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Medicina dello Sport 2019 December;72(4):667-75

DOI: 10.23736/S0025-7826.19.03600-7


language: English, Italian

Distributions of genetic polymorphisms in COL12A1 and MMP12 genes in Korean patients with anterior cruciate ligament rupture by recreational sports activities

Byung Y. KANG 1, Seung P. EUN 2, Hoon KIM 3, Jae K. LEE 1, 4

1 Smith College of Liberal Arts, Sahmyook University, Seoul, South Korea; 2 Korea Orthopedic Clinic, Seoul, South Korea; 3 Department of Golf Industry, Daegu University, Gyeongsan, South Korea; 4 Department of Leisure and Sports, Sahmyook University, Seoul, South Korea


BACKGROUND: In order to clarify the precise genetic predisposition associated with the occurrence of anterior cruciate ligament (ACL) rupture in the Korean population, we performed a genetic association study using polymorphic markers in two candidate genes such as collagen type XII α1 chain (COL12A1) gene and matrix metalloproteinase 12 (MMP12) gene.
METHODS: A total of 153 Korean subjects (24.8±8.8 years) including 73 healthy controls and 80 patients with severe ACL rupture by recreational sports activities were recruited as participants. Genotype analyses of a total of two polymorphic markers in each candidate gene were performed utilizing SNaPshot method with total genomic DNA isolated from the peripheral veins of the subjects.
RESULTS: Among two polymorphic markers analyzed in this genetic association study, rs970547 polymorphism in COL12A1 gene was significantly associated with the occurrence of ACL rupture in our subjects (P<0.05), and especially, subjects with the AA genotype exhibited a significantly higher occurrence of ACL rupture compared to those with other genotypes(GG or GA).
CONCLUSIONS: Therefore, our data suggest that the rs970547 polymorphism in the COL12A1 gene may constitute one of the useful genetic markers associated with the inter-individual difference in the occurrence of ACL rupture by recreational sports activities. However, because this study remains preliminary due to modest sample size, further investigations with larger sample size and more candidate genes will be required.

KEY WORDS: Anterior cruciate ligament injuries; Republic of Korea; Polymorphism, genetic

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