Lund University, Faculty of Medicine, Department of Clinical Sciences Lund, Orthopaedics, Clinical Epidemiology Unit, Remissgatan 4, 221 85 Lund, Sweden; Norwegian Institute of Public Health, Cluster for Health Services Research, Sandakerveien 24C, 0473 Oslo, Norway.
Lund University, Faculty of Medicine, Department of Clinical Sciences Lund, Orthopaedics, Clinical Epidemiology Unit, Remissgatan 4, 221 85 Lund, Sweden.
Osteoarthritis Cartilage. 2022 Oct;30(10):1385-1389. doi: 10.1016/j.joca.2022.06.011. Epub 2022 Jul 14.
To estimate the genetic contribution to doctor-diagnosed hand osteoarthritis (OA).
Using data from the Swedish Twin Registry and National Patient Register, we conducted a 20-year population-based longitudinal cohort study including 59,970 twins aged 35 years or older. We studied inpatient and outpatient doctor-diagnosed hand OA using ICD-10 codes from 1997 until 2016, including both the distal/proximal interphalangeal (DIP/PIP) joints and/or the first carpometacarpal (CMC-1) joints. We calculated intra-pair correlation, estimated the heritability (i.e., the percentage variation in hand OA that can be explained by genetic factors) as well as a genetic risk.
Among 59,970 included persons, 936 had a hand OA diagnosis registered during the study period. The heritabilities of hand OA (any joint), CMC-1 OA and DIP/PIP OA were ∼87%, 86% and 48%, respectively, yet the two latter should be interpreted with care due to low numbers. Hand OA in any joint in both twins in a pair occurred more frequently in identical twins (54/554 = 9.7%, intra-pair correlation = 0.54, 95% CI = 0.44-0.63) than in fraternal twins (18/1,246 = 1.4%, intra-pair correlation = 0.10, 95% CI = -0.01-0.22). Identical twins who were diagnosed with hand OA in any joint had a far higher risk than fraternal twins with hand OA to also have their co-twin diagnosed with hand OA in any joint (Hazard Ratio = 6.98, 95% CI = 3.08-15.45).
The genetic contribution to hand OA is high and likely varying between 48% and 87%. Potential differential heritability by hand OA phenotypes should be further explored.
评估医生诊断的手部骨关节炎（OA）的遗传贡献。
使用来自瑞典双胞胎登记处和国家患者登记处的数据，我们进行了一项基于人群的 20 年纵向队列研究，包括 59970 名年龄在 35 岁或以上的双胞胎。我们使用 ICD-10 从 1997 年至 2016 年的代码研究了门诊和住院医生诊断的手部 OA，包括远端/近端指间关节（DIP/PIP）和/或第一腕掌关节（CMC-1）关节。我们计算了同卵双胞胎之间的相关性，估计了手部 OA 的遗传性（即手部 OA 的可由遗传因素解释的变异百分比）以及遗传风险。
在 59970 名纳入的人群中，936 人在研究期间被诊断为手部 OA。手部 OA（任何关节）、CMC-1 OA 和 DIP/PIP OA 的遗传性分别约为 87%、86%和 48%，但鉴于数量较低，后两者应谨慎解释。同一对双胞胎中手部 OA （任何关节）的发生率高于异卵双胞胎（54/554=9.7%，同卵双胞胎之间的相关性=0.54，95%CI=0.44-0.63）。任何关节均被诊断为手部 OA 的同卵双胞胎的风险远高于任何关节均被诊断为手部 OA 的异卵双胞胎的风险，因此其同胞也被诊断为任何关节的手部 OA（风险比=6.98，95%CI=3.08-15.45）。
手部 OA 的遗传贡献很高，可能在 48%到 87%之间变化。手部 OA 表型的潜在差异遗传应进一步探讨。
