Centre for Behavioural Sciences and Mental Health, Istituto Superiore di Sanità (Italian National Institute of Health), 00161 Rome, Italy.
Fondazione ISAL-Institute for Research on Pain, 47921 Rimini, Italy.
Medicina (Kaunas). 2022 Oct 26;58(11):1522. doi: 10.3390/medicina58111522.
: Non-cancer chronic pain (CP) results from the interaction between genetic and environmental factors. Twin studies help to estimate genetic and environmental contributions to complex traits such as CP. To date, twin studies on the heritability of pain phenotypes have relied almost exclusively on specific diagnoses, neglecting pain intensity. This study aims to estimate the genetic and environmental contributions to CP occurrence as a wide phenotype and its intensity among a non-clinical population. : A nationwide online survey was conducted in February 2020 on 6000 adult twins enrolled in the Italian Twin Registry. A five-item questionnaire, designed and validated by our study group, was administered to detect the CP condition along with its intensity, underlying causes or triggers, treatments, and self-perceived efficacy. The twin study design was used to infer the relative weight of genes and environment on CP occurrence and intensity, and biometrical modelling was applied to these phenotypes. : A total of 3258 twins, aged ≥18, replied to the online survey (response rate 54%). These included 762 intact pairs (mean age: 39 years; age range: 18-82 years; 34% male; CP prevalence: 24%), of whom 750 pairs were subjected to biometrical modelling after the exclusion of pairs with either unknown zygosity or cancer-associated CP. Broad-sense heritability estimates were driven by non-additive genetic effects and were 0.36 (0.19-0.51) for CP occurrence and 0.31 (0.16-0.44) for CP intensity. No evidence emerged for either sex differences in genetic and environmental variance components or interactions of these components with age. : Moderate non-additive genetic components were suggested for non-cancer CP occurrence and its intensity. These results encourage further research on the gene-gene interactions underlying CP liability and associated phenotypes, and also strengthen the need for prevention strategies to avoid CP occurrence or to decrease pain intensity.
非癌症慢性疼痛（CP）是由遗传和环境因素相互作用引起的。双胞胎研究有助于估计 CP 等复杂特征的遗传和环境贡献。迄今为止，关于疼痛表型遗传力的双胞胎研究几乎完全依赖于特定的诊断，而忽略了疼痛强度。本研究旨在估计非临床人群中 CP 发生及其强度的广泛表型的遗传和环境贡献。
2020 年 2 月，在意大利双胞胎登记处招募的 6000 名成年双胞胎中进行了一项全国性的在线调查。我们的研究小组设计并验证了一个包含五个项目的问卷，用于检测 CP 状况及其强度、潜在原因或诱因、治疗方法和自我感知疗效。采用双胞胎研究设计来推断 CP 发生和强度的基因和环境相对权重，并对这些表型进行生物测量建模。
共有 3258 名年龄≥18 岁的双胞胎回答了在线调查（回复率为 54%）。其中包括 762 对完整双胞胎（平均年龄：39 岁；年龄范围：18-82 岁；34%为男性；CP 患病率：24%），其中 750 对在排除了那些要么未知的同卵性或与癌症相关的 CP 的双胞胎后，进行了生物测量建模。广义遗传力估计值由非加性遗传效应驱动，CP 发生的遗传力为 0.36（0.19-0.51），CP 强度的遗传力为 0.31（0.16-0.44）。没有证据表明遗传和环境方差分量或这些分量与年龄的相互作用存在性别差异。
非癌症 CP 发生及其强度存在中等程度的非加性遗传成分。这些结果鼓励进一步研究 CP 易感性和相关表型的基因-基因相互作用，也加强了预防策略的必要性，以避免 CP 的发生或降低疼痛强度。
