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2. Genome‐wide association study of inhaled corticosteroid response in admixed children with asthma

Author

Hernandez‐Pacheco, Natalia, Farzan, Niloufar, Francis, Ben, Karimi, Leila, Repnik, Katja, Vijverberg, Susanne J, Soares, Patricia, Schieck, Maximilian, Gorenjak, Mario, Forno, Erick, Eng, Celeste, Oh, Sam S, Pérez‐Méndez, Lina, Berce, Vojko, Tavendale, Roger, Samedy, Lesly‐Anne, Hunstman, Scott, Hu, Donglei, Meade, Kelley, Farber, Harold J, Avila, Pedro C, Serebrisky, Denise, Thyne, Shannon M, Brigino‐Buenaventura, Emerita, Rodriguez‐Cintron, William, Sen, Saunak, Kumar, Rajesh, Lenoir, Michael, Rodriguez‐Santana, Jose R, Celedón, Juan C, Mukhopadhyay, Somnath, Potočnik, Uroš, Pirmohamed, Munir, Verhamme, Katia M, Kabesch, Michael, Palmer, Colin NA, Hawcutt, Daniel B, Flores, Carlos, der Zee, Anke H Maitland‐van, Burchard, Esteban G, and Pino‐Yanes, Maria

Subjects
Biomedical and Clinical Sciences, Immunology, Human Genome, Asthma, Genetics, Clinical Research, Lung, Respiratory, Administration, Inhalation, Adolescent, Adrenal Cortex Hormones, Child, Cytidine Deaminase, DNA-Binding Proteins, Female, GTPase-Activating Proteins, Genome-Wide Association Study, Humans, Male, Minor Histocompatibility Antigens, African American, childhood asthma, exacerbations, Latino, pharmacogenomics, Nutrition and Dietetics, Public Health and Health Services, Allergy
Abstract

BackgroundInhaled corticosteroids (ICS) are the most widely prescribed and effective medication to control asthma symptoms and exacerbations. However, many children still have asthma exacerbations despite treatment, particularly in admixed populations, such as Puerto Ricans and African Americans. A few genome-wide association studies (GWAS) have been performed in European and Asian populations, and they have demonstrated the importance of the genetic component in ICS response.ObjectiveWe aimed to identify genetic variants associated with asthma exacerbations in admixed children treated with ICS and to validate previous GWAS findings.MethodsA meta-analysis of two GWAS of asthma exacerbations was performed in 1347 admixed children treated with ICS (Hispanics/Latinos and African Americans), analysing 8.7 million genetic variants. Those with P ≤ 5 × 10-6 were followed up for replication in 1697 asthmatic patients from six European studies. Associations of ICS response described in published GWAS were followed up for replication in the admixed populations.ResultsA total of 15 independent variants were suggestively associated with asthma exacerbations in admixed populations (P ≤ 5 × 10-6 ). One of them, located in the intergenic region of APOBEC3B and APOBEC3C, showed evidence of replication in Europeans (rs5995653, P = 7.52 × 10-3 ) and was also associated with change in lung function after treatment with ICS (P = 4.91 × 10-3 ). Additionally, the reported association of the L3MBTL4-ARHGAP28 genomic region was confirmed in admixed populations, although a different variant was identified.Conclusions and clinical relevanceThis study revealed the novel association of APOBEC3B and APOBEC3C with asthma exacerbations in children treated with ICS and replicated previously identified genomic regions. This contributes to the current knowledge about the multiple genetic markers determining responsiveness to ICS which could lead in the future the clinical identification of those asthma patients who are not able to respond to such treatment.

Published
2019

5. Pharmacogenomic associations of adverse drug reactions in asthma: systematic review and research prioritisation

Author

King, Charlotte, McKenna, Amanda, Farzan, Niloufar, Vijverberg, Susanne J., van der Schee, Marc P., Maitland-van der Zee, Anke H., Arianto, Lambang, Bisgaard, Hans, BØnnelykke, Klaus, Berce, Vojko, PotoČnik, Uros, Repnik, Katja, Carleton, Bruce, Daley, Denise, Chew, Fook Tim, Chiang, Wen Chin, Sio, Yang Yie, Cloutier, Michelle M., Den Dekker, Herman T., Duijts, Liesbeth, de Jongste, Johan C., Dijk, F. Nicole, Flores, Carlos, Hernandez-Pacheco, Natalia, Mukhopadhyay, Somnath, Basu, Kaninika, Tantisira, Kelan G., Verhamme, Katia M., Celedón, Juan C., Forno, Erick, Canino, Glorisa, Francis, Ben, Pirmohamed, Munir, Sinha, Ian, and Hawcutt, Daniel B.

Published
2020
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8. The Medical Community’s Role in Communication Strategies during Health Crises—Perspective from European Union of Medical Specialists (UEMS)

Author

Nadareishvili, Ilia, primary, Bazas, Theodore, additional, Petrosillo, Nicola, additional, Berce, Vojko, additional, Firth, John, additional, Mansilha, Armando, additional, Leventer, Mihaela, additional, Renieri, Alessandra, additional, Zampolini, Mauro, additional, and Papalois, Vassilios, additional

Published
2023
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9. Oral health of schoolchildren before and after the COVID-19 pandemic.

Author

EGIC, Boris and BERCE, Vojko

Subjects
*COVID-19 pandemic, *SCHOOL children, *ORAL health, *DECIDUOUS teeth, *DENTAL auxiliary personnel, *NINTH grade (Education), *DENTAL education, *DENTAL schools, *DENTAL health education
Abstract

