluated.

Results

We found minor alleles of rs10116772 (OR: 0.80, 95% CI: 0.69-0.92, P = 0.002), rs7045410 (OR: 0.74, 95% CI: 0.61-0.92, P = 0.005), and rs7032713 (OR: 0.76, 95% CI: 0.63-0.93, P = 0.006) were significantly associated with decreased risk of knee OA. Results of the dominant and recessive model, stratified analyses using Kellgren-Lawrence (KL) grading presented that the significant associations were not materially changed. Haplotype analysis indicated that haplotype CGT (OR: 0.66, 95% CI: 0.46-0.96, P = 0.031) and ATT (OR: 0.76, 95% CI: 0.6-0.95, P = 0.017) were significantly associated with decreased risk of knee OA. Further, they were also significantly associated with lower expression level of GLIS3, as well as higher expression level of GLIS3-AS1 in the articular cartilage specimens. Genotype-tissue expression (GTEX) data also validated that minor alleles of rs7045410 and rs7032713 were significantly associated with higher expression level of GLIS3-AS1 in thyroid and pituitary tissues (P < 0.001).

Conclusions

These findings revealed the essential role of genetic variants of the GLIS3 and GLIS3-AS1 gene in the occurrence of knee OA together. Key Point • Functional variants of the GLIS3 and GLIS3-AS1 gene were significantly associated with decreased risk of knee OA."xsd:string
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http://purl.uniprot.org/citations/32681364http://purl.uniprot.org/core/author"Zhang B."xsd:string
http://purl.uniprot.org/citations/32681364http://purl.uniprot.org/core/author"Zhang C.L."xsd:string
http://purl.uniprot.org/citations/32681364http://purl.uniprot.org/core/author"Zhang J.L."xsd:string
http://purl.uniprot.org/citations/32681364http://purl.uniprot.org/core/author"Yang H.T."xsd:string
http://purl.uniprot.org/citations/32681364http://purl.uniprot.org/core/author"Zhou B.G."xsd:string
http://purl.uniprot.org/citations/32681364http://purl.uniprot.org/core/author"Lei B.Y."xsd:string
http://purl.uniprot.org/citations/32681364http://purl.uniprot.org/core/date"2021"xsd:gYear
http://purl.uniprot.org/citations/32681364http://purl.uniprot.org/core/name"Clin Rheumatol"xsd:string
http://purl.uniprot.org/citations/32681364http://purl.uniprot.org/core/pages"1039-1046"xsd:string
http://purl.uniprot.org/citations/32681364http://purl.uniprot.org/core/title"Association study of the functional variants of the GLIS3 gene with risk of knee osteoarthritis."xsd:string
http://purl.uniprot.org/citations/32681364http://purl.uniprot.org/core/volume"40"xsd:string
http://purl.uniprot.org/citations/32681364http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/32681364
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