RGD Reference Report - Significant association of interleukin-4 gene intron 3 VNTR polymorphism with susceptibility to knee osteoarthritis. - Rat Genome Database

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Significant association of interleukin-4 gene intron 3 VNTR polymorphism with susceptibility to knee osteoarthritis.

Authors: Yigit, S  Inanir, A  Tekcan, A  Tural, E  Ozturk, GT  Kismali, G  Karakus, N 
Citation: Yigit S, etal., Gene. 2014 Mar 1;537(1):6-9. doi: 10.1016/j.gene.2013.12.060. Epub 2014 Jan 7.
RGD ID: 10402787
Pubmed: PMID:24406619   (View Abstract at PubMed)
DOI: DOI:10.1016/j.gene.2013.12.060   (Journal Full-text)

OBJECTIVE: Interleukin-4 (IL-4) is a strong chondroprotective cytokine and polymorphisms within this gene may be a risk factor for osteoarthritis (OA). We aimed to investigate genotype and allele frequencies of IL-4 gene intron 3 variable number of tandem repeats (VNTR) polymorphism in patients with knee OA in a Turkish population. METHODS: The study included 202 patients with knee OA and 180 healthy controls. Genomic DNA was isolated and IL-4 gene 70 bp VNTR polymorphism determined by using polymerase chain reaction (PCR) with specific primers followed by restriction fragment length polymorphism (RFLP) analysis. RESULTS: Our result show that there was statistically significant difference between knee OA patients and control group with respect to IL-4 genotype distribution and allele frequencies (p=0.000, OR: 0.20, 95% CI: 0.10-0.41, OR: 0.22, 95% CI: 0.12-0.42, respectively). CONCLUSIONS: Our findings suggest that there is an association of IL-4 gene intron 3 VNTR polymorphism with susceptibility of a person for development of knee OA. As a result, IL-4 gene intron 3 VNTR polymorphism could be a genetic marker in OA in a Turkish study population. This is the first association study that evaluates the associations between IL-4 gene VNTR polymorphism and knee OA.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Knee Osteoarthritis susceptibilityIAGP 10402787DNA:repeat:intron: (rs8179190) (human)RGD 
Knee Osteoarthritis susceptibilityISOIL4 (Homo sapiens)10402787; 10402787DNA:repeat:intron: (rs8179190) (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Knee osteoarthritis susceptibilityIAGP 10402787DNA:repeat:intron: (rs8179190)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Il4  (interleukin 4)

Genes (Mus musculus)
Il4  (interleukin 4)

Genes (Homo sapiens)
IL4  (interleukin 4)


Additional Information