BACKGROUND: The COVID-19 pandemic reduced access to medical services and led to an increase in complications and exacerbation of many diseases that occurred during and after the pandemic, including deterioration in oral health. One of the main oral health indicators is the index of the number of decayed, extracted, and filled primary teeth (deft) or decayed, extracted, and filled permanent teeth (DEFT). The aim of this study was to determine whether restricted access to dental services during the COVID-19 pandemic led to a deterioration in oral health among schoolchildren. METHOD: Data of oral systematic examinations before (school year: 2018-2019) and after (school year: 2021-2022) the pandemic were used for the study. Systematic oral examinations were conducted for all primary school students from the first to ninth grades at Murska Sobota Public Health Center, and the number of decayed, filled, and extracted (due to caries) primary and permanent teeth were recorded for each student. The deft and DEFT index values before and after the pandemic were calculated and compared for students in first (age range: six to seven years) to fifth (age range: 10-11 years) grades and students in fifth to ninth (age range 14-15 years) grades, respectively. RESULTS: We found that the median deft index of the whole population before the pandemic was 3, whereas it was 2 afterwards (p < 0.01). For students in the first and second grades, the median deft index was 3 before the pandemic and 2 afterwards (p = 0.01), and for students in the third grade, it was 4 (p = 0.02) before the pandemic and 2 afterwards (p < 0.01). The median DEFT index of the whole population was 1 before the pandemic and 0 afterwards (p < 0.01). For students in the seventh, eighth and ninth grades, the median DEFT index values were 1, 2 and 2, respectively, before the pandemic and 0, 0 and 1, respectively, afterwards (p < 0.01 for seventh and eighth grades and p = 0.02 for ninth grade). CONCLUSION: The results of our study showed a lower deft/DEFT index after the pandemic, which could be explained by increased health and hygiene awareness during the pandemic, as children/parents were mostly responsible for maintaining good oral health. Limited access to dental services does not necessarily imply poor oral health (Tab. 1, Ref. 25). [ABSTRACT FROM AUTHOR]

Published
2024
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10. Risk Factors for Anaphylaxis in Children Allergic to Peanuts

Author

Petek, Tadej, primary, Lajhar, Mija, additional, Krašovec, Blažka, additional, Homšak, Matjaž, additional, Kavalar, Maja, additional, Korošec, Peter, additional, Koren, Brigita, additional, Tomazin, Maja, additional, Hojnik, Tina, additional, and Berce, Vojko, additional

Published
2023
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11. Featured Cover

Author

Korošec, Peter, primary, Koren, Ana, additional, Debeljak, Jerneja, additional, Zahirović, Abida, additional, Skerbinjek‐Kavalar, Maja, additional, Berce, Vojko, additional, Dejanović, Luka, additional, Luzar, Jernej, additional, Štrukelj, Borut, additional, and Lunder, Mojca, additional

Published
2023
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13. Epigenome-Wide Association Studies of the Fractional Exhaled Nitric Oxide and Bronchodilator Drug Response in Moderate-to-Severe Pediatric Asthma

Author

Martin-Almeida, Mario, Perez-Garcia, Javier, Herrera-Luis, Esther, Rosa-Baez, Carlos, Gorenjak, Mario, Neerincx, Anne H., Sardón-Prado, Olaia, Toncheva, Antoaneta A., Harner, Susanne, Wolff, Christine, Brandstetter, Susanne, Valletta, Elisa, Abdel-Aziz, Mahmoud I., Hashimoto, Simone, Berce, Vojko, Corcuera-Elosegui, Paula, Korta-Murua, Javier, Buntrock-Döpke, Heike, Vijverberg, Susanne J. H., Verster, Joris, Kerssemakers, Nikki, Hedman, Anna, Almqvist, Catarina, Villar, Jesús, Kraneveld, Aletta, Potočnik, Uroš, Kabesch, Michael, Zee, Anke Maitland-van der, Pino-Yanes, Maria, Consortium, on behalf of the SysPharmPediA, Martin-Almeida, Mario, Perez-Garcia, Javier, Herrera-Luis, Esther, Rosa-Baez, Carlos, Gorenjak, Mario, Neerincx, Anne H., Sardón-Prado, Olaia, Toncheva, Antoaneta A., Harner, Susanne, Wolff, Christine, Brandstetter, Susanne, Valletta, Elisa, Abdel-Aziz, Mahmoud I., Hashimoto, Simone, Berce, Vojko, Corcuera-Elosegui, Paula, Korta-Murua, Javier, Buntrock-Döpke, Heike, Vijverberg, Susanne J. H., Verster, Joris, Kerssemakers, Nikki, Hedman, Anna, Almqvist, Catarina, Villar, Jesús, Kraneveld, Aletta, Potočnik, Uroš, Kabesch, Michael, Zee, Anke Maitland-van der, Pino-Yanes, Maria, and Consortium, on behalf of the SysPharmPediA

Abstract

Asthma is the most prevalent pediatric chronic disease. Bronchodilator drug response (BDR) and fractional exhaled nitric oxide (FeNO) are clinical biomarkers of asthma. Although DNA methylation (DNAm) contributes to asthma pathogenesis, the influence of DNAm on BDR and FeNO is scarcely investigated. This study aims to identify DNAm markers in whole blood associated either with BDR or FeNO in pediatric asthma. We analyzed 121 samples from children with moderate-to-severe asthma. The association of genome-wide DNAm with BDR and FeNO has been assessed using regression models, adjusting for age, sex, ancestry, and tissue heterogeneity. Cross-tissue validation was assessed in 50 nasal samples. Differentially methylated regions (DMRs) and enrichment in traits and biological pathways were assessed. A false discovery rate (FDR) < 0.1 and a genome-wide significance threshold of p < 9 × 10−8 were used to control for false-positive results. The CpG cg12835256 (PLA2G12A) was genome-wide associated with FeNO in blood samples (coefficient= −0.015, p = 2.53 × 10−9) and nominally associated in nasal samples (coefficient = −0.015, p = 0.045). Additionally, three CpGs were suggestively associated with BDR (FDR < 0.1). We identified 12 and four DMRs associated with FeNO and BDR (FDR < 0.05), respectively. An enrichment in allergic and inflammatory processes, smoking, and aging was observed. We reported novel associations of DNAm markers associated with BDR and FeNO enriched in asthma-related processes.

