Single-nucleotide polymorphism rs948854 in human galanin gene and multiple sclerosis: a gender-specific risk factor.

We performed comparative analyses of the genotype distribution and allelic frequencies of the rs948854 polymorphism (G/A) in the galanin gene's promoter in patients with multiple sclerosis (MS) and in healthy matched controls. In total 111 patients and 115 control subjects were included. The analyses revealed that the presence of the minor allele (G) increased susceptibility to MS in men (OR = 2.49, P = 0.008) but not in women. The presence of the G allele in men was also significantly associated with the late onset of MS. Furthermore, rs948854 polymorphism affected the rate of MS progression depending on the sex of the patients. In woman (typically slowly progressing), the percentage of patients with the slow (<0.5 EDSS score per year) progression rate was significantly reduced (χ2  = 5.7, P = 0.017) in the minor allele carriers group (52.6%), in comparison with the wild-type carriers (83.9%). In men (typically quickly progressing), the number of patients with fast progression rate (≥0.75 EDSS score per year) tended to increase in the minor allele carriers group (50%) compared with number of patients with the wild-type carriers (31.3%). These data demonstrate for the first time an association between rs948854 polymorphism and multiple sclerosis and, further, that this association is sex specific. They also point to diagnostic and prognostic benefits of genetic screening of patients with multiple sclerosis.