Association of systemic lupus erythematosus clinical features with European population genetic substructure.
Systemic Lupus Erythematosus (SLE) is an autoimmune disease with a very varied spectrum of clinical manifestations that could be partly determined by genetic factors. We aimed to determine the relationship between prevalence of 11 clinical features and age of disease onset with European population g...
Guardado en:
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Public Library of Science (PLoS)
2011
|
| Materias: | |
| Acceso en línea: | https://doaj.org/article/34af34c09cf743f4a1a00c4906574f32 |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
| id |
oai:doaj.org-article:34af34c09cf743f4a1a00c4906574f32 |
|---|---|
| record_format |
dspace |
| spelling |
oai:doaj.org-article:34af34c09cf743f4a1a00c4906574f322021-11-18T07:32:07ZAssociation of systemic lupus erythematosus clinical features with European population genetic substructure.1932-620310.1371/journal.pone.0029033https://doaj.org/article/34af34c09cf743f4a1a00c4906574f322011-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22194982/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203Systemic Lupus Erythematosus (SLE) is an autoimmune disease with a very varied spectrum of clinical manifestations that could be partly determined by genetic factors. We aimed to determine the relationship between prevalence of 11 clinical features and age of disease onset with European population genetic substructure. Data from 1413 patients of European ancestry recruited in nine countries was tested for association with genotypes of top ancestry informative markers. This analysis was done with logistic regression between phenotypes and genotypes or principal components extracted from them. We used a genetic additive model and adjusted for gender and disease duration. Three clinical features showed association with ancestry informative markers: autoantibody production defined as immunologic disorder (P = 6.8×10(-4)), oral ulcers (P = 6.9×10(-4)) and photosensitivity (P = 0.002). Immunologic disorder was associated with genotypes more common in Southern European ancestries, whereas the opposite trend was observed for photosensitivity. Oral ulcers were specifically more common in patients of Spanish and Portuguese self-reported ancestry. These results should be taken into account in future research and suggest new hypotheses and possible underlying mechanisms to be investigated. A first hypothesis linking photosensitivity with variation in skin pigmentation is suggested.Elisa Alonso-PerezMarian Suarez-GestalManuel CalazaTorsten WitteChryssa PapasteriadesMaurizio MarchiniSergio MigliaresiAttila KovacsJosep Ordi-RosMarc BijlMaria Jose SantosSarka RuzickovaRudolf PullmannPatricia CarreiraFotini N SkopouliSandra D'AlfonsoGian Domenico SebastianiAna SuarezFrancisco J BlancoJuan J Gomez-ReinoAntonio GonzalezEuropean Consortium of SLE DNA CollectionsPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 6, Iss 12, p e29033 (2011) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Medicine R Science Q |
| spellingShingle |
Medicine R Science Q Elisa Alonso-Perez Marian Suarez-Gestal Manuel Calaza Torsten Witte Chryssa Papasteriades Maurizio Marchini Sergio Migliaresi Attila Kovacs Josep Ordi-Ros Marc Bijl Maria Jose Santos Sarka Ruzickova Rudolf Pullmann Patricia Carreira Fotini N Skopouli Sandra D'Alfonso Gian Domenico Sebastiani Ana Suarez Francisco J Blanco Juan J Gomez-Reino Antonio Gonzalez European Consortium of SLE DNA Collections Association of systemic lupus erythematosus clinical features with European population genetic substructure. |
| description |
Systemic Lupus Erythematosus (SLE) is an autoimmune disease with a very varied spectrum of clinical manifestations that could be partly determined by genetic factors. We aimed to determine the relationship between prevalence of 11 clinical features and age of disease onset with European population genetic substructure. Data from 1413 patients of European ancestry recruited in nine countries was tested for association with genotypes of top ancestry informative markers. This analysis was done with logistic regression between phenotypes and genotypes or principal components extracted from them. We used a genetic additive model and adjusted for gender and disease duration. Three clinical features showed association with ancestry informative markers: autoantibody production defined as immunologic disorder (P = 6.8×10(-4)), oral ulcers (P = 6.9×10(-4)) and photosensitivity (P = 0.002). Immunologic disorder was associated with genotypes more common in Southern European ancestries, whereas the opposite trend was observed for photosensitivity. Oral ulcers were specifically more common in patients of Spanish and Portuguese self-reported ancestry. These results should be taken into account in future research and suggest new hypotheses and possible underlying mechanisms to be investigated. A first hypothesis linking photosensitivity with variation in skin pigmentation is suggested. |
