Pagalilauan Alison M, Everest Elif, Rachimi Suzanna, Reich Daniel S, Waldman Alex D, Sadovnick A Dessa, Vilarino-Guell Carles, Lenardo Michael J
Molecular Development of the Immune System Section, Laboratory of Immune System Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.
Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.
Front Neurol. 2025 Mar 5;16:1509371. doi: 10.3389/fneur.2025.1509371. eCollection 2025.
Previous genetic and epidemiological studies have examined subpopulations from the Canadian Collaborative Project on Genetic Susceptibility to Multiple Sclerosis (CCPGSMS) patient cohort, but an encompassing analysis of the study population has not yet been carried out.
This retrospective study examines patterns of multiple sclerosis (MS) prevalence in 13,663 cohort members, including 4,821 persons with MS or suspected MS and 8,842 family members.
We grouped participants into epidemiologic subgroups based on age of MS onset, clinical stage at diagnosis, symptom type at disease onset, sex, proband status, disability as measured by the EDSS, and ancestry based on reported ethnicity.
We observed a 2.7:1 MS prevalence ratio of women to men, though disease severity was greater for male patients. Variation in the age of disease onset between patients was only slightly associated with sex and strongly associated with disease type. Specific types of clinical symptoms at disease onset were associated with the prognosis. Regional residence did not correlate with disease onset, type, or severity.
Population trends, as presented here, are not explained by environmental factors alone, highlighting the need for a comprehensive genetic analysis to understand disease variance across families.
先前的基因和流行病学研究已对加拿大多发性硬化症遗传易感性协作项目（CCPGSMS）患者队列中的亚人群进行了研究，但尚未对该研究人群进行全面分析。
这项回顾性研究调查了13663名队列成员中的多发性硬化症（MS）患病率模式，其中包括4821名患有MS或疑似患有MS的患者以及8842名家庭成员。
我们根据MS发病年龄、诊断时的临床分期、疾病发作时的症状类型、性别、先证者状态、通过扩展残疾状态量表（EDSS）测量的残疾程度以及根据报告的种族划分的血统，将参与者分为不同的流行病学亚组。
我们观察到女性与男性的MS患病率之比为2.7:1，尽管男性患者的疾病严重程度更高。患者之间疾病发病年龄的差异仅与性别略有相关，而与疾病类型密切相关。疾病发作时特定类型的临床症状与预后相关。地区居住情况与疾病发作、类型或严重程度无关。
此处呈现的人群趋势并非仅由环境因素所解释，这凸显了进行全面基因分析以了解家庭间疾病差异的必要性。
