Association between primary osteoarthritis and ADAMTS14 single nucleotide polymorphism in Egyptian population: a case-control study

• Published in: Egyptian Rheumatology and Rehabilitation 2022-12, Vol.49 (1), p.1-6, Article 18
• Main Authors: Mostafa, Noha Abdelhady Abdelsadek, Ibrahim, Ibrahim Khalil, Mikhael, Neveen Lewis, Saba, Emmanuel Kamal Aziz
• Format: Article
• Language: English
• Subjects: ADAMTS14; Egyptians; Medicine; Medicine & Public Health; Osteoarthritis; Rehabilitation; Single nucleotide polymorphism
• ISSN: 1110-161X; 2090-3235
• DOI: 10.1186/s43166-022-00116-2

Background Primary osteoarthritis is considered one of the most common and the most studied musculoskeletal disorder. Nevertheless, the risk factors remain unclear. A disintegrin and metalloproteinase with thrombospondin motifs ( ADAMTS ) 14 ( ADAMTS14 ) gene is involved in the cleavage of amino-terminal propeptides from type II procollagen, a necessary step in the formation of collagen fibers. The abnormal metabolism of collagen fibers type II leads to a decreased mechanical strength of joint cartilage which is one of the most important contributing factors to joint osteoarthritis. We aimed at investigating the association between primary osteoarthritis and ADAMTS14 gene rs4747096 single nucleotide polymorphism in a sample of Egyptian patients and analyzing the relationship between this genetic polymorphism with the severity of osteoarthritis. Sixty-five Egyptian patients who fulfilled the American College of Rheumatology criteria for primary knee osteoarthritis were compared with thirty-one apparently healthy subjects. Genotyping was performed by TaqMan single nucleotide polymorphism genotyping assay. Results There was a statistically significantly higher frequency of AA genotype among osteoarthritis patients compared to the control group ( P = 0.004). The number of affected hand joints was significantly higher among patients with ADAMTS14 AA genotype in comparison to patients with ADAMTS14 AG genotype ( P = 0.002). In addition, AA genotype was associated with statistically significantly higher Kellgren-Lawrence radiological grades in the knee and hand joints (proximal interphalangeal and thumb interphalangeal joints) ( P = 0.037, 0.003, and 0.030 respectively). Conclusion The study showed an association between the AA genotype of ADAMTS14 gene rs4747096 single nucleotide polymorphism with knee and hand osteoarthritis and osteoarthritis severity in these joints. The AA genotype of ADAMTS14 gene rs4747096 single nucleotide polymorphism could be implicated in the increased incidence of primary osteoarthritis development and elevated disease severity among the Egyptian population.