title: SELPLG and SELP single-nucleotide polymorphisms in multiple sclerosis.
abstract: P-Selectin (SELP) and P-selectin glycoprotein ligand-1 (SELPLG) constitute a receptor/ligand complex involved in the recruitment of activated lymphocytes, a critical event in the pathogenesis of multiple sclerosis (MS). In order to determine whether genetic variation in these pivotal molecules influences susceptibility to MS, we genotyped 214 Italian patients compared with 220 Italian controls for three single-nucleotide polymorphisms (SNPs): SELPLG Met62Ile, SELP C-2123G and SELP Thr715Pro. No significant differences in both SELP SNPs were found between patients and controls, whereas a decreased frequency of the Met62Ile SNP was found in patients versus controls in the Italian population (P = 0.025). To confirm these preliminary findings, the Met62Ile SNP was analysed in 938 UK trio families. This SNP did not show evidence for association with susceptibility to MS in the larger UK cohort. Therefore, none of the SNPs investigated is associated with MS, although this analysis does not conclusively exclude SELPLG and SELP as genetic risk factors for MS as much variation remains untested.
authors.affiliation: Department of Neurological Sciences, Dino Ferrari Center, University of Milan, IRCCS Ospedale Maggiore Policlinico, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Fenoglio
authors.forename: Daniela
authors.initials: D
authors.lastname: Galimberti
authors.forename: Maria
authors.initials: M
authors.lastname: Ban
authors.forename: Mel
authors.initials: M
authors.lastname: Maranian
authors.forename: Diego
authors.initials: D
authors.lastname: Scalabrini
authors.forename: Eliana
authors.initials: E
authors.lastname: Venturelli
authors.forename: Laura
authors.initials: L
authors.lastname: Piccio
authors.forename: Milena
authors.initials: M
authors.lastname: De Riz
authors.forename: Tai Wai
authors.initials: TW
authors.lastname: Yeo
authors.forename: An
authors.initials: A
authors.lastname: Goris
authors.forename: Julia
authors.initials: J
authors.lastname: Gray
authors.forename: Nereo
authors.initials: N
authors.lastname: Bresolin
authors.forename: Elio
authors.initials: E
authors.lastname: Scarpini
authors.forename: Alastair
authors.initials: A
authors.lastname: Compston
authors.forename: Stephen
authors.initials: S
authors.lastname: Sawcer
mesh_terms: D000328:Adult; D000368:Aged; D015152:Blotting, Northern; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000235:genetics*; D019007:P-Selectin / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: D008562:Membrane Glycoproteins; D019007:P-Selectin; C084882:P-selectin ligand protein