title: Prolactin and prolactin receptor gene polymorphisms in multiple sclerosis and systemic lupus erythematosus.
abstract: Genes encoding for prolactin (PRL) and its receptor (PRLR) are possible candidates for multiple sclerosis (MS) and systemic lupus erythematosus (SLE) susceptibility. In fact: (1) a prolactin secretion dysfunction has been described in several autoimmune diseases including SLE and MS and their animal models; (2) both PRL and PRLR are structurally related to members of the cytokine/hematopoietin family and have a role in the regulation of the immune response; and (3) both PRL and PRLR genes map in genomic regions that showed linkage with autoimmunity. Prolactin maps on chromosome 6p, about 11-kb telomeric to HLA-DRB1 and PRLR in 5p12-13, which revealed evidence of linkage with MS in different populations. To evaluate a possible role of these two genes in SLE and MS we performed an association study of 19 PRL and PRLR single nucleotide polymorphisms (SNPs). These were directly searched by DHPLC in a panel of SLE and MS patients and selected from databases and the literature. The SNP allele frequencies were determined on patient and control DNA pools by primer-extension genotyping and HPLC analysis. Moreover a panel of HLA typed SLE and control individuals were individually genotyped for the PRL G-1149T polymorphism previously described to be associated with SLE. No statistically significant difference in the allele distribution was observed for any of the tested variations.
authors.affiliation: Laboratorio di Genetica Umana, Dipartimento Scienze Mediche and I.R.C.A.D., Università del Piemonte Orientale, Novara, Italy.
authors.forename: Marta
authors.initials: M
authors.lastname: Mellai
authors.forename: Mara
authors.initials: M
authors.lastname: Giordano
authors.forename: Sandra
authors.initials: S
authors.lastname: D'Alfonso
authors.forename: Maurizio
authors.initials: M
authors.lastname: Marchini
authors.forename: Raffaella
authors.initials: R
authors.lastname: Scorza
authors.forename: M
authors.initials: M.G.
authors.lastname: Danieli
authors.forename: Maurizio
authors.initials: M
authors.lastname: Leone
authors.forename: Isabella
authors.initials: I
authors.lastname: Ferro
authors.forename: Maria
authors.initials: M
authors.lastname: Liguori
authors.forename: Maria
authors.initials: M
authors.lastname: Trojano
authors.forename: Clara
authors.initials: C
authors.lastname: Ballerini
authors.forename: Luca
authors.initials: L
authors.lastname: Massacesi
authors.forename: Stefania
authors.initials: S
authors.lastname: Cannoni
authors.forename: Roberto
authors.initials: R
authors.lastname: Bomprezzi
authors.forename: Patricia
authors.initials: P
authors.lastname: Momigliano-Richiardi
mesh_terms: D020121:5' Untranslated Regions / Q000235:genetics; D000483:Alleles; D019943:Amino Acid Substitution; D001327:Autoimmune Diseases / Q000453:epidemiology / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007438:Introns / Q000235:genetics; D007558:Italy / Q000453:epidemiology; D008180:Lupus Erythematosus, Systemic / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D009103:Multiple Sclerosis / Q000453:epidemiology / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D011388:Prolactin / Q000235:genetics*; D011981:Receptors, Prolactin / Q000235:genetics*
chemical_list: D020121:5' Untranslated Regions; D011981:Receptors, Prolactin; D011388:Prolactin