الفهرس 
INTRODUCTIONOnly 14 pages are availabe for public view
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Abstract
Osteoarthritis is the most common chronic, progressive musculoskeletal disease worldwide. It is the leading cause of disability amongst older adult and represents a significant health and socioeconomic burden. It is a disorder of joint pain accompanied by varying degrees of functional limitation and considerable reduction in the quality of life. It affects the whole joint including bone, muscles, ligaments and synovium. It is a multifactorial joint disease involving metabolic, biochemical and genetic factors.
The heritability studies have shown that genetic components account for approximately half of the risk for development of knee OA. In addition, various genetic polymorphisms may be associated with knee OA in certain ethnic groups, the most compelling OA risk allele has been to GDF5 (rs143383) a C/T SNP.
The GDF5 gene encodes the expression of GDF5 protein. It is a member of the transforming growth factor-β (TGF-β) superfamily and participates in the development, maintenance and repair of bone, cartilage and other tissues of the synovial joint, with penetrant and rare deleterious mutations of the GDF5 gene resulting in dominant skeletal defects. Moreover, it has been demonstrated to show reduced transcriptional activity in chondrogenic cells.
The aim of this study was to determine the genetic association between growth differentiation factor 5 (GDF5) single nucleotide polymorphism (SNP) and primary knee osteoarthritis in a group of Egyptian patients.
The present study was conducted on two groups, the patient group consisted of 47 patients with primary knee OA according ACR criteria. All patients were subjected to complete knee clinical examination. Disease severity was assessed by radiological K/L grading system.
Western Ontario and Mcmaster Universities Osteoarthritis Index (WOMAC) was used to assess severity of self-reported pain, stiffness and physical function limitation and HAQ score to assess the disability. The second group contained 20 age and sex matched healthy control subjects. Serum GDF5 (rs143383) SNP was detected by restriction fragment length polymorphism - polymerase chain reaction (RFLP-PCR) in both groups.
The current case-control study revealed the lack of genetic influence of GDF5 (rs143383) SNP on the development of primary knee OA. There was no significant difference in the frequency distribution in the genotype and allele of the rs143383 SNP of the GDF5 gene in knee OA patients and healthy control subjects.
There was statistically significant association between different GDF5 genotypes and K/L radiological grading of knee OA among the studied patients.
The total WOMAC score and function difficulty subscale were significantly higher among patients with TT genotype compared to patients with CT and CC genotypes. Pain and stiffness subscales were lower among patients with CC genotype in comparison to TT and CT genotypes.