双胞胎的手术治疗退行性腰椎疾病。
Surgically Treated Degenerative Lumbar Spine Diseases in Twins.
机构信息
Department of Orthopedics, Orebro University Hospital, Orebro, Sweden.
Orebro University School of Medical Sciences, Orebro, Sweden.
出版信息
J Bone Joint Surg Am. 2024 May 15;106(10):891-895. doi: 10.2106/JBJS.23.00902. Epub 2024 Feb 22.
BACKGROUND
There is growing evidence to suggest a potential genetic component underlying the development and progression of lumbar spine diseases. However, the heritability and the concordance rates for the phenotypes requiring surgery for the common spine diseases lumbar spinal stenosis (LSS) and lumbar disc herniation (LDH) are unknown. The aim of this study was to determine the heritability and the concordance rates for LSS and LDH requiring surgery by studying monozygotic (MZ) and dizygotic (DZ) twin pairs.
METHODS
Patients between 18 and 85 years of age who underwent surgery for LSS or LDH between 1996 and 2022 were identified in the national Swedish spine registry (LSS: 45,110 patients; LDH: 39,272 patients), and matched with the Swedish Twin Registry to identify MZ and DZ twins. Pairwise and probandwise concordance rates, heritability estimates, and MZ/DZ concordance ratios were calculated.
RESULTS
We identified 414 twin pairs (92 MZ and 322 DZ pairs) of whom 1 or both twins underwent surgery for LSS. The corresponding number for LDH was 387 twin pairs (118 MZ and 269 DZ pairs). The probandwise concordance rate for LSS requiring surgery was 0.25 (26 of 105) (95% confidence interval [CI], 0.14 to 0.34) for MZ twins and 0.04 (12 of 328) (95% CI, 0.01 to 0.07) for DZ twins. The corresponding values for LDH requiring surgery were 0.03 (4 of 120) (95% CI, 0 to 0.08) and 0.01 (4 of 271) (95% CI, 0 to 0.04), respectively. The probandwise MZ/DZ concordance ratio was 6.8 (95% CI, 2.9 to 21.5) for LSS and 2.3 (95% CI, 0 to 8.9) for LDH. The heritability was significantly higher in LSS compared with LDH (0.64 [95% CI, 0.50 to 0.74] versus 0.19 [95% CI, 0.08 to 0.35]).
CONCLUSIONS
Our findings suggest that genetic factors may play an important role in the risk of developing LSS requiring surgery, whereas heredity seems to be of less importance in LDH requiring surgery.
LEVEL OF EVIDENCE
Prognostic Level III . See Instructions for Authors for a complete description of levels of evidence.
背景
越来越多的证据表明，腰椎疾病的发展和进展可能存在潜在的遗传因素。然而，对于常见脊柱疾病腰椎管狭窄症（LSS）和腰椎间盘突出症（LDH）需要手术治疗的表型，遗传率和一致性率尚不清楚。本研究旨在通过研究同卵（MZ）和异卵（DZ）双胞胎来确定需要手术治疗的 LSS 和 LDH 的遗传率和一致性率。
方法
在全国瑞典脊柱登记处（LSS：45,110 名患者；LDH：39,272 名患者）中确定了 18 至 85 岁之间因 LSS 或 LDH 接受手术治疗的患者，并与瑞典双胞胎登记处进行匹配，以确定 MZ 和 DZ 双胞胎。计算了双胞胎之间、先证者之间的一致性率、遗传率和 MZ/DZ 一致性比。
结果
我们确定了 414 对双胞胎（92 对 MZ 和 322 对 DZ），其中 1 对或 2 对双胞胎因 LSS 接受了手术治疗。LDH 的相应数字为 387 对双胞胎（118 对 MZ 和 269 对 DZ）。需要手术治疗的 LSS 的先证者一致性率为 0.25（26 例中的 105 例）（95%置信区间 [CI]，0.14 至 0.34），对于 MZ 双胞胎为 0.04（12 例中的 328 例）（95% CI，0.01 至 0.07）。需要手术治疗的 LDH 的相应值分别为 0.03（4 例中的 120 例）（95% CI，0 至 0.08）和 0.01（4 例中的 271 例）（95% CI，0 至 0.04）。先证者 MZ/DZ 一致性比为 LSS 6.8（95% CI，2.9 至 21.5）和 LDH 2.3（95% CI，0 至 8.9）。与 LDH 相比，LSS 的遗传率显著更高（0.64[95%CI，0.50 至 0.74]与 0.19[95%CI，0.08 至 0.35]）。
结论
我们的研究结果表明，遗传因素可能在 LSS 发生和发展中发挥重要作用，而遗传因素在 LDH 发生和发展中似乎不太重要。
证据水平
预后 III 级。欲了解完整的证据水平说明，请参见作者说明。
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