title: Genotypic distribution of common variants of endosomal toll like receptors in healthy Spanish women. A comparative study with other populations.
abstract: Genetic variants of endosomal toll like receptors (TLR) have been associated with many infectious, autoimmune and inflammatory diseases, but few studies have been reported in the Spanish population. The aim of this study was to describe the allelic and genotypic distributions of some common nucleotide substitutions of endosomal TLRs in healthy Spanish women and to compare them with those already published in other population groups. Nine substitutions were analysed in 150 DNA samples from 150 Spanish, non-related healthy females: TLR3 rs3775291 and rs5743305; TLR7 rs179008 and rs5743781; TLR8 rs3764880 and TLR9 rs187084, rs5743836, rs352139 and rs352140. Genotyping was carried out by real time PCR and melting curve analysis in a LightCycler 480. A systematic review was performed in order to compare the genotypic distributions in our cohort with those previously published in other population groups. The comparative study was performed with the two tailed Fisher's test or the Yates continuity correction for the Chi-square test when appropriate. No homozygotes for rs5743781 in TLR7 were found, and rs352139 and rs352140 of TLR9 were in strong linkage disequilibrium. Genotype distributions in endosomal TLR are similar to other Spanish series previously reported. As expected, most differences were found when comparing our distributions with Asiatics, but differences were also found with other Caucasian populations. Since there are significant variations in genotypic distributions of TLRs in both interracial groups and within the same ethnic group, to carry out studies of disease susceptibility in more restricted groups is mandatory.
authors.affiliation: Servicio de Medicina Interna, Hospital Universitario Puerta de Hierro Majadahonda, Spain. Electronic address: elenamartinez_robles@hotmail.com.
authors.forename: Elena
authors.initials: E
authors.lastname: Martínez-Robles
authors.affiliation: Servicio de Medicina Interna, Hospital Universitario Puerta de Hierro Majadahonda, Spain.
authors.forename: Miguel
authors.initials: M
authors.lastname: Yebra-Bango
authors.affiliation: Servicio de Medicina Interna, Hospital Universitario Puerta de Hierro Majadahonda, Spain.
authors.forename: Susana
authors.initials: S
authors.lastname: Mellor-Pita
authors.affiliation: Servicio de Medicina Interna, Hospital Universitario Puerta de Hierro Majadahonda, Spain.
authors.forename: Pablo
authors.initials: P
authors.lastname: Tutor-Ureta
authors.affiliation: Servicio de Medicina Interna, Hospital Universitario Puerta de Hierro Majadahonda, Spain.
authors.forename: Juan A
authors.initials: JA
authors.lastname: Vargas
authors.affiliation: Servicio de Medicina Interna, Hospital Universitario Puerta de Hierro Majadahonda, Spain; Instituto de Investigación del Hospital Universitario Puerta de Hierro Majadahonda (IDIPHIM), Spain.
authors.forename: Maria J
authors.initials: MJ
authors.lastname: Citores
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics*; D005260:Female; D064368:Healthy Volunteers; D006801:Humans; D013030:Spain; D051196:Toll-Like Receptor 3 / Q000235:genetics; D051199:Toll-Like Receptor 7 / Q000235:genetics; D051200:Toll-Like Receptor 8 / Q000235:genetics; D051217:Toll-Like Receptor 9 / Q000235:genetics; D051193:Toll-Like Receptors / Q000235:genetics*; D044465:White People / Q000235:genetics*; D055815:Young Adult
chemical_list: C495344:TLR3 protein, human; C495348:TLR7 protein, human; C495349:TLR8 protein, human; C495371:TLR9 protein, human; D051196:Toll-Like Receptor 3; D051199:Toll-Like Receptor 7; D051200:Toll-Like Receptor 8; D051217:Toll-Like Receptor 9; D051193:Toll-Like Receptors
keywords: Genotypic distribution; Healthy Spanish women; Single nucleotide substitution; Toll-like receptors