Analysis of the C/T−1 single nucleotide polymorphism in the CD40 gene in multiple sclerosis

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Abstract
The costimulatory CD40–CD40L pathway plays a critical role in the generation and maintenance of adaptive immune responses. Genetic interference of CD40–CD40L interactions strongly influences the onset and course in many autoimmune disease models including experimental autoimmune encephalomyelitis. We analysed the association of a single nucleotide polymorphism of the CD40 gene (C/T−1) in 287 patients with multiple sclerosis (MS) and 184 matched controls. No significant differences were found in the frequency of the C/T−1 polymorphism between the patients with MS and the controls (53% vs 49%) or among different MS subtypes. Cell surface expression of CD40 did not differ within the different genotypes, but carriers of the T allele showed a trend for a lower stimulatory index compared with individuals with the CC genotype. Although these subtle differences indicate functional consequences in the immune stimulatory capabilities related to the CD40 C/T−1 polymorphism, our population‐based study found no association with disease susceptibility or disease course in MS.