Raquel López-Mejías1, Fernanda Genre1, Sara Remuzgo-Martínez1, Belen Sevilla Pérez2, Santos Castañeda3, Javier Llorca4, Norberto Ortego-Centeno2, Begoña Ubilla1, Verónica Mijares1, Trinitario Pina1, Vanesa Calvo-Río1, Jose A Miranda-Filloy5, Antonio Navas Parejo6, Diego Argila7, Javier Sánchez-Pérez7, Esteban Rubio8, Manuel León Luque8, Juan María Blanco-Madrigal9, Eva Galíndez-Aguirregoikoa9, Javier Martín10, Ricardo Blanco1, Miguel A González-Gay11. 1. Epidemiology, Genetics and Atherosclerosis Research Group on Systemic Inflammatory Diseases, IDIVAL, Santander, Spain. 2. Medicine Department, Hospital Universitario San Cecilio, Granada, Spain. 3. Rheumatology Department, Hospital Universitario La Princesa, IIS-Princesa, Madrid, Spain. 4. Epidemiology and Computational Biology Department, School of Medicine, University of Cantabria, and CIBER Epidemiología y Salud Pública (CIBERESP), IDIVAL, Santander, Spain. 5. Division of Rheumatology, Hospital Universitario Lucus Augusti, Lugo, Spain. 6. Nephrology Department, Hospital Universitario San Cecilio, Granada, Spain. 7. Dermatology Department, Hospital Universitario La Princesa, IIS-Princesa, Madrid, Spain. 8. Rheumatology Department, Hospital Universitario Virgen del Rocío, Sevilla, Spain. 9. Rheumatology Department, Hospital Universitario de Basurto, Bilbao, Spain. 10. Institute of Parasitology and Biomedicine López-Neyra, CSIC, Granada, Spain. 11. 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.
Abstract
OBJECTIVES: 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.
OBJECTIVES: 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: Chen Tang; Daphne Scaramangas-Plumley; Cynthia C Nast; Zab Mosenifar; Marc A Edelstein; Michael Weisman Journal: Am J Case Rep Date: 2017-02-08
Authors: Joao Carlos Batista Liz; Fernanda Genre; Verónica Pulito-Cueto; Sara Remuzgo-Martínez; Diana Prieto-Peña; Ana Márquez; Norberto Ortego-Centeno; María Teresa Leonardo; Ana Peñalba; Javier Narváez; Luis Martín-Penagos; Lara Belmar-Vega; Cristina Gómez-Fernández; José A Miranda-Filloy; Luis Caminal-Montero; Paz Collado; Diego De Árgila; Patricia Quiroga-Colina; Esther F Vicente-Rabaneda; Ana Triguero-Martínez; Esteban Rubio; Manuel León Luque; Juan María Blanco-Madrigal; Eva Galíndez-Agirregoikoa; Javier Martín; Oreste Gualillo; Ricardo Blanco; Santos Castañeda; Miguel A González-Gay; Raquel López-Mejías Journal: J Clin Med Date: 2022-09-22 Impact factor: 4.964
Authors: Diana Prieto-Peña; Fernanda Genre; Sara Remuzgo-Martínez; Verónica Pulito-Cueto; Belén Atienza-Mateo; Javier Llorca; Belén Sevilla-Pérez; Norberto Ortego-Centeno; Leticia Lera-Gómez; María Teresa Leonardo; Ana Peñalba; Javier Narváez; Luis Martín-Penagos; Emilio Rodrigo; José A Miranda-Filloy; Luis Caminal-Montero; Paz Collado; Javier Sánchez Pérez; Diego de Argila; Esteban Rubio; Manuel León Luque; Juan María Blanco-Madrigal; Eva Galíndez-Agirregoikoa; Oreste Gualillo; Javier Martín; Santos Castañeda; Ricardo Blanco; Miguel A González-Gay; Raquel López-Mejías Journal: Sci Rep Date: 2021-06-01 Impact factor: 4.379
Authors: Diana Prieto-Peña; Sara Remuzgo-Martínez; Fernanda Genre; Verónica Pulito-Cueto; Belén Atienza-Mateo; Javier Llorca; Belén Sevilla-Pérez; Norberto Ortego-Centeno; Ana Marquez; Leticia Lera-Gómez; María Teresa Leonardo; Ana Peñalba; Javier Narváez; Luis Martín-Penagos; Emilio Rodrigo; José A Miranda-Filloy; Luis Caminal-Montero; Paz Collado; Javier Sánchez Pérez; Diego de Argila; Esteban Rubio; Manuel León Luque; Juan María Blanco-Madrigal; Eva Galíndez-Agirregoikoa; Oreste Gualillo; Javier Martín; Santos Castañeda; Ricardo Blanco; Miguel A González-Gay; Raquel López-Mejías Journal: Sci Rep Date: 2021-08-09 Impact factor: 4.379