Abstract
ObjectivesAutoimmune diseases (AID) follow a complex, probably polygenic, pattern of inheritance and often cluster in families of patients with multiple sclerosis (MS). Our objective was to analyze family patterns and characteristics in families including more than one patient with MS.Materials and MethodsWe analyzed personal and family history of neurological, systemic, and autoimmune diseases in 84 MS patients from 40 different families. Families were classified in two groups: families with cases of MS in at least two different generations (15 families) and families in which cases of MS belonged to only one generation (25 families).ResultsThe two previously established groups presented different clinical patterns and frequency of association with another AID. In one group, the second generation displayed a higher annual relapse rate than the first generation, higher frequency of progressive forms of MS, and more patients with another AID in addition to MS. Relapsing‐remitting forms of MS (RRMS) were more frequent in the other group.ConclusionsFamilies that include more than one MS patient may show two distinct patterns. This finding seems important for the compression and analysis of genetic information on MS.
Highlights
Autoimmune diseases (AID) result from an impaired immune system response, probably arising from an interaction between multiple genetic and environmental factors
multiple sclerosis (MS) is an autoimmune and probably polygenic disorder resulting from the interaction of multiple genetic and environmental factors (Villar- Quiles et al, 2016)
We classified all patients with familial MS and analyzed the copresence of other types of AID based on the hypothesis that they may share some genetic and environmental factors with MS
Summary
Autoimmune diseases (AID) result from an impaired immune system response, probably arising from an interaction between multiple genetic and environmental factors. AID follow a complex, probably polygenic, inheritance pattern; occurrence of these diseases in different families is heterogeneous. | 2 of 8 predetermined mechanisms combined with other genetic and/or environmental factors associated with each specific disease. Certain genetic factors are thought to confer a predisposition to specific diseases that may share pathophysiological mechanisms (Goris & Liston, 2012). Studying inheritance patterns in MS and other types of AID may improve our understanding of the interactions between genetic and environmental factors. The aim of our study was to analyze clinical profiles, inheritance patterns, and associations with another AID in families with more than one member affected by MS. This study complies with the ethical standards of the research committee at our center and the 1964 Declaration of Helsinki and its subsequent amendments
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