Published
2023

14. Epigenome-Wide Association Studies of the Fractional Exhaled Nitric Oxide and Bronchodilator Drug Response in Moderate-to-Severe Pediatric Asthma

Author

Afd Pharmacology, Pharmacology, Pharmacoepidemiology and Clinical Pharmacology, Martin-Almeida, Mario, Perez-Garcia, Javier, Herrera-Luis, Esther, Rosa-Baez, Carlos, Gorenjak, Mario, Neerincx, Anne H., Sardón-Prado, Olaia, Toncheva, Antoaneta A., Harner, Susanne, Wolff, Christine, Brandstetter, Susanne, Valletta, Elisa, Abdel-Aziz, Mahmoud I., Hashimoto, Simone, Berce, Vojko, Corcuera-Elosegui, Paula, Korta-Murua, Javier, Buntrock-Döpke, Heike, Vijverberg, Susanne J. H., Verster, Joris, Kerssemakers, Nikki, Hedman, Anna, Almqvist, Catarina, Villar, Jesús, Kraneveld, Aletta, Potočnik, Uroš, Kabesch, Michael, Zee, Anke Maitland-van der, Pino-Yanes, Maria, Consortium, on behalf of the SysPharmPediA, Afd Pharmacology, Pharmacology, Pharmacoepidemiology and Clinical Pharmacology, Martin-Almeida, Mario, Perez-Garcia, Javier, Herrera-Luis, Esther, Rosa-Baez, Carlos, Gorenjak, Mario, Neerincx, Anne H., Sardón-Prado, Olaia, Toncheva, Antoaneta A., Harner, Susanne, Wolff, Christine, Brandstetter, Susanne, Valletta, Elisa, Abdel-Aziz, Mahmoud I., Hashimoto, Simone, Berce, Vojko, Corcuera-Elosegui, Paula, Korta-Murua, Javier, Buntrock-Döpke, Heike, Vijverberg, Susanne J. H., Verster, Joris, Kerssemakers, Nikki, Hedman, Anna, Almqvist, Catarina, Villar, Jesús, Kraneveld, Aletta, Potočnik, Uroš, Kabesch, Michael, Zee, Anke Maitland-van der, Pino-Yanes, Maria, and Consortium, on behalf of the SysPharmPediA

Published
2023

16. Correction: Pharmacogenomic associations of adverse drug reactions in asthma: systematic review and research prioritization

Author

King, Charlotte, McKenna, Amanda, Farzan, Niloufar, Vijverberg, Susanne J., van der Schee, Marc P., Maitland-van der Zee, Anke H., Arianto, Lambang, Bisgaard, Hans, BØnnelykke, Klaus, Berce, Vojko, PotoČnik, Uros, Repnik, Katja, Carleton, Bruce, Daley, Denise, Chew, Fook Tim, Chiang, Wen Chin, Sio, Yang Yie, Cloutier, Michelle M., Den Dekker, Herman T., Duijts, Liesbeth, de Jongste, Johan C., Dijk, F. Nicole, Flores, Carlos, Hernandez-Pacheco, Natalia, Mukhopadhyay, Somnath, Basu, Kaninika, Tantisira, Kelan G., Verhamme, Katia M., Celedón, Juan C., Forno, Erick, Canino, Glorisa, Francis, Ben, Pirmohamed, Munir, Sinha, Ian, and Hawcutt, Daniel B.

Published
2020
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20. Association of bronchial steroid inducible methylation quantitative trait loci with asthma and chronic obstructive pulmonary disease treatment response

Author

Slob, Elise M. A., primary, Faiz, Alen, additional, van Nijnatten, Jos, additional, Vijverberg, Susanne J. H., additional, Longo, Cristina, additional, Kutlu, Merve, additional, Chew, Fook Tim, additional, Sio, Yang Yie, additional, Herrera‐Luis, Esther, additional, Espuela‐Ortiz, Antonio, additional, Perez‐Garcia, Javier, additional, Pino‐Yanes, Maria, additional, Burchard, Esteban G., additional, Potočnik, Uroš, additional, Gorenjak, Mario, additional, Palmer, Colin, additional, Maroteau, Cyrielle, additional, Turner, Steve, additional, Verhamme, Katia, additional, Karimi, Leila, additional, Mukhopadhyay, Somnath, additional, Timens, Wim, additional, Hiemstra, Pieter S., additional, Pijnenburg, Mariëlle W., additional, Neighbors, Margaret, additional, Grimbaldeston, Michele A., additional, Tew, Gaik W., additional, Brandsma, Corry A., additional, Berce, Vojko, additional, Aliee, Hananeh, additional, Theis, Fabian, additional, Sin, Don D., additional, Li, Xuan, additional, van den Berge, Maarten, additional, Maitland‐van der Zee, Anke H., additional, and Koppelman, Gerard H., additional

Published
2022
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21. Association of bronchial steroid inducible methylation quantitative trait loci with asthma and chronic obstructive pulmonary disease treatment response

Author

Slob, Elise M.A., Faiz, Alen, van Nijnatten, Jos, Vijverberg, Susanne J.H., Longo, Cristina, Kutlu, Merve, Chew, Fook Tim, Sio, Yang Yie, Herrera-Luis, Esther, Espuela-Ortiz, Antonio, Perez-Garcia, Javier, Pino-Yanes, Maria, Burchard, Esteban G., Potočnik, Uroš, Gorenjak, Mario, Palmer, Colin, Maroteau, Cyrielle, Turner, Steve, Verhamme, Katia, Karimi, Leila, Mukhopadhyay, Somnath, Timens, Wim, Hiemstra, Pieter S., Pijnenburg, Mariëlle W., Neighbors, Margaret, Grimbaldeston, Michele A., Tew, Gaik W., Brandsma, Corry A., Berce, Vojko, Aliee, Hananeh, Theis, Fabian, Sin, Don D., Li, Xuan, van den Berge, Maarten, Maitland-van der Zee, Anke H., Koppelman, Gerard H., Slob, Elise M.A., Faiz, Alen, van Nijnatten, Jos, Vijverberg, Susanne J.H., Longo, Cristina, Kutlu, Merve, Chew, Fook Tim, Sio, Yang Yie, Herrera-Luis, Esther, Espuela-Ortiz, Antonio, Perez-Garcia, Javier, Pino-Yanes, Maria, Burchard, Esteban G., Potočnik, Uroš, Gorenjak, Mario, Palmer, Colin, Maroteau, Cyrielle, Turner, Steve, Verhamme, Katia, Karimi, Leila, Mukhopadhyay, Somnath, Timens, Wim, Hiemstra, Pieter S., Pijnenburg, Mariëlle W., Neighbors, Margaret, Grimbaldeston, Michele A., Tew, Gaik W., Brandsma, Corry A., Berce, Vojko, Aliee, Hananeh, Theis, Fabian, Sin, Don D., Li, Xuan, van den Berge, Maarten, Maitland-van der Zee, Anke H., and Koppelman, Gerard H.

