No Association Between Risk of Anterior Cruciate Ligament Rupture and Selected Candidate Collagen Gene Variants in Female Elite Athletes From High-Risk Team Sports

Abstract

Background:

Several single-nucleotide variants (SNVs) in collagen genes have been reported as predisposing factors for anterior cruciate ligament (ACL) tears. However, the evidence is conflicting and does not support a clear association between genetic variants and risk of ACL ruptures.

Purpose:

To assess the association of previously identified candidate SNVs in genes encoding for collagen and the risk of ACL injury in a population of elite female athletes from high-risk team sports.

Study Design:

Cohort study; Level of evidence, 2.

Methods:

A total of 851 female Norwegian and Finnish elite athletes from team sports were included from 2007 to 2011. ACL injuries acquired before inclusion in the cohort were registered by interview. The participants were followed prospectively through 2015 to record new complete ACL injuries. Six selected SNVs were genotyped (COL1A1: rs1800012, rs1107946; COL3A1: rs1800255; COL5A1: rs12722, rs13946; COL12A1: rs970547).

Results:

No associations were found between ACL rupture and the SNVs tested.

Conclusion:

The study does not support a role of the 6 selected SNVs in genes encoding for collagen proteins as risk factors for ACL injury.

Clinical Relevance:

Genetic profiling to identify athletes at high risk for ACL rupture is not yet feasible.

Keywords

genetic risk female athlete anterior cruciate ligament team sports gene polymorphisms

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References

Beynnon

Vacek

Newell

et al . The effects of level of competition, sport, and sex on the incidence of first-time noncontact anterior cruciate ligament injury. Am J Sports Med. 2014;42(8):1806-1812.

Collins

Posthumus

Schwellnus

. The COL1A1 gene and acute soft tissue ruptures. Br J Sports Med. 2010;44(14):1063-1064.

Ficek

Cieszczyk

Kaczmarczyk

et al . Gene variants within the COL1A1 gene are associated with reduced anterior cruciate ligament injury in professional soccer players. J Sci Med Sport. 2013;16(5):396-400.

Ficek

Stepien-Slodkowska

Kaczmarczyk

et al . Does the A9285G polymorphism in collagen type XII alpha1 gene associate with the risk of anterior cruciate ligament ruptures? Balkan J Med Genet. 2014;17(1):41-46.

Flynn

Pedersen

Birmingham

Kirkley

Jackowski

Fowler

. The familial predisposition toward tearing the anterior cruciate ligament: a case control study. Am J Sports Med. 2005;33(1):23-28.

Gianotti

Marshall

Hume

Bunt

. Incidence of anterior cruciate ligament injury and other knee ligament injuries: a national population-based study. J Sci Med Sport. 2009;12(6):622-627.

Gonzalez

Armengol

Sole

et al . SNPassoc: an R package to perform whole genome association studies. Bioinformatics. 2007;23(5):644-645.

Gornitzky

Lott

Yellin

Fabricant

Lawrence

Ganley

. Sport-specific yearly risk and incidence of anterior cruciate ligament tears in high school athletes: a systematic review and meta-analysis. Am J Sports Med. 2016;44(10):2716-2723.

Harner

Paulos

Greenwald

Rosenberg

Cooley

. Detailed analysis of patients with bilateral anterior cruciate ligament injuries. Am J Sports Med. 1994;22(1):37-43.

10.

Hewett

Lynch

Myer

Ford

Gwin

Heidt

Jr . Multiple risk factors related to familial predisposition to anterior cruciate ligament injury: fraternal twin sisters with anterior cruciate ligament ruptures. Br J Sports Med. 2010;44(12):848-855.

11.

Hoffmann

Gross

. Tendon and ligament engineering in the adult organism: mesenchymal stem cells and gene-therapeutic approaches. Int Orthop. 2007;31(6):791-797.

12.

