title: Interleukin 1 beta (IL1ß) rs16944 genetic variant as a genetic marker of severe renal manifestations and renal sequelae in Henoch-Schönlein purpura.
abstract: OBJECTIVE
  Data from a small series suggested that the Interleukin 1 beta (IL1ß) rs16944 polymorphism may be associated with severe renal involvement and persistent renal damage (renal sequelae) in Henoch-Schönlein purpura (HSP). To confirm this association, we assessed the largest cohort of Caucasian HSP patients ever considered for genetic studies.
  
  
  METHODS
  338 Spanish HSP patients and 635 sex and ethnically matched controls were recruited in this study. All patients were required to have had at least 6 months' follow-up. Patients and controls were genotyped for IL1β rs16944 by TaqMan genotyping assay.
  
  
  RESULTS
  No differences between IL1β rs16944 genotype or allele frequencies were found either in the case/control study or when HSP patients were stratified according to the age at disease onset, presence of nephritis or gastrointestinal manifestations. Nevertheless, 4 (25%) of the 16 HSP patients who developed severe renal manifestations carried the TT genotype versus 29 (9%) of 322 who did not develop this complication (p=0.01, OR=5.48, 95% CI: 1.01-28.10). Accordingly, patients carrying the mutant T allele had an increased risk of developing severe nephropathy (p=0.016, OR=2.35, 95% CI: 1.09-5.07). Additionally, a significant increase of the TT genotype was observed in patients with persistent renal damage when compared with those patients without this complication (25% versus 8.6%, respectively; p=0.0035, OR=4.90, 95% CI: 1.26- 18.51). Moreover, renal sequelae were more common in patients carrying the mutant T allele (p=0.0076, OR=2.20, 95% CI: 1.17-4.14).
  
  
  CONCLUSIONS
  Our results support that the IL1ß rs16944 polymorphism may be a potential marker of severe renal manifestations and renal sequelae in HSP.
authors: Epidemiology, Genetics and Atherosclerosis Research Group on Systemic Inflammatory Diseases, IDIVAL, Santander, Spain.
authors: Raquel
authors: R
authors: López-Mejías
authors: Epidemiology, Genetics and Atherosclerosis Research Group on Systemic Inflammatory Diseases, IDIVAL, Santander, Spain.
authors: Fernanda
authors: F
authors: Genre
authors: Epidemiology, Genetics and Atherosclerosis Research Group on Systemic Inflammatory Diseases, IDIVAL, Santander, Spain.
authors: Sara
authors: S
authors: Remuzgo-Martínez
authors: Medicine Department, Hospital Universitario San Cecilio, Granada, Spain.
authors: Belen
authors: B
authors: Sevilla Pérez
authors: Rheumatology Department, Hospital Universitario La Princesa, IIS-Princesa, Madrid, Spain.
authors: Santos
authors: S
authors: Castañeda
authors: Epidemiology and Computational Biology Department, School of Medicine, University of Cantabria, and CIBER Epidemiología y Salud Pública (CIBERESP), IDIVAL, Santander, Spain.
authors: Javier
authors: J
authors: Llorca
authors: Medicine Department, Hospital Universitario San Cecilio, Granada, Spain.
authors: Norberto
authors: N
authors: Ortego-Centeno
authors: Epidemiology, Genetics and Atherosclerosis Research Group on Systemic Inflammatory Diseases, IDIVAL, Santander, Spain.
authors: Begoña
authors: B
authors: Ubilla
authors: Epidemiology, Genetics and Atherosclerosis Research Group on Systemic Inflammatory Diseases, IDIVAL, Santander, Spain.
authors: Verónica
authors: V
authors: Mijares
authors: Epidemiology, Genetics and Atherosclerosis Research Group on Systemic Inflammatory Diseases, IDIVAL, Santander, Spain.
authors: Trinitario
authors: T
authors: Pina
authors: Epidemiology, Genetics and Atherosclerosis Research Group on Systemic Inflammatory Diseases, IDIVAL, Santander, Spain.
authors: Vanesa
authors: V
authors: Calvo-Río
authors: Division of Rheumatology, Hospital Universitario Lucus Augusti, Lugo, Spain.
authors: Jose A
authors: JA
authors: Miranda-Filloy
authors: Nephrology Department, Hospital Universitario San Cecilio, Granada, Spain.
authors: Antonio
authors: A
authors: Navas Parejo
authors: Dermatology Department, Hospital Universitario La Princesa, IIS-Princesa, Madrid, Spain.
authors: Diego
authors: D
authors: Argila
authors: Dermatology Department, Hospital Universitario La Princesa, IIS-Princesa, Madrid, Spain.
authors: Javier
authors: J
authors: Sánchez-Pérez
authors: Rheumatology Department, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
authors: Esteban
authors: E
authors: Rubio
authors: Rheumatology Department, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
authors: Manuel León
authors: ML
authors: Luque
authors: Rheumatology Department, Hospital Universitario de Basurto, Bilbao, Spain.
authors: Juan María
authors: JM
authors: Blanco-Madrigal
authors: Rheumatology Department, Hospital Universitario de Basurto, Bilbao, Spain.
authors: Eva
authors: E
authors: Galíndez-Aguirregoikoa
authors: Institute of Parasitology and Biomedicine López-Neyra, CSIC, Granada, Spain.
authors: Javier
authors: J
authors: Martín
authors: Epidemiology, Genetics and Atherosclerosis Research Group on Systemic Inflammatory Diseases, IDIVAL, Santander, Spain.
authors: Ricardo
authors: R
authors: Blanco
authors: Epidemiology, Genetics & Atherosclerosis Res.Group, Systemic Inflammatory Diseases, IDIVAL; School of Medicine, Univ.of Cantabria, Santander, Spain; and Cardiovascular Pathophysiology & Genomics Research, Univ.of Witwatersrand, Johannesburg, South Africa.
authors: Miguel A
authors: MA
authors: González-Gay
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D005838:Genotype; D006801:Humans; D011695:IgA Vasculitis / Q000150:complications / Q000235:genetics*; D053583:Interleukin-1beta / Q000235:genetics*; D007674:Kidney Diseases / Q000209:etiology*; D008297:Male; D020641:Polymorphism, Single Nucleotide
chemical_list: D005819:Genetic Markers; D053583:Interleukin-1beta