Published
2022

23. High incidence of multisystem inflammatory syndrome and other autoimmune diseases after SARS-CoV-2 infection compared to COVID-19 vaccination in children and adolescents in south central Europe

Author

Bizjak, Maša, primary, Emeršič, Nina, additional, Zajc Avramovič, Mojca, additional, Barbone, Fabio, additional, Ronchese, Federico, additional, Della Paolera, Sara, additional, Conversano, Ester, additional, Amoroso, Stefano, additional, Vidoni, Michael, additional, Vesel Tajnšek, Tina, additional, Mlakar, Gorazd, additional, Berce, Vojko, additional, Markelj, Gašper, additional, Plankar Srovin, Tina, additional, Golli, Tanja, additional, Osredkar, Damjan, additional, Koren Jeverica, Anja, additional, Toplak, Nataša, additional, Pokorn, Marko, additional, Avšič Županc, Tatjana, additional, Ihan, Alojz, additional, Fafangel, Mario, additional, Taddio, Andrea, additional, and Avčin, Tadej, additional

Published
2022
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25. Identification of ROBO2 as a Potential Locus Associated with Inhaled Corticosteroid Response in Childhood Asthma

Author

Hernandez-Pacheco, Natalia, primary, Gorenjak, Mario, additional, Li, Jiang, additional, Repnik, Katja, additional, Vijverberg, Susanne J., additional, Berce, Vojko, additional, Jorgensen, Andrea, additional, Karimi, Leila, additional, Schieck, Maximilian, additional, Samedy-Bates, Lesly-Anne, additional, Tavendale, Roger, additional, Villar, Jesús, additional, Mukhopadhyay, Somnath, additional, Pirmohamed, Munir, additional, Verhamme, Katia M. C., additional, Kabesch, Michael, additional, Hawcutt, Daniel B., additional, Turner, Steve, additional, Palmer, Colin N., additional, Tantisira, Kelan G., additional, Burchard, Esteban G., additional, Maitland-van der Zee, Anke H., additional, Flores, Carlos, additional, Potočnik, Uroš, additional, and Pino-Yanes, Maria, additional

Published
2021
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26. Genome-wide association study of asthma exacerbations despite inhaled corticosteroid use

Author

Hernandez-Pacheco, Natalia, Vijverberg, Susanne J., Herrera-Luis, Esther, Li, Jiang, Sio, Yang Yie, Granell, Raquel, Corrales, Almudena, Maroteau, Cyrielle, Lethem, Ryan, Perez-Garcia, Javier, Farzan, Niloufar, Repnik, Katja, Gorenjak, Mario, Soares, Patricia, Karimi, Leila, Schieck, Maximilian, Pérez-Méndez, Lina, Berce, Vojko, Tavendale, Roger, Eng, Celeste, Sardon, Olaia, Kull, Inger, Mukhopadhyay, Somnath, Pirmohamed, Munir, Verhamme, Katia M.C., Burchard, Esteban G., Kabesch, Michael, Hawcutt, Daniel B., Melén, Erik, Potočnik, Uroš, Chew, Fook Tim, Tantisira, Kelan G., Turner, Steve, Palmer, Colin N., Flores, Carlos, Pino-Yanes, Maria, Maitland-Van der Zee, Anke H., Hernandez-Pacheco, Natalia, Vijverberg, Susanne J., Herrera-Luis, Esther, Li, Jiang, Sio, Yang Yie, Granell, Raquel, Corrales, Almudena, Maroteau, Cyrielle, Lethem, Ryan, Perez-Garcia, Javier, Farzan, Niloufar, Repnik, Katja, Gorenjak, Mario, Soares, Patricia, Karimi, Leila, Schieck, Maximilian, Pérez-Méndez, Lina, Berce, Vojko, Tavendale, Roger, Eng, Celeste, Sardon, Olaia, Kull, Inger, Mukhopadhyay, Somnath, Pirmohamed, Munir, Verhamme, Katia M.C., Burchard, Esteban G., Kabesch, Michael, Hawcutt, Daniel B., Melén, Erik, Potočnik, Uroš, Chew, Fook Tim, Tantisira, Kelan G., Turner, Steve, Palmer, Colin N., Flores, Carlos, Pino-Yanes, Maria, and Maitland-Van der Zee, Anke H.

Abstract

Rationale: Substantial variability in response to asthma treatment with inhaled corticosteroids (ICS) has been described among individuals and populations, suggesting the contribution of genetic factors. Nonetheless, only a few genes have been identified to date. We aimed to identify genetic variants associated with asthma exacerbations despite ICS use in European children and young adults and to validate the findings in non-Europeans. Moreover, we explored whether a gene-set enrichment analysis could suggest potential novel asthma therapies. Methods: A genome-wide association study (GWAS) of asthma exacerbations was tested in 2681 children of European descent treated with ICS from eight studies. Suggestive association signals were followed up for replication in 538 European asthma patients. Further evaluation was performed in 1773 non-Europeans. Variants revealed by published GWAS were assessed for replication. Additionally, gene-set enrichment analysis focused on drugs was performed. Results: 10 independent variants were associated with asthma exacerbations despite ICS treatment in the discovery phase (p≤/5×10−6). Of those, one variant at the CACNA2D3-WNT5A locus was nominally replicated in Europeans (rs67026078; p=0.010), but this was not validated in non-European populations. Five other genes associated with ICS response in previous studies were replicated. Additionally, an enrichment of associations in genes regulated by trichostatin A treatment was found. Conclusions: The intergenic region of CACNA2D3 and WNT5A was revealed as a novel locus for asthma exacerbations despite ICS treatment in European populations. Genes associated were related to trichostatin A, suggesting that this drug could regulate the molecular mechanisms involved in treatment response.

Published
2021

27. Combined analysis of transcriptomic and genetic data for the identification of loci involved in glucocorticosteroid response in asthma

Author

Hernández-Pacheco, Natalia, Gorenjak, Mario, Jurgec, Staša, Corrales, Almudena, Jorgensen, Andrea, Karimi, Leila, Vijverberg, Susanne J, Berce, Vojko, Schieck, Maximilian, Acosta-Herrera, Marialbert, Kerick, Martin, Samedy-Bates, Lesly-Anne, Tavendale, Roger, Villar, Jesús, Mukhopadhyay, S., Pirmohamed, Munir, Verhamme, Katia M C, Kabesch, Michael, Hawcutt, Daniel B, Turner, Steve, Palmer, Colin N, Burchard, Esteban G, Maitland-van der Zee, Anke H, Flores, Carlos, Potočnik, Uroš, Pino-Yanes, María, PiCA and SysPharmPedia consortia, Hernández-Pacheco, Natalia, Gorenjak, Mario, Jurgec, Staša, Corrales, Almudena, Jorgensen, Andrea, Karimi, Leila, Vijverberg, Susanne J, Berce, Vojko, Schieck, Maximilian, Acosta-Herrera, Marialbert, Kerick, Martin, Samedy-Bates, Lesly-Anne, Tavendale, Roger, Villar, Jesús, Mukhopadhyay, S., Pirmohamed, Munir, Verhamme, Katia M C, Kabesch, Michael, Hawcutt, Daniel B, Turner, Steve, Palmer, Colin N, Burchard, Esteban G, Maitland-van der Zee, Anke H, Flores, Carlos, Potočnik, Uroš, Pino-Yanes, María, and PiCA and SysPharmPedia consortia

Published
2021

29. The impact of comorbidities on the severity of atopic dermatitis in children.

Author

Berce, Vojko, Marhold, Teja, and Delopst, Vid

Subjects
*SKIN inflammation, *PEDIATRIC dermatology, *ATOPIC dermatitis, *GENETIC mutation, *DNA analysis
Abstract

Introduction: Atopic dermatitis (AD) is a chronic pruritic inflammatory skin disease. It is associated with atopy, impaired skin barrier, skin infections and several other comorbidities. Aim: To identify comorbidities and risk factors that influence the severity of AD in children. Material and methods: We performed a cross-sectional study involving 52 children newly diagnosed with AD. The severity of AD was assessed with the SCORing Atopic Dermatitis (SCORAD) clinical tool. Levels of serum tryptase, zinc, selenium, and immunoglobulins A, G, M and E (IgA, IgG, IgM, and total IgE, respectively) were determined as well as allergen-specific E antibodies (IgE) to the most common allergens. DNA samples from venous blood were screened for the most common mutations in the filaggrin gene. Results: The median age of patients was 30 months. The median SCORAD index in patients with atopy was 47.8, compared to 27.2 in non-atopic patients (p < 0.01). We also found a significantly higher median SCORAD of 61.2 in patients with low serum IgM levels compared to 34.9 in patients with normal serum IgM levels (p = 0.03). A history of impetigo was also associated with a higher median SCORAD of 56.2 compared to 34.0 in patients without impetigo (p = 0.01). Conclusions: Patients with AD and sensitisation to common allergens, low levels of IgM or a history of impetigo are at risk for more severe disease and, therefore, need more attention, meticulous skin care, proactive management and treatment of comorbidities, when possible. [ABSTRACT FROM AUTHOR]

Published
2022
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30. Pharmacogenomic associations of adverse drug reactions in asthma:systematic review and research prioritisation

Author

King, Charlotte, McKenna, Amanda, Farzan, Niloufar, Vijverberg, Susanne J., van der Schee, Marc P., Maitland-van der Zee, Anke H., Arianto, Lambang, Bisgaard, Hans, BØnnelykke, Klaus, Berce, Vojko, Potočnik, Uroš, Repnik, Katja, Carleton, Bruce, Daley, Denise, Chew, Fook Tim, Chiang, Wen Chin, Sio, Yang Yie, Cloutier, Michelle M., Den Dekker, Herman T., Duijts, Liesbeth, de Jongste, Johan C., Dijk, F. Nicole, Koppelman, Gerard H., Flores, Carlos, Hernandez-Pacheco, Natalia, Pino-Yanes, Maria, Mukhopadhyay, Somnath, Basu, Kaninika, Bignell, Lauren, Tantisira, Kelan G., Turner, Steve, Verhamme, Katia M., Francis, Ben, Pirmohamed, Munir, Sinha, Ian, Hawcutt, Daniel B., King, Charlotte, McKenna, Amanda, Farzan, Niloufar, Vijverberg, Susanne J., van der Schee, Marc P., Maitland-van der Zee, Anke H., Arianto, Lambang, Bisgaard, Hans, BØnnelykke, Klaus, Berce, Vojko, Potočnik, Uroš, Repnik, Katja, Carleton, Bruce, Daley, Denise, Chew, Fook Tim, Chiang, Wen Chin, Sio, Yang Yie, Cloutier, Michelle M., Den Dekker, Herman T., Duijts, Liesbeth, de Jongste, Johan C., Dijk, F. Nicole, Koppelman, Gerard H., Flores, Carlos, Hernandez-Pacheco, Natalia, Pino-Yanes, Maria, Mukhopadhyay, Somnath, Basu, Kaninika, Bignell, Lauren, Tantisira, Kelan G., Turner, Steve, Verhamme, Katia M., Francis, Ben, Pirmohamed, Munir, Sinha, Ian, and Hawcutt, Daniel B.

Abstract

A systematic review of pharmacogenomic studies capturing adverse drug reactions (ADRs) related to asthma medications was undertaken, and a survey of Pharmacogenomics in Childhood Asthma (PiCA) consortia members was conducted. Studies were eligible if genetic polymorphisms were compared with suspected ADR(s) in a patient with asthma, as either a primary or secondary outcome. Five studies met the inclusion criteria. The ADRs and polymorphisms identified were change in lung function tests (rs1042713), adrenal suppression (rs591118), and decreased bone mineral density (rs6461639) and accretion (rs9896933, rs2074439). Two of these polymorphisms were replicated within the paper, but none had external replication. Priorities from PiCA consortia members (representing 15 institution in eight countries) for future studies were tachycardia (SABA/LABA), adrenal suppression/crisis and growth suppression (corticosteroids), sleep/behaviour disturbances (leukotriene receptor antagonists), and nausea and vomiting (theophylline). Future pharmacogenomic studies in asthma should collect relevant ADR data as well as markers of efficacy.

Published
2020

32. Genome-wide association study of asthma exacerbations despite inhaled corticosteroid use

Author

Hernandez-Pacheco, Natalia, primary, Vijverberg, Susanne J., additional, Herrera-Luis, Esther, additional, Li, Jiang, additional, Sio, Yang Yie, additional, Granell, Raquel, additional, Corrales, Almudena, additional, Maroteau, Cyrielle, additional, Lethem, Ryan, additional, Perez-Garcia, Javier, additional, Farzan, Niloufar, additional, Repnik, Katja, additional, Gorenjak, Mario, additional, Soares, Patricia, additional, Karimi, Leila, additional, Schieck, Maximilian, additional, Pérez-Méndez, Lina, additional, Berce, Vojko, additional, Tavendale, Roger, additional, Eng, Celeste, additional, Sardon, Olaia, additional, Kull, Inger, additional, Mukhopadhyay, Somnath, additional, Pirmohamed, Munir, additional, Verhamme, Katia M.C., additional, Burchard, Esteban G., additional, Kabesch, Michael, additional, Hawcutt, Daniel B., additional, Melén, Erik, additional, Potočnik, Uroš, additional, Chew, Fook Tim, additional, Tantisira, Kelan G., additional, Turner, Steve, additional, Palmer, Colin N., additional, Flores, Carlos, additional, Pino-Yanes, Maria, additional, and Maitland-van der Zee, Anke H., additional

Published
2020
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33. The burden of severe asthma in children and youths in Europe

Author

Harner, Susanne, primary, Sardón, Olaia, additional, Brandstetter, Susanne, additional, Corcuera, Paula, additional, Korta, Jose, additional, Abdel-Aziz, Mahmoud I., additional, Brinkman, Paul, additional, Vijverberg, Susanne J. H., additional, Neerincx, Anne H., additional, Hashimoto, Simone, additional, Kraneveld, Aletta D., additional, Pino-Yanes, Maria, additional, Hernandez-Pacheco, Natalia, additional, Herrera-Luis, Esther, additional, Perez-Garcia, Javier, additional, Lorenzo-Diaz, Fabian, additional, Potočnik, Uroš, additional, Gorenjak, Mario, additional, Repnik, Katja, additional, Berce, Vojko, additional, Buntrock-Döpke, Heike, additional, Wolff, Christine, additional, Valletta, Elisa, additional, Toncheva, Antoaneta, additional, Verster, Joris C., additional, Kerssemakers, Nikki, additional, Maitland-Van Der Zee, Anke H., additional, and Kabesch, Michael, additional

Published
2020
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38. Genome-wide association study of inhaled corticosteroid response in admixed children with asthma

Author

Hernandez-Pacheco, Natalia, Farzan, Niloufar, Francis, Ben, Karimi, Leila, Repnik, Katja, Vijverberg, Susanne J, Soares, Patricia, Schieck, Maximilian, Gorenjak, Mario, Forno, Erick, Eng, Celeste, Oh, Sam S, Pérez-Méndez, Lina, Berce, Vojko, Tavendale, Roger, Samedy, Lesly-Anne, Hunstman, Scott, Hu, Donglei, Meade, Kelley, Farber, Harold J, Avila, Pedro C, Serebrisky, Denise, Thyne, Shannon M, Brigino-Buenaventura, Emerita, Rodriguez-Cintron, William, Sen, Saunak, Kumar, Rajesh, Lenoir, Michael, Rodriguez-Santana, Jose R, Celedón, Juan C, Mukhopadhyay, Somnath, Potočnik, Uroš, Pirmohamed, Munir, Verhamme, Katia M, Kabesch, Michael, Palmer, Colin NA, Hawcutt, Daniel B, Flores, Carlos, Maitland-van der Zee, Anke H, Burchard, Esteban G, and Pino-Yanes, Maria

Subjects
Male, Latino, Adolescent, Allergy, Immunology, Minor Histocompatibility Antigens, exacerbations, Adrenal Cortex Hormones, childhood asthma, Cytidine Deaminase, Genetics, Humans, 2.1 Biological and endogenous factors, Aetiology, Child, African American, Lung, pharmacogenomics, Nutrition and Dietetics, GTPase-Activating Proteins, Human Genome, Asthma, DNA-Binding Proteins, Inhalation, Administration, Respiratory, Public Health and Health Services, Female, Genome-Wide Association Study
Abstract

BackgroundInhaled corticosteroids (ICS) are the most widely prescribed and effective medication to control asthma symptoms and exacerbations. However, many children still have asthma exacerbations despite treatment, particularly in admixed populations, such as Puerto Ricans and African Americans. A few genome-wide association studies (GWAS) have been performed in European and Asian populations, and they have demonstrated the importance of the genetic component in ICS response.ObjectiveWe aimed to identify genetic variants associated with asthma exacerbations in admixed children treated with ICS and to validate previous GWAS findings.MethodsA meta-analysis of two GWAS of asthma exacerbations was performed in 1347 admixed children treated with ICS (Hispanics/Latinos and African Americans), analysing 8.7 million genetic variants. Those with P≤5×10-6 were followed up for replication in 1697 asthmatic patients from six European studies. Associations of ICS response described in published GWAS were followed up for replication in the admixed populations.ResultsA total of 15 independent variants were suggestively associated with asthma exacerbations in admixed populations (P≤5×10-6 ). One of them, located in the intergenic region of APOBEC3B and APOBEC3C, showed evidence of replication in Europeans (rs5995653, P=7.52×10-3 ) and was also associated with change in lung function after treatment with ICS (P=4.91×10-3 ). Additionally, the reported association of the L3MBTL4-ARHGAP28 genomic region was confirmed in admixed populations, although a different variant was identified.Conclusions and clinical relevanceThis study revealed the novel association of APOBEC3B and APOBEC3C with asthma exacerbations in children treated with ICS and replicated previously identified genomic regions. This contributes to the current knowledge about the multiple genetic markers determining responsiveness to ICS which could lead in the future the clinical identification of those asthma patients who are not able to respond to such treatment.

Published
2019

39. Genome-wide association study of inhaled corticosteroid response in admixed children with asthma

Author

Afd Pharmacoepi & Clinical Pharmacology, Pharmacoepidemiology and Clinical Pharmacology, Hernandez-Pacheco, Natalia, Farzan, Niloufar, Francis, Ben, Karimi, Leila, Repnik, Katja, Vijverberg, Susanne J, Soares, Patricia, Schieck, Maximilian, Gorenjak, Mario, Forno, Erick, Eng, Celeste, Oh, Sam S, Pérez-Méndez, Lina, Berce, Vojko, Tavendale, Roger, Samedy, Lesly-Anne, Hunstman, Scott, Hu, Donglei, Meade, Kelley, Farber, Harold J, Avila, Pedro C, Serebrisky, Denise, Thyne, Shannon M, Brigino-Buenaventura, Emerita, Rodriguez-Cintron, William, Sen, Saunak, Kumar, Rajesh, Lenoir, Michael, Rodriguez-Santana, Jose R, Celedón, Juan C, Mukhopadhyay, Somnath, Potočnik, Uroš, Pirmohamed, Munir, Verhamme, Katia M, Kabesch, Michael, Palmer, Colin N A, Hawcutt, Daniel B, Flores, Carlos, Maitland-van der Zee, Anke H, Burchard, Esteban G, Pino-Yanes, Maria, Afd Pharmacoepi & Clinical Pharmacology, Pharmacoepidemiology and Clinical Pharmacology, Hernandez-Pacheco, Natalia, Farzan, Niloufar, Francis, Ben, Karimi, Leila, Repnik, Katja, Vijverberg, Susanne J, Soares, Patricia, Schieck, Maximilian, Gorenjak, Mario, Forno, Erick, Eng, Celeste, Oh, Sam S, Pérez-Méndez, Lina, Berce, Vojko, Tavendale, Roger, Samedy, Lesly-Anne, Hunstman, Scott, Hu, Donglei, Meade, Kelley, Farber, Harold J, Avila, Pedro C, Serebrisky, Denise, Thyne, Shannon M, Brigino-Buenaventura, Emerita, Rodriguez-Cintron, William, Sen, Saunak, Kumar, Rajesh, Lenoir, Michael, Rodriguez-Santana, Jose R, Celedón, Juan C, Mukhopadhyay, Somnath, Potočnik, Uroš, Pirmohamed, Munir, Verhamme, Katia M, Kabesch, Michael, Palmer, Colin N A, Hawcutt, Daniel B, Flores, Carlos, Maitland-van der Zee, Anke H, Burchard, Esteban G, and Pino-Yanes, Maria

Published
2019

41. Meta-analysis of inhaled corticosteroids response in children with asthma

Author

Hernandez-Pacheco, Natalia, primary, Vijverberg, Susanne J, additional, Gorenjak, Mario, additional, Flores, Carlos, additional, Francis, Ben, additional, Farzan, Niloufar, additional, Corrales, Almudena, additional, Karimi, Leila, additional, Maroteau, Cyrielle, additional, Schieck, Maximilian, additional, Repnik, Katja, additional, Pérez-Méndez, Lina, additional, Soares, Patricia, additional, Berce, Vojko, additional, Tavendale, Roger, additional, Sardon, Olaia, additional, Corcuera, Paula, additional, Korta, Javier, additional, Mukhopadhyay, Somnath, additional, Pirmohamed, Munir, additional, Verhamme, Katia Mc, additional, Kabesch, Michael, additional, Hawcutt, Daniel B, additional, Turner, Steve, additional, Palmer, Colin N, additional, Potočnik, Uroš, additional, Maitland-Van Der Zee, Anke H, additional, and Pino-Yanes, Maria, additional

Published
2019
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44. Cover Image

Author

Hernandez‐Pacheco, Natalia, primary, Farzan, Niloufar, additional, Francis, Ben, additional, Karimi, Leila, additional, Repnik, Katja, additional, Vijverberg, Susanne J., additional, Soares, Patricia, additional, Schieck, Maximilian, additional, Gorenjak, Mario, additional, Forno, Erick, additional, Eng, Celeste, additional, Oh, Sam S., additional, Pérez‐Méndez, Lina, additional, Berce, Vojko, additional, Tavendale, Roger, additional, Samedy, Lesly‐Anne, additional, Hunstman, Scott, additional, Hu, Donglei, additional, Meade, Kelley, additional, Farber, Harold J., additional, Avila, Pedro C., additional, Serebrisky, Denise, additional, Thyne, Shannon M., additional, Brigino‐Buenaventura, Emerita, additional, Rodriguez‐Cintron, William, additional, Sen, Saunak, additional, Kumar, Rajesh, additional, Lenoir, Michael, additional, Rodriguez‐Santana, Jose R., additional, Celedón, Juan C., additional, Mukhopadhyay, Somnath, additional, Potočnik, Uroš, additional, Pirmohamed, Munir, additional, Verhamme, Katia M., additional, Kabesch, Michael, additional, Palmer, Colin N. A., additional, Hawcutt, Daniel B., additional, Flores, Carlos, additional, Maitland‐van der Zee, Anke H., additional, Burchard, Esteban G., additional, and Pino‐Yanes, Maria, additional

Published
2019
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45. Combined analysis of transcriptomic and genetic data for the identification of loci involved in glucocorticosteroid response in asthma.

Author

Hernandez‐Pacheco, Natalia, Gorenjak, Mario, Jurgec, Staša, Corrales, Almudena, Jorgensen, Andrea, Karimi, Leila, Vijverberg, Susanne J., Berce, Vojko, Schieck, Maximilian, Acosta‐Herrera, Marialbert, Kerick, Martin, Samedy‐Bates, Lesly‐Anne, Tavendale, Roger, Villar, Jesús, Mukhopadhyay, Somnath, Pirmohamed, Munir, Verhamme, Katia M. C., Kabesch, Michael, Hawcutt, Daniel B., and Turner, Steve

Subjects
ASTHMA, MONONUCLEAR leukocytes, FLUTICASONE propionate, COLLAGEN
Abstract

Differentially expressed genes in the discovery were examined to determine whether they also showed changes in peripheral blood mononuclear cells (PBMCs) obtained from ICS non-responders (n = 3) and ICS responders (n = 3) from the SLOVENIA study,4 defined based on the presence or absence of asthma exacerbations despite ICS therapy. Asthma treatment, childhood asthma, exacerbations, genetic polymorphism, pharmacogenomics Keywords: asthma treatment; childhood asthma; exacerbations; genetic polymorphism; pharmacogenomics EN asthma treatment childhood asthma exacerbations genetic polymorphism pharmacogenomics 1238 1243 6 04/14/21 20210401 NES 210401 To the Editor, An increasing number of therapies are available to treat asthma, but inhaled corticosteroids (ICS) are still the most commonly prescribed and effective controller asthma medication.1 Both environmental and genetic factors are involved in ICS response. Details about each study are described at the Supporting Information and elsewhere.4 Individuals with asthma exacerbations despite ICS treatment were considered as ICS non-responders and those without asthma exacerbations as ICS responders. [Extracted from the article]

Published
2021
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46. 17q21 variant increases the risk of exacerbations in asthmatic children despite inhaled corticosteroids use

Author

Farzan, Niloufar, Vijverberg, S.J.H. (Susanne), Hernandez-Pacheco, N., Bel, E.H., Berce, Vojko, Bønnelykke, K., Bisgaard, H. (Hans), Burchard, E.G. (Esteban), Canino, G., Celedón, Juan Carlos, Chew, Fook Tim, Chiang, W.C., Cloutier, M.M., Forno, Erick, Francis, Ben, Hawcutt, Daniel B., Herrera-Luis, E., Kabesch, M. (Michael), Karimi, L. (Leila), Melén, E., Mukhopadhyay, S., Merid, S.K. (Simon Kebede), Palmer, C.N.A. (Colin), Pino-Yanes, Maria, Pirmohamed, M. (Munir), Potočnik, Uros, Repnik, Katja, Schieck, Maximilian, Sevelsted, A. (Astrid), Sio, Y.Y., Smyth, Rosalind L., Soares, Patricia, Söderhäll, C. (Cilla), Tantisira, K.G., Tavendale, R. (Roger), Tse, Sze Man, Turner, S.W. (Steve), Verhamme, K.M.C. (Katia), Maitland-van der Zee, A-H. (Anke-Hilse), Farzan, Niloufar, Vijverberg, S.J.H. (Susanne), Hernandez-Pacheco, N., Bel, E.H., Berce, Vojko, Bønnelykke, K., Bisgaard, H. (Hans), Burchard, E.G. (Esteban), Canino, G., Celedón, Juan Carlos, Chew, Fook Tim, Chiang, W.C., Cloutier, M.M., Forno, Erick, Francis, Ben, Hawcutt, Daniel B., Herrera-Luis, E., Kabesch, M. (Michael), Karimi, L. (Leila), Melén, E., Mukhopadhyay, S., Merid, S.K. (Simon Kebede), Palmer, C.N.A. (Colin), Pino-Yanes, Maria, Pirmohamed, M. (Munir), Potočnik, Uros, Repnik, Katja, Schieck, Maximilian, Sevelsted, A. (Astrid), Sio, Y.Y., Smyth, Rosalind L., Soares, Patricia, Söderhäll, C. (Cilla), Tantisira, K.G., Tavendale, R. (Roger), Tse, Sze Man, Turner, S.W. (Steve), Verhamme, K.M.C. (Katia), and Maitland-van der Zee, A-H. (Anke-Hilse)

Abstract

_To the Editor,_ Approximately 25% of the asthmatic children suffer from uncontrolled asthma despite regular use of inhaled corticosteroids (ICS). Variation within the 17q21 locus is the strongest genetic determinant for childhood‐onset asthma. Recently, the influence of this locus on treatment outcomes has been shown in several studies. The Pharmacogenomics in Childhood Asthma (PiCA) consortium is a multiethnic consortium that brings together data from ≥14 000 asthmatic children/young adults from 12 different countries to study the pharmacogenomics of uncontrolled asthma despite treatment. In 14 PiCA populations (with over 4000 asthmatic patients), we studied the association between variation in the 17q21 locus, and asthma exacerbations despite ICS use. We specifically focused on rs7216389, a single nucleotide polymorphism (SNP) in the 17q21 locus strongly associated with childhood asthma and initially identified by Moffatt et al. [...]

Published
2018
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47. Genome-Wide Association Study of Asthma Exacerbations in European Children Treated with Inhaled Corticosteroids

Author

Vijverberg, Susanne JH, Hernandez-Pacheco, Natalia, Farzan, Niloufar, Francis, Ben, Flores, Carlos, Schieck, Maximilian, Soares, Patricia, Karimi, Leila, Tavendale, Roger, Berce, Vojko, Repnik, Katja, Verhamme, Katia MC, Potocnik, Uros, Mukhopadhyay, Somnath, Pirmohamed, Munir, Palmer, Colin N, Turner, Steve W, Hawcutt, Daniel B, Kabesch, Michael, Pino-Yanes, Maria, and Maitland-van der Zee, Anke-Hilse

Published
2017

49. Rationale and design of the multiethnic Pharmacogenomics in Childhood Asthma consortium

Author

Farzan, Niloufar, Vijverberg, Susanne J, Andiappan, Anand K, Arianto, Lambang, Berce, Vojko, Blanca-López, Natalia, Bisgaard, Hans, Bønnelykke, Klaus, Burchard, Esteban G, Campo, Paloma, Canino, Glorisa, Carleton, Bruce, Celedón, Juan C, Chew, Fook Tim, Chiang, Wen Chin, Cloutier, Michelle M, Daley, Denis, Den Dekker, Herman T, Dijk, F Nicole, Duijts, Liesbeth, Flores, Carlos, Forno, Erick, Hawcutt, Daniel B, Hernandez-Pacheco, Natalia, de Jongste, Johan C, Kabesch, Michael, Koppelman, Gerard H, Manolopoulos, Vangelis G, