Sports Orthopedic Research Center - Copenhagen (SORC-C), Department of Orthopedic Surgery, Copenhagen University Hospital, Hvidovre, Denmark.
Sports Orthopedic Research Center - Copenhagen (SORC-C), Department of Orthopedic Surgery, Copenhagen University Hospital, Hvidovre, Denmark.
Foot Ankle Surg. 2022 Oct;28(7):1050-1054. doi: 10.1016/j.fas.2022.02.015. Epub 2022 Feb 25.
It is unknown if genetics contribute to the etiology of acute Achilles tendon rupture (ATR). The aims of the present study were, 1) To calculate the concordance rate for monozygotic (MZ) twins and same-sex dizygotic (SSDZ) twins and 2) to estimate the heritability of ATR.
The study was performed as a registry study using the Danish Twin Registry and the Danish National Patient Registry.
The study sample consisted of 85,534 twins born from 1895 to 1995. Of these, 572 (0.67%) were registered with ATR in the period from 1994 to 2014. The concordance rate was 8.1% (95% CI 1.4-14.7%) for MZ twins and 4.3% (95% CI 0.7-7.9%) for SSDZ twins. The heritability of ATR was 47% (95% CI 31-62%).
This study found that genetics contribute substantially to the etiology of ATR with an estimated heritability of the liability to ATR of approximately 50%. The finding generates the hypothesis that genetics play a role in the pathological changes that occur in the Achilles tendon before a rupture. The risk of ATR for a twin within a 20 year period, if the co-twin has had an ATR, was 8% for MZ twins and 4% for SSDZ twins.
目前尚不清楚遗传学是否与急性跟腱断裂（ATR）的病因有关。本研究的目的是：1）计算同卵（MZ）双胞胎和同性别异卵（SSDZ）双胞胎的一致性率；2）估计 ATR 的遗传性。
本研究采用丹麦双胞胎登记处和丹麦国家患者登记处进行了一项登记研究。
研究样本包括 1895 年至 1995 年出生的 85534 对双胞胎。其中，1994 年至 2014 年期间有 572 例（0.67%）被登记为 ATR。MZ 双胞胎的一致性率为 8.1%（95%CI 1.4-14.7%），SSDZ 双胞胎的一致性率为 4.3%（95%CI 0.7-7.9%）。ATR 的遗传率为 47%（95%CI 31-62%）。
本研究发现遗传学对 ATR 的病因学有很大贡献，ATR 的易感性估计约为 50%。这一发现提出了一个假设，即遗传学在跟腱断裂前发生的病理变化中起作用。如果双胞胎的同卵双胞胎发生过 ATR，那么双胞胎在 20 年内发生 ATR 的风险为 MZ 双胞胎的 8%，SSDZ 双胞胎的 4%。
