Marek Holy, Lilla Szigethy, Per Wretenberg, Anna MacDowall, Freyr Gauti Sigmundsson, Anders Joelson
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Abstract
Purpose: Genetic factors are considered important in the development of degenerative spine disease. The aim of this study was to determine the twin concordance rates for the common cervical spine diseases cervical disk herniation (CDH), cervical foraminal stenosis (CFS), and degenerative cervical myelopathy (DCM) requiring surgical treatment by studying monozygotic (MZ) and dizygotic (DZ) twin pairs.
Methods: Patients, aged 18-85 years, operated for CDH, CFS, or DCM between 1996 and 2022 were identified in the national Swedish spine register (5962 CDH, 3801 CFS, and 3131 DCM) and matched with the Swedish twin registry to identify MZ and DZ twins. Concordance rates were calculated.
Results: There were 64 twin pairs where one or both twins had surgical treatment for CDH. The corresponding numbers for surgically treated CFS and DCM were 37 twin pairs and 44 twin pairs respectively. For twins with CDH we found one concordant MZ pair and no concordant DZ pair (MZ probandwise concordance rate 0.12 [95% CI 0-0.33]). For twins with CFS we found one concordant MZ pair and no concordant DZ pair (MZ probandwise concordance rate 0.14 [95% CI 0-0.38]). In DCM patients we found no concordant twin pair.
Conclusions: In this national observational study, including 145 twin pairs, the concordance rates were low for surgically treated CDH, CFS, and DCM conditions. Our findings suggest that not only genetic factors, but also environmental factors and personal preferences are important whether a patient goes to surgery for this type of condition.
目的：遗传因素在退行性脊柱疾病的发展中被认为是重要的。本研究的目的是通过研究同卵双胞胎（MZ）和异卵双胞胎（DZ）来确定需要手术治疗的常见颈椎疾病颈椎间盘突出（CDH）、颈椎椎间孔狭窄（CFS）和退行性颈脊髓病（DCM）的双胞胎一致性率。方法：在1996年至2022年间，年龄18-85岁，因CDH、CFS或DCM手术的患者在瑞典国家脊柱登记（5962例CDH、3801例CFS和3131例DCM）中被确定，并与瑞典双胞胎登记相匹配，以确定MZ和DZ双胞胎。计算一致性率。结果：64对双胞胎中有一对或一对双胞胎接受了CDH手术治疗。手术治疗的CFS和DCM对应的数字分别为37对双胞胎和44对双胞胎。对于患有CDH的双胞胎，我们发现一个一致的MZ对，而没有一致的DZ对（MZ先验一致性率0.12 [95% CI 0-0.33]）。在患有CFS的双胞胎中，我们发现一个MZ对一致，而没有DZ对一致（MZ先验一致性率0.14 [95% CI 0-0.38]）。在DCM患者中，我们没有发现一致的双胞胎。结论：在这项包括145对双胞胎的全国性观察性研究中，手术治疗的CDH、CFS和DCM的符合率很低。我们的研究结果表明，不仅遗传因素，环境因素和个人偏好也很重要，患者是否会因为这种情况进行手术。
期刊介绍：
"European Spine Journal" is a publication founded in response to the increasing trend toward specialization in spinal surgery and spinal pathology in general. The Journal is devoted to all spine related disciplines, including functional and surgical anatomy of the spine, biomechanics and pathophysiology, diagnostic procedures, and neurology, surgery and outcomes. The aim of "European Spine Journal" is to support the further development of highly innovative spine treatments including but not restricted to surgery and to provide an integrated and balanced view of diagnostic, research and treatment procedures as well as outcomes that will enhance effective collaboration among specialists worldwide. The “European Spine Journal” also participates in education by means of videos, interactive meetings and the endorsement of educative efforts.
Official publication of EUROSPINE, The Spine Society of Europe
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