RGD Reference Report - Association of ADAMTS5 gene polymorphisms with osteoarthritis in Chinese Han population: a community-based case-control study. - Rat Genome Database

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Association of ADAMTS5 gene polymorphisms with osteoarthritis in Chinese Han population: a community-based case-control study.

Authors: Gu, J  Rong, J  Guan, F  Jiang, L  Zhang, T  Tao, S  Guan, G  Xu, L  Tao, T 
Citation: Gu J, etal., Rheumatol Int. 2013 Nov;33(11):2893-7. doi: 10.1007/s00296-012-2506-1. Epub 2012 Sep 9.
RGD ID: 10043102
Pubmed: PMID:22961118   (View Abstract at PubMed)
DOI: DOI:10.1007/s00296-012-2506-1   (Journal Full-text)

Aggrecanase-2 (ADAMTS5) is reported to play essential roles in the pathophysiology of osteoarthritis (OA). To explore the relationship between ADAMTS5 gene polymorphisms and primary OA, we conducted a community-based case-control study. A total of 732 community residents aged 40-84 years participated in the community-based study in Northeast China. After taking physical examination and radiographic examination, 420 persons of the residents were diagnosed OA (216 women and 204 men). The other 312 individuals without any symptoms of osteoarthritis or signs in the radiographs (156 women and 156 men) were considered as healthy controls. After obtaining the DNA of patients and control group, genotypes of the ADAMTS5 gene polymorphisms were determined by polymerase chain reaction (PCR) followed by restriction enzyme digestion (HAEIII for P692L in exon 7 and BSRBI for R614H in exon 5). The numbers of patients with different OA subtypes were also calculated. The genotype and allele frequency of for the exon 5C/T BSRBI polymorphism was significantly different between OA patients and control individuals (P = 0.001, OR = 0.701, 95% CI = 0.569-0.863). This difference was more obvious in cervical OA patients (P = 0.001, OR = 0.664, 95% CI = 0.521-0.847). The mutation type of exon 5C/T BSRBI polymorphism would be a protective factor for OA especially for cervical OA. Our results suggest that the ADAMTS5 gene polymorphisms may contribute to the susceptibility of osteoarthritis in the Chinese Han population.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
osteoarthritis  IAGP 10043102DNA:missense mutation:exon:p.R614H (human)RGD 
osteoarthritis  ISOADAMTS5 (Homo sapiens)10043102; 10043102DNA:missense mutation:exon:p.R614H (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Osteoarthritis  IAGP 10043102DNA:missense mutation:exon:p.R614HRGD 
Objects Annotated

Genes (Rattus norvegicus)
Adamts5  (ADAM metallopeptidase with thrombospondin type 1 motif, 5)

Genes (Mus musculus)
Adamts5  (ADAM metallopeptidase with thrombospondin type 1 motif 5)

Genes (Homo sapiens)
ADAMTS5  (ADAM metallopeptidase with thrombospondin type 1 motif 5)


Additional Information