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Genetic basis for clinical expression in multiple sclerosis.

L F Barcellos, J R Oksenberg, A J Green

Brain : a Journal of Neurology

|February 9, 2002

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Genetic factors influence multiple sclerosis (MS) susceptibility. While early clinical manifestations show familial concordance, human leucocyte antigen (HLA)-DR2 does not appear to directly influence this concordance in MS.

Area of Science:

Neuroimmunology
Genetics of Neurological Disorders
Demyelinating Diseases

Background:

Multiple sclerosis (MS) is a heterogeneous demyelinating disease causing neurological disability.
Genetic susceptibility is known to play a role in MS etiology.
The influence of genetic factors on specific clinical features of MS remains unclear.

Purpose of the Study:

To investigate the role of genetic factors in determining clinical features of multiple sclerosis.
To examine the concordance of clinical variables within MS families.
To evaluate the effect of human leucocyte antigen (HLA)-DR2 on clinical outcomes.

Main Methods:

Studied 184 Caucasian MS families with multiple affected individuals.
Assessed clinical variables including age of onset, initial manifestations, and disease severity.

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Utilized intraclass correlation, Cohen's kappa, and regression models for genetic and clinical analyses, including HLA-DR2 association.

Main Results:

Significant familial concordance observed for early clinical manifestations (optic neuritis/spinal cord involvement).
Linkage and association to HLA-DR were detected, primarily in families with the DR2 haplotype.
No direct association found between HLA-DR2 and concordance of early clinical manifestations, despite DR2 association across subgroups.

Conclusions:

Familial concordance for early MS manifestations exists but is not solely explained by HLA-DR2.
The association of DR2 suggests a common susceptibility basis for MS.
Non-HLA genes or epigenetic factors likely modulate MS disease expression, with potential locus heterogeneity in DR2-negative patients.