| format |
article |
| author |
Elisa Alonso-Perez Marian Suarez-Gestal Manuel Calaza Torsten Witte Chryssa Papasteriades Maurizio Marchini Sergio Migliaresi Attila Kovacs Josep Ordi-Ros Marc Bijl Maria Jose Santos Sarka Ruzickova Rudolf Pullmann Patricia Carreira Fotini N Skopouli Sandra D'Alfonso Gian Domenico Sebastiani Ana Suarez Francisco J Blanco Juan J Gomez-Reino Antonio Gonzalez European Consortium of SLE DNA Collections |
| author_facet |
Elisa Alonso-Perez Marian Suarez-Gestal Manuel Calaza Torsten Witte Chryssa Papasteriades Maurizio Marchini Sergio Migliaresi Attila Kovacs Josep Ordi-Ros Marc Bijl Maria Jose Santos Sarka Ruzickova Rudolf Pullmann Patricia Carreira Fotini N Skopouli Sandra D'Alfonso Gian Domenico Sebastiani Ana Suarez Francisco J Blanco Juan J Gomez-Reino Antonio Gonzalez European Consortium of SLE DNA Collections |
| author_sort |
Elisa Alonso-Perez |
| title |
Association of systemic lupus erythematosus clinical features with European population genetic substructure. |
| title_short |
Association of systemic lupus erythematosus clinical features with European population genetic substructure. |
| title_full |
Association of systemic lupus erythematosus clinical features with European population genetic substructure. |
| title_fullStr |
Association of systemic lupus erythematosus clinical features with European population genetic substructure. |
| title_full_unstemmed |
Association of systemic lupus erythematosus clinical features with European population genetic substructure. |
| title_sort |
association of systemic lupus erythematosus clinical features with european population genetic substructure. |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2011 |
| url |
https://doaj.org/article/34af34c09cf743f4a1a00c4906574f32 |
| work_keys_str_mv |
AT elisaalonsoperez associationofsystemiclupuserythematosusclinicalfeatureswitheuropeanpopulationgeneticsubstructure AT mariansuarezgestal associationofsystemiclupuserythematosusclinicalfeatureswitheuropeanpopulationgeneticsubstructure AT manuelcalaza associationofsystemiclupuserythematosusclinicalfeatureswitheuropeanpopulationgeneticsubstructure AT torstenwitte associationofsystemiclupuserythematosusclinicalfeatureswitheuropeanpopulationgeneticsubstructure AT chryssapapasteriades associationofsystemiclupuserythematosusclinicalfeatureswitheuropeanpopulationgeneticsubstructure AT mauriziomarchini associationofsystemiclupuserythematosusclinicalfeatureswitheuropeanpopulationgeneticsubstructure AT sergiomigliaresi associationofsystemiclupuserythematosusclinicalfeatureswitheuropeanpopulationgeneticsubstructure AT attilakovacs associationofsystemiclupuserythematosusclinicalfeatureswitheuropeanpopulationgeneticsubstructure AT josepordiros associationofsystemiclupuserythematosusclinicalfeatureswitheuropeanpopulationgeneticsubstructure AT marcbijl associationofsystemiclupuserythematosusclinicalfeatureswitheuropeanpopulationgeneticsubstructure AT mariajosesantos associationofsystemiclupuserythematosusclinicalfeatureswitheuropeanpopulationgeneticsubstructure AT sarkaruzickova associationofsystemiclupuserythematosusclinicalfeatureswitheuropeanpopulationgeneticsubstructure AT rudolfpullmann associationofsystemiclupuserythematosusclinicalfeatureswitheuropeanpopulationgeneticsubstructure AT patriciacarreira associationofsystemiclupuserythematosusclinicalfeatureswitheuropeanpopulationgeneticsubstructure AT fotininskopouli associationofsystemiclupuserythematosusclinicalfeatureswitheuropeanpopulationgeneticsubstructure AT sandradalfonso associationofsystemiclupuserythematosusclinicalfeatureswitheuropeanpopulationgeneticsubstructure AT giandomenicosebastiani associationofsystemiclupuserythematosusclinicalfeatureswitheuropeanpopulationgeneticsubstructure AT anasuarez associationofsystemiclupuserythematosusclinicalfeatureswitheuropeanpopulationgeneticsubstructure AT franciscojblanco associationofsystemiclupuserythematosusclinicalfeatureswitheuropeanpopulationgeneticsubstructure AT juanjgomezreino associationofsystemiclupuserythematosusclinicalfeatureswitheuropeanpopulationgeneticsubstructure AT antoniogonzalez associationofsystemiclupuserythematosusclinicalfeatureswitheuropeanpopulationgeneticsubstructure AT europeanconsortiumofslednacollections associationofsystemiclupuserythematosusclinicalfeatureswitheuropeanpopulationgeneticsubstructure |
| _version_ |
1718423277087490048 |