title: Evaluation of germline sequence variants within the promoter region of RANTES gene in a cohort of women with endometriosis from Spain.
abstract: The RANTES (regulated upon activation normal T cells expressed and secreted) chemokine, is known to be expressed in endometriotic lesions in a concentration correlating with the severity of endometriosis. Since it has been widely demonstrated that endometriosis has a genetic basis, we postulated that the gene encoding RANTES could be a good candidate gene for the disease. We have used fluorescence resonance energy transfer (FRET) technology to genotype and evaluate the role of the variants -403G-->A and -28C-->G, located within the promoter region of the gene, as susceptibility factors in a cohort of Spanish women with endometriosis. No differences have been found in the allelic frequencies of both variants nor in the haplotype/ genotype distribution between patients and controls. These data are consistent with the lack of association between these polymorphisms and endometriosis in our population. They do not exclude completely a possible role of other variants within RANTES gene in this pathology.
authors.affiliation: Unidad de Genética Médica y Diagnóstico Prenatal, Hospitales Universitarios Virgen del Rocío, Avda. Manuel Siurot s/n. 41013, Seville, Spain. guillermo.antinolo.sspa@juntadeandalucia.es
authors.forename: G
authors.initials: G
authors.lastname: Antiñolo
authors.forename: R M
authors.initials: RM
authors.lastname: Fernández
authors.forename: J A
authors.initials: JA
authors.lastname: Noval
authors.forename: J C
authors.initials: JC
authors.lastname: García-Lozano
authors.forename: S
authors.initials: S
authors.lastname: Borrego
authors.forename: I
authors.initials: I
authors.lastname: Marcos
authors.forename: J L
authors.initials: JL
authors.lastname: Moliní
mesh_terms: D000328:Adult; D001483:Base Sequence; D018946:Chemokine CCL5 / Q000235:genetics*; D015331:Cohort Studies; D004715:Endometriosis / Q000235:genetics* / Q000276:immunology; D005260:Female; D031541:Fluorescence Resonance Energy Transfer; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D017354:Point Mutation; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D013030:Spain
chemical_list: D018946:Chemokine CCL5