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Document Type |
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Thesis |
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Document Title |
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Assessment of Single Nucleotide Polymorphisms Osteoarthritis candidate genes for Saudi's تقييم احادي النيوكليوتيد متعدد الاشكال في الجينات المرشحة لإلتهاب المفاصل للسعوديين |
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Subject |
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Faculty of Sciences |
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Document Language |
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Arabic |
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Abstract |
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Osteoarthritis (OA) is the most common form of joint disease, leading to physical disability especially in the elderly individuals, with severely impaired quality of life due to pain and loss of joint functioning. Osteoarthritis is a multifactorial degenerative condition of the joint with a complex pathogenesis whose development and progression is mediated by interactions between the joint cartilage and articular tissues, which results in cartilage deterioration and subchondral bone destruction. Recent candidate-gene studies reported evidence for association of single nucleotide polymorphism (SNP) markers in the Collagen type XI alpha 1 gene (COL11A1), Vascular endothelial growth factor gene (VEGF), Butyrophilin-like 2 gene (BTNL2), Prostaglandin endoperoxide synthase 2 (PTGS2) and Partitioning defective 3 homolog B gene (PARD3B) loci with OA. This study was initiated to investigate the association between defined genetic markers and OA in Saudi Arabia population. We determined single nucleotide polymorphism obtained from (COL11A1) rs4907986, rs4908291 and rs1241164, (VEGF) rs833058, (PTGS2) rs4140564, (BTNL2) rs10947262 and (PARD3B) rs1207421 polymorphisms in 44 Saudi patients with OA and compare them to those present in 80 ethnically healthy controls. Genotyping of these polymorphisms was performed by Real-Time PCR using TaqMan probes. Results of this study showed that, OA appears most frequently in females rather than males, in older patients, and in those with increased BMI. Highest DNA concentration was obtained from saliva samples, while most purified DNA was obtained from blood samples. Our study identified two susceptibility loci of OA: COL11A1 and PTGS2. The genotype and allele frequencies of the SNPs rs4907986 and rs4140564, in OA patients, were significantly different from those in the control group, and associated with probability increased risk for OA. On the other hand, Allele frequencies of the other polymorphic variants were similar in both patients and controls. Results suggest that rs4907986 and rs4140564 polymorphisms might be associated with an increased susceptibility of OA in Saudi's population, and offer the possibility to further study the molecular mechanisms within cartilage and subchondral bone. |
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Supervisor |
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Prof. Rasha Hamed Hussein |
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Thesis Type |
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Master Thesis |
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Publishing Year |
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1438 AH
2017 AD |
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Co-Supervisor |
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Prof. Hanan Saeid Al-nahdi |
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Added Date |
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Monday, February 13, 2017 |
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Researchers
| هديل سليمان العطوي | Alatwi, Hadeel Sulaiman | Researcher | Master | |
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