Congenital Abnormalities and Multiple Sclerosis

Sreeram V Ramagopalan,Maria Criscuoli,Sarah-Michelle Orton,George C Ebers,David A Dyment,Colleen Guimond,Irene M Yee,Dessa Sadovnick

doi:10.1186/1471-2377-10-115

Abstract

BackgroundThere is a strong maternal parent-of-origin effect in determining susceptibility to multiple sclerosis (MS). One hypothesis is that an abnormal intrauterine milieu leading to impaired fetal development could plausibly also result in increased susceptibility to MS. A possible marker for this intrauterine insult is the presence of a non-fatal congenital anomaly.MethodsWe investigated whether or not congenital anomalies are associated with MS in a population-based cohort. We identified 7063 MS index cases and 2655 spousal controls with congenital anomaly information from the Canadian Collaborative Project on Genetic Susceptibility to MS (CCPGSMS).ResultsThe frequency of congential anomalies were compared between index cases and controls. No significant differences were found.ConclusionsCongenital anomalies thus do not appear to be associated with MS. However, we did not have complete data on types and severity of congenital anomalies or on maternal birth history and thus this study should be regarded as preliminary.

Highlights

There is a strong maternal parent-of-origin effect in determining susceptibility to multiple sclerosis (MS)
Maternal information on congenital anomalies could be collected for 7063 MS index cases and 2655 spousal controls
As there is a preponderance of females with MS [8], there is by definition a corresponding over-representation of male spousal controls

Summary

Introduction

There is a strong maternal parent-of-origin effect in determining susceptibility to multiple sclerosis (MS). One hypothesis is that an abnormal intrauterine milieu leading to impaired fetal development could plausibly result in increased susceptibility to MS. Multiple sclerosis (MS) is an inflammatory disease of the central nervous system (CNS) characterized by myelin loss, varying degrees of axonal pathology and progressive neurological dysfunction [1]. A maternal parentof-origin effect in MS [3,4] has been well demonstrated but the biological basis underlying this remains unknown [5]. A congenital anomaly is an abnormality of structure, function or body metabolism that is present at birth and results in physical or mental disability, with varying degrees of severity [7].

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