Validation of the CD6 and TNFRSF1A loci as risk factors for multiple sclerosis in Spain.

Neurogenomiks Laboratory, University of the Basque Country (UPV/EHU), Leioa, Spain.
Journal of neuroimmunology (Impact Factor: 2.79). 06/2010; 223(1-2):100-3. DOI: 10.1016/j.jneuroim.2010.03.020
Source: PubMed

ABSTRACT A recent meta-analysis of genome-wide association screens coupled to a replication exercise in a combined US/UK collection led to the identification of 4 single nucleotide polymorphisms (SNPs) in three gene loci, i.e. TNFRSF1A, CD6 and IRF8, as novel risk factors for multiple sclerosis with genome-wide level of significance. In the present study, using a combined all-Spain collection of 2515 MS patients and 2942 healthy controls, we demonstrate significant association of rs17824933 in CD6 (P(CMH)=0.004; OR=1.14; 95% CI 1.04-1.24) and of rs1860545 in TNFRSF1A (P(CMH)=0.001; OR=1.15; 95% CI 1.06-1.25) with MS, while the low-frequency coding non-synonymous SNP rs4149584 in TNFRSF1A displayed a trend for association (P(CMH)=0.062; OR=1.27; 95% CI 0.99-1.63). This data reinforce a generic role for CD6 and TNFRSF1A in susceptibility to MS, extending to populations of southern European ancestry.

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Bhairavi Swaminathan