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Familial Risks between Pernicious Anemia and Other Autoimmune Diseases in the Population of Sweden

机译:瑞典人口恶性贫血与其他自身免疫性疾病之间的家族风险

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Background. Pernicious anemia (PA) is an autoimmune disease (AID) which is caused by lack of vitamin B12 (cobalamin) due to its impaired uptake. PA is a multifactorial disease which is associated with a number of other AID comorbidities and which is manifested as part of autoimmune polyglandular syndrome. Due to the shortage of family studies on PA, we planned to address the problem by assessing familial risks for concordant PA between family members and for discordant PA in families of other AID patients. Methods. We collected data on patients diagnosed with AIDs from the Swedish hospitals and family data from a population register. We calculated standardized incidence ratios (SIRs) in families for concordant and discordant risks. Results. The number of PA patients in the offspring generation (for which the familial risk was calculated) was 7701; 278 (3.6) patients had a family history of PA. The population prevalence of PA was 0.9/1000. The familial risk for PA was 3.88 when any first-degree relative was the proband, equal for men and women. The familial risk was two times higher between siblings than between offspring and parents which may be due to complex genetic background. Associations of PA with 14 discordant AIDs were significant; these included some AIDs that have previously been described as comorbidities in PA patients and several yet unreported associations, including rheumatoid arthritis and other AIDs. Conclusions. The familial risks for PA were high suggesting multifactorial genetic etiology. The results call for further population-level studies to unravel mechanisms of familial PA which may help to understand the etiology of this disease.
机译:背景。恶性贫血 (PA) 是一种自身免疫性疾病 (AID),由于维生素 B12(钴胺素)的摄取受损而缺乏维生素 B12。PA 是一种多因素疾病,与许多其他 AID 合并症相关,表现为自身免疫性多腺体综合征的一部分。由于缺乏关于 PA 的家族研究,我们计划通过评估家庭成员之间一致的 PA 和其他 AID 患者家庭中不一致的 PA 的家族风险来解决这个问题。方法。我们从瑞典医院收集了被诊断患有艾滋病的患者的数据,并从人口登记处收集了家庭数据。我们计算了家族中一致和不一致风险的标准化发病率(SIRs)。结果。后代(计算家族风险)的PA患者人数为7701人;278例(3.6%)患者有PA家族史。PA 的人口患病率为 0.9/1000。当任何一级亲属是先证者时,PA 的家族风险为 3.88,男性和女性相同。兄弟姐妹之间的家族风险是后代和父母之间的两倍,这可能是由于复杂的遗传背景。PA 与 14 种不一致的 AIDS 的关联显著;其中包括一些以前被描述为 PA 患者合并症的 AID,以及一些尚未报道的关联,包括类风湿性关节炎和其他 AID。结论。PA的家族风险很高,提示多因素遗传病因。这些结果要求进一步的人群水平研究,以揭示家族性PA的机制,这可能有助于了解这种疾病的病因。

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