Magnusson Karin, Turkiewicz Aleksandra, Hughes Velocity, Frobell Richard, Englund Martin
Lund University, Faculty of Medicine, Department of Clinical Sciences Lund, Orthopaedics, Clinical Epidemiology Unit, Lund, Sweden
Diakonhjemmet Hospital, Department of Rheumatology, National Advisory Unit on Rehabilitation in Rheumatology, Oslo, Norway.
Br J Sports Med. 2020 Dec 7. doi: 10.1136/bjsports-2020-102392.
We aimed to determine the lifetime genetic risk for anterior cruciate ligament (ACL) rupture.
We used a twin study approach, linking the Swedish Twin Register with national healthcare data to form a 30 year, population wide, longitudinal twin cohort. We studied ACL rupture in this cohort of 88 414 identical and fraternal twins, aged ≥17 years, to determine the familial risk and heritability of ACL rupture.
The incidence rate of ACL rupture was 70 (95% CI 66 to 74) per 100 000 person years. The familial risk, which is the excess risk ratio (RR) of the second twin having ACL rupture given that the first twin has had such a rupture, was higher in identical twin pairs (RR=8.6, 95% CI 6.2 to 11.0) than in fraternal twin pairs (RR=1.9, 95% CI 0.9 to 3.0). The overall heritability of ACL rupture was high, 69% (95% CI 47 to 91), increasing from 60% at age 17 years to 80% at age 60 years. Women and men had similar familial risk and heritability of ACL rupture.
The genetic contribution to ACL rupture of ~69% is high and suggests strong familial clustering. If clinicians recognise the high genetic risk of such injury, they may be better able to counsel athletes whose near relatives have had ACL rupture.
我们旨在确定前交叉韧带(ACL)断裂的终生遗传风险。
我们采用了一项双生子研究方法,将瑞典双生子登记册与国家医疗保健数据相链接,以形成一个为期30年、涵盖全人群的纵向双生子队列。我们在这个由88414对年龄≥17岁的同卵和异卵双生子组成的队列中研究ACL断裂情况,以确定ACL断裂的家族风险和遗传度。
ACL断裂的发病率为每10万人年70例(95%置信区间66至74)。家族风险,即第一个双生子发生ACL断裂时第二个双生子发生ACL断裂的额外风险比(RR),在同卵双生子对中(RR = 8.6,95%置信区间6.2至11.0)高于异卵双生子对(RR = 1.9,95%置信区间0.9至3.0)。ACL断裂的总体遗传度较高,为69%(95%置信区间47至91),从17岁时的60%增加到60岁时的80%。男性和女性在ACL断裂的家族风险和遗传度方面相似。
遗传因素对ACL断裂的贡献率约为69%,这一比例很高,表明存在强烈的家族聚集性。如果临床医生认识到这种损伤的高遗传风险,他们可能能够更好地为其近亲发生过ACL断裂的运动员提供咨询。