Gnavi Roberto, Barizzone Nadia, Picariello Roberta, Alboini Paolo Emilio, Pomella Nicola, Thavamani Muralidharan, Tosi Martina, Visha Endri, Ciampana Valentina, Vecchio Domizia, Cavalla Paola, Leone Maurizio, D'Alfonso Sandra
Servizio Sovrazonale di Epidemiologia ASL TO3, Regione Piemonte, Collegno (TO), Italy.
Department of Health Sciences, University of Eastern Piedmont, Novara, Italy.
Mult Scler J Exp Transl Clin. 2025 Jul 3;11(3):20552173251349671. doi: 10.1177/20552173251349671. eCollection 2025 Jul-Sep.
Comorbidities are a critical concern for clinicians in both the treatment and diagnosis of multiple sclerosis. Autoimmune diseases, including multiple sclerosis, often co-occur within individuals. However, most studies examining the incidence or prevalence of autoimmune diseases in persons with multiple sclerosis compared to healthy controls have used relatively small sample sets, with only a few being population-based.
To analyze the co-occurrence of other autoimmune diseases in persons with multiple sclerosis and determine whether common genetic susceptibility factors contribute to the co-occurrence of autoimmune diseases.
We conducted a population-based study using administrative health records to include all residents of Piedmont, an Italian Region with about 4.3 million inhabitants, identifying individuals with multiple sclerosis and 14 other autoimmune diseases. For a subset of persons with multiple sclerosis with available genome-wide genotyping data, we investigated the influence of their genetic backgrounds using a polygenic risk score.
The prevalence of all 14 tested autoimmune diseases was higher in persons with multiple sclerosis compared to those without multiple sclerosis. Furthermore, persons with multiple sclerosis with autoimmune disease comorbidities had a higher polygenic risk score compared to persons with multiple sclerosis without comorbidities.
Our findings confirm the co-occurrence of multiple sclerosis with several autoimmune diseases, and suggest that shared genetic susceptibility factors may influence this association.
合并症是临床医生在多发性硬化症治疗和诊断中的关键关注点。自身免疫性疾病,包括多发性硬化症,常于个体内共同出现。然而,大多数比较多发性硬化症患者与健康对照者自身免疫性疾病发病率或患病率的研究使用的样本量相对较小,只有少数是以人群为基础的。
分析多发性硬化症患者中其他自身免疫性疾病的共同出现情况,并确定常见的遗传易感性因素是否导致自身免疫性疾病的共同出现。
我们利用行政健康记录进行了一项基于人群的研究,纳入了意大利皮埃蒙特地区约430万居民中的所有居民,识别出患有多发性硬化症和其他14种自身免疫性疾病的个体。对于一部分有多发性硬化症且有全基因组基因分型数据的患者,我们使用多基因风险评分研究了其遗传背景的影响。
与没有多发性硬化症的人相比,患有多发性硬化症的人所检测的所有14种自身免疫性疾病的患病率更高。此外,与没有合并症的多发性硬化症患者相比,患有自身免疫性疾病合并症的多发性硬化症患者的多基因风险评分更高。
我们的研究结果证实了多发性硬化症与几种自身免疫性疾病的共同出现,并表明共同的遗传易感性因素可能影响这种关联。