Division of Molecular Genetic Epidemiology, German Cancer Research Centre (DKFZ), Heidelberg, Germany.
Center for Primary Health Care Research, Lund University, Malmö, Sweden.
PLoS One. 2020 Oct 20;15(10):e0240794. doi: 10.1371/journal.pone.0240794. eCollection 2020.
Autoimmune hepatitis (AH) and primary biliary cirrhosis (PBC) are autoimmune diseases (AIDs) targeting cellular components of the liver. Being rare diseases, limited data are available about familial risks among these AIDs (concordant) or between them and other AIDs (discordant). We aimed to carry out an unbiased study on these AIDs based on medically diagnosed patients. We collected data on patients diagnosed in Swedish hospitals with AH, PBC and other AIDs and calculated familial standardized incidence ratios (SIRs) for concordant and discordant familial relative risks. The number of AH patients was 6,269, of whom 43.0% were male; patient numbers for PBC were 4,269, with 17.8% males. AH accounted for 0.8% and 0.6% of all hospitalized AIDs in Sweden. For AH only the familial risk between siblings was significant (3.83). For PBC the risks for offspring of parents (9.05) and siblings (10.88) were high, but only risk for females was significant. Spousal risks were very high, 5.91 and 6.07 for AH. Risk for AH was 2.21 in families of PBC, and it was 2.47 for PBC in families of AH patients. Among other AIDs, 14 showed a significant association with AH, compared to 16 AIDs with PBC. The surprising finding in this nation-wide family study on medically diagnosed patients was the high risk for AH (6.0) between spouses, which exceed the risk between siblings, suggesting the existence of strong environmental risk factors. AH and PBC were associated with multiple other AIDs. The results call attention to environmental factors in AID etiology which should also be in focus in taking anamnestic data from patients.
自身免疫性肝炎 (AIH) 和原发性胆汁性肝硬化 (PBC) 是针对肝脏细胞成分的自身免疫性疾病 (AIDs)。由于这些疾病较为罕见，因此有关这些 AIDs（一致性）或它们与其他 AIDs（不一致性）之间的家族风险的数据有限。我们旨在对基于医学诊断的患者进行这些 AIDs 的无偏研究。我们收集了在瑞典医院诊断为 AIH、PBC 和其他 AIDs 的患者的数据，并计算了一致性和不一致性家族相对风险的家族标准化发病比 (SIR)。AIH 患者的数量为 6269 人，其中 43.0%为男性；PBC 患者的数量为 4269 人，其中 17.8%为男性。AIH 占瑞典所有住院 AIDs 的 0.8%，PBC 占 0.6%。仅 AIH 中兄弟姐妹之间的家族风险具有统计学意义 (3.83)。对于 PBC，父母 (9.05) 和兄弟姐妹 (10.88) 的后代风险较高，但只有女性的风险具有统计学意义。配偶的风险非常高，AIH 为 5.91，PBC 为 6.07。PBC 患者的家族中 AIH 的风险为 2.21，而 AIH 患者的家族中 PBC 的风险为 2.47。在其他 AIDs 中，与 PBC 相比，有 14 种与 AIH 显著相关。在这项针对医学诊断患者的全国性家族研究中，令人惊讶的发现是配偶之间 AIH 的风险很高（6.0），超过了兄弟姐妹之间的风险，这表明存在强烈的环境风险因素。AIH 和 PBC 与多种其他 AIDs 相关。这些结果引起了人们对 AID 病因学中环境因素的关注，这也应该成为关注患者病史数据的焦点。