John

Dhillon

Sharma

Prabhakar

Bhandari

. Is there a genetic predisposition to anterior cruciate ligament tear? A systematic review. Am J Sports Med. 2016;44(12):3262-3269.

13.

John

Prabhakar

Dhillon

Anand

Minhas

. Association of ACL tears and single nucleotide polymorphisms in the collagen 12 A1 gene in the Indian population—a preliminary case-control study. Muscles Ligaments Tendons J. 2016;6(2):253-257.

14.

Joseph

Collins

Henke

Yard

Fields

Comstock

. A multisport epidemiologic comparison of anterior cruciate ligament injuries in high school athletics. J Athl Train. 2013;48(6):810-817.

15.

Kaynak

Nijman

van Meurs

Reijman

Meuffels

. Genetic variants and anterior cruciate ligament rupture: a systematic review. Sports Med. 2017;47(8):1637-1650.

16.

Khoschnau

Melhus

Jacobson

et al . Type I collagen alpha1 Sp1 polymorphism and the risk of cruciate ligament ruptures or shoulder dislocations. Am J Sports Med. 2008;36(12):2432-2436.

17.

Kim

Roos

et al . Genome-wide association screens for Achilles tendon and ACL tears and tendinopathy. PLoS One. 2017;12(3):e0170422.

18.

Krosshaug

Steffen

Kristianslund

et al . The vertical drop jump is a poor screening test for ACL injuries in female elite soccer and handball players: a prospective cohort study of 710 athletes. Am J Sports Med. 2016;44(4):874-883.

19.

Leppanen

Pasanen

Kujala

et al . Stiff landings are associated with increased ACL injury risk in young female basketball and floorball players: response. Am J Sports Med. 2017;45(3):NP5-NP6.

20.

Montalvo

Schneider

Yut

et al . “What’s my risk of sustaining an ACL injury while playing sports?” A systematic review with meta-analysis [published online March 7, 2018]. Br J Sports Med. doi:10.1136/bjsports-2016-096274

21.

O’Connell

Knight

Ficek

et al . Interactions between collagen gene variants and risk of anterior cruciate ligament rupture. Eur J Sport Sci. 2015;15(4):341-350.

22.

Pasanen

Rossi

Parkkari

et al . Predictors of lower extremity injuries in team sports (PROFITS-study): a study protocol. BMJ Open Sport Exerc Med. 2015;1(1):e000076.

23.

Posthumus

September

Keegan

et al . Genetic risk factors for anterior cruciate ligament ruptures: COL1A1 gene variant. Br J Sports Med. 2009;43(5):352-356.

24.

Posthumus

September

O’Cuinneagain

van der Merwe

Schwellnus

Collins

. The association between the COL12A1 gene and anterior cruciate ligament ruptures. Br J Sports Med. 2010;44(16):1160-1165.

25.

Posthumus

September

O’Cuinneagain

van der Merwe

Schwellnus

Collins

. The COL5A1 gene is associated with increased risk of anterior cruciate ligament ruptures in female participants. Am J Sports Med. 2009;37(11):2234-2240.

26.

Raleigh

Posthumus

O’Cuinneagain

van der Merwe

Collins

. The GDF5 gene and anterior cruciate ligament rupture. Int J Sports Med. 2013;34(4):364-367.

27.

Stepien-Slodkowska

Ficek

Eider

et al . The +1245g/t polymorphisms in the collagen type I alpha 1 (COL1A1) gene in Polish skiers with anterior cruciate ligament injury. Biol Sport. 2013;30(1):57-60.

28.

Stepien-Slodkowska

Ficek

Kaczmarczyk

et al . The variants within the COL5A1 gene are associated with reduced risk of anterior cruciate ligament injury in skiers. J Hum Kinet. 2015;45:103-111.

29.

Stepien-Slodkowska

Ficek

Maciejewska-Karlowska

et al . Overrepresentation of the COL3A1 AA genotype in Polish skiers with anterior cruciate ligament injury. Biol Sport. 2015;32(2):143-147.

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