Collagen Gene Variants and Anterior Cruciate Ligament Rupture in the Korean Population
PURPOSE Anterior cruciate ligament rupture (ACLR) is a common knee ligament injury that occurs in sports. The precise etiology of ACLR remains unknown. Previous studies in various ethnic groups have confirmed an association between genetic variants and ACLR; however, no such research has been conduc...
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The Korean Society of Exercise Physiology
2024-11-01
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| Series: | 운동과학 |
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| Online Access: | http://ksep-es.org/upload/pdf/ksep-2024-00542.pdf |
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| author | Ki-Hoon Seong Kwang-Jun Kim Hee-Jung Park Byung-Hoon Lee Eunwook Chang Dong-Ho Park |
| author_facet | Ki-Hoon Seong Kwang-Jun Kim Hee-Jung Park Byung-Hoon Lee Eunwook Chang Dong-Ho Park |
| author_sort | Ki-Hoon Seong |
| collection | DOAJ |
| description | PURPOSE Anterior cruciate ligament rupture (ACLR) is a common knee ligament injury that occurs in sports. The precise etiology of ACLR remains unknown. Previous studies in various ethnic groups have confirmed an association between genetic variants and ACLR; however, no such research has been conducted in Koreans. This study aimed to investigate whether certain single nucleotide polymorphisms (SNPs), namely COL3A1 rs1800255, COL5A1 rs12722, COL12A1 rs970547, and COL5A1 rs13946, are associated with ACLR in the Korean population. METHODS This study involved 60 ACLR patients (ACL group, average age 29.9±10.9 years) and 328 control subjects (CON group, average age 23.8±4.1 years). All the participants were genotyped for COL3A1 rs1800255, COL5A1 rs12722, COL12A1 rs970547, and COL5A1 rs13946. RESULTS No significant genotypic differences were found for COL3A1 rs1800255 (p=.565), COL5A1 rs12722 (p=.779), COL12A1 rs970547 (p=.193), or COL5A1 rs13946 (p=.356). Furthermore, no significant differences were observed between the homozygous and dominant models for each SNP or between the haplotypes of COL5A1 rs12722 and rs13946 (p=.118). However, a significant association with ACLR was observed for the genotype combinations COL3A1 rs1800255 and COL5A1 rs12722 (p=.02). CONCLUSIONS The results of this study indicate that specific genotypes (SNPs) COL3A1 rs1800255 and COL5A1 rs12722 may influence the occurrence of ACLR. Considering the results and limitations of this study, future research should focus on increasing the sample size, particularly by including both male and female patients of diverse ages, to further validate these findings. |
| format | Article |
| id | doaj-art-4cd351687bc24147a12dae0af7469b25 |
| institution | DOAJ |
| issn | 1226-1726 2384-0544 |
| language | Korean |
| publishDate | 2024-11-01 |
| publisher | The Korean Society of Exercise Physiology |
| record_format | Article |
| series | 운동과학 |
| spelling | doaj-art-4cd351687bc24147a12dae0af7469b252025-08-20T03:07:55ZkorThe Korean Society of Exercise Physiology운동과학1226-17262384-05442024-11-0133440941410.15857/ksep.2024.005421114Collagen Gene Variants and Anterior Cruciate Ligament Rupture in the Korean PopulationKi-Hoon Seong0Kwang-Jun Kim1Hee-Jung Park2Byung-Hoon Lee3Eunwook Chang4Dong-Ho Park5Department of Kinesiology, Inha University, Incheon, KoreaDepartment of Sports Science, Korea Institute of Sports Science, Seoul, KoreaDepartment of Kinesiology, Inha University, Incheon, KoreaDepartment of Orthopaedic Surgery, College of Medicine, Gachon University, Incheon, KoreaDepartment of Kinesiology, Inha University, Incheon, KoreaDepartment of Kinesiology, Inha University, Incheon, KoreaPURPOSE Anterior cruciate ligament rupture (ACLR) is a common knee ligament injury that occurs in sports. The precise etiology of ACLR remains unknown. Previous studies in various ethnic groups have confirmed an association between genetic variants and ACLR; however, no such research has been conducted in Koreans. This study aimed to investigate whether certain single nucleotide polymorphisms (SNPs), namely COL3A1 rs1800255, COL5A1 rs12722, COL12A1 rs970547, and COL5A1 rs13946, are associated with ACLR in the Korean population. METHODS This study involved 60 ACLR patients (ACL group, average age 29.9±10.9 years) and 328 control subjects (CON group, average age 23.8±4.1 years). All the participants were genotyped for COL3A1 rs1800255, COL5A1 rs12722, COL12A1 rs970547, and COL5A1 rs13946. RESULTS No significant genotypic differences were found for COL3A1 rs1800255 (p=.565), COL5A1 rs12722 (p=.779), COL12A1 rs970547 (p=.193), or COL5A1 rs13946 (p=.356). Furthermore, no significant differences were observed between the homozygous and dominant models for each SNP or between the haplotypes of COL5A1 rs12722 and rs13946 (p=.118). However, a significant association with ACLR was observed for the genotype combinations COL3A1 rs1800255 and COL5A1 rs12722 (p=.02). CONCLUSIONS The results of this study indicate that specific genotypes (SNPs) COL3A1 rs1800255 and COL5A1 rs12722 may influence the occurrence of ACLR. Considering the results and limitations of this study, future research should focus on increasing the sample size, particularly by including both male and female patients of diverse ages, to further validate these findings.http://ksep-es.org/upload/pdf/ksep-2024-00542.pdfsnpgenotypecollagenanterior cruciate ligamentrupture |
| spellingShingle | Ki-Hoon Seong Kwang-Jun Kim Hee-Jung Park Byung-Hoon Lee Eunwook Chang Dong-Ho Park Collagen Gene Variants and Anterior Cruciate Ligament Rupture in the Korean Population 운동과학 snp genotype collagen anterior cruciate ligament rupture |
| title | Collagen Gene Variants and Anterior Cruciate Ligament Rupture in the Korean Population |
| title_full | Collagen Gene Variants and Anterior Cruciate Ligament Rupture in the Korean Population |
| title_fullStr | Collagen Gene Variants and Anterior Cruciate Ligament Rupture in the Korean Population |
| title_full_unstemmed | Collagen Gene Variants and Anterior Cruciate Ligament Rupture in the Korean Population |
| title_short | Collagen Gene Variants and Anterior Cruciate Ligament Rupture in the Korean Population |
| title_sort | collagen gene variants and anterior cruciate ligament rupture in the korean population |
| topic | snp genotype collagen anterior cruciate ligament rupture |
| url | http://ksep-es.org/upload/pdf/ksep-2024-00542.pdf |
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