Department of Twin Research and Genetic Epidemiology, King's College London, St. Thomas' Hospital, London, UK Department of Ophthalmology and Epidemiology, University Medical Center Groningen, Groningen, The Netherlands Social, Genetic and Developmental Psychiatry Research Centre, Institute of Psychiatry, King's College London, London, UK Department of Ophthalmology, King's College London, St. Thomas' Hospital, London, UK Department of Rheumatology, King's College London, St. Thomas' Hospital, London, UK.
Pain. 2014 Aug;155(8):1562-1568. doi: 10.1016/j.pain.2014.05.002. Epub 2014 May 29.
Chronic pain syndromes (CPS) are highly prevalent in the general population, and increasingly the evidence points to a common etiological pathway. Using a large cohort of twins (n=8564) characterized for chronic widespread musculoskeletal pain (CWP), chronic pelvic pain (PP), migraine (MIG), dry eye disease, and irritable bowel syndrome (IBS), we explored the underlying genetic and environmental factors contributing to CPS and the correlation between them. The sample was predominantly female (87.3%), with a mean age of 54.7 (±14.7) years. Prevalence of the different CPS ranged from 7.4% (PP) to 15.7% (MIG). For all CPS the within-twin correlation in monozygotic twin pairs was higher than in dizygotic pairs, suggesting a heritable component. Estimated heritability ranged from 19% (IBS) to 46% (PP). Except for MIG, we found significant pairwise phenotypic correlations between the CPS. The phenotypic correlation was highest between CWP and IBS (0.40; 95% confidence interval: 0.27 to 0.46). Excluding MIG from further analyses, cross-twin cross-trait correlations were higher in monozygotic compared with dizygotic twin pairs, suggestive of shared genetic factors between CWP, PP, IBS, and dry eye disease. Twin modeling analysis revealed the common pathway model as the model best explaining the observed pattern of correlation between the traits, with an estimated heritability of 66% of the underlying latent variable. These results are evidence of shared genetic factors in conditions manifesting chronic pain and justify the search for underlying genetic variants.
慢性疼痛综合征（CPS）在普通人群中极为普遍，越来越多的证据表明存在共同的病因途径。我们使用了一个由具有慢性广泛性肌肉骨骼疼痛（CWP）、慢性盆腔疼痛（PP）、偏头痛（MIG）、干眼症和肠易激综合征（IBS）特征的双胞胎大队列（n=8564），探讨了导致 CPS 的潜在遗传和环境因素及其相关性。该样本主要为女性（87.3%），平均年龄为 54.7（±14.7）岁。不同 CPS 的患病率从 7.4%（PP）到 15.7%（MIG）不等。对于所有 CPS，同卵双胞胎的双胞胎内相关性高于异卵双胞胎，表明存在遗传成分。遗传度估计范围从 19%（IBS）到 46%（PP）。除了 MIG，我们发现 CPS 之间存在显著的两两表型相关性。CWP 和 IBS 之间的表型相关性最高（0.40；95%置信区间：0.27 至 0.46）。将 MIG 排除在进一步分析之外，同卵双胞胎之间的跨双胞胎交叉特征相关性高于异卵双胞胎，表明 CWP、PP、IBS 和干眼症之间存在共同的遗传因素。双胞胎模型分析显示，共同途径模型是解释所观察到的特征之间相关性模式的最佳模型，潜在的潜在变量的遗传度估计为 66%。这些结果证明了表现为慢性疼痛的病症中存在共同的遗传因素，并证明了寻找潜在遗传变异的合理性。
