title: A Taqman assay for high-throughput genotyping of the multiple sclerosis-associated HLA-DRB1*1501 allele.
abstract: The human leukocyte antigen (HLA)-DRB1*1501 allele has long been established as the main genetic risk factor for multiple sclerosis (MS), and it therefore follows that stratification of study populations for this allele could aid in the identification of novel susceptibility genes and/or in establishing interactions. To this end, we have developed a simple Taqman-based assay allowing cost-efficient medium-throughput HLA-DRB1*1501 genotyping. We have validated this assay in 444 trio families with MS and 1066 individuals from the UK 1958 birth cohort (3908 independent chromosomes). In this validation cohort, the correlation coefficient (r(2)) between rs3135388*A and HLA-DRB1*1501 was >0.94. Subsequently, applying the assay to a group of MS patients and controls from Belgium confirmed the association of HLA-DRB1*1501 and MS in this population (P = 5 x 10(-21)).
authors.affiliation: Laboratory of Neuroimmunology, Section of Experimental Neurology, Katholieke Universiteit Leuven, Leuven, Belgium. an.goris@med.kuleuven.be
authors.forename: A
authors.initials: A
authors.lastname: Goris
authors.forename: A
authors.initials: A
authors.lastname: Walton
authors.forename: M
authors.initials: M
authors.lastname: Ban
authors.forename: B
authors.initials: B
authors.lastname: Dubois
authors.forename: A
authors.initials: A
authors.lastname: Compston
authors.forename: S
authors.initials: S
authors.lastname: Sawcer
mesh_terms: D000483:Alleles; D015331:Cohort Studies; D005787:Gene Frequency / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006684:HLA-DR Antigens / Q000235:genetics*; D059811:HLA-DRB1 Chains; D006801:Humans; D009103:Multiple Sclerosis / Q000235:genetics*; D012680:Sensitivity and Specificity; D017422:Sequence Analysis, DNA / Q000379:methods*
chemical_list: D006684:HLA-DR Antigens; D059811:HLA-DRB1 Chains; C489631:HLA-DRB1*15:01 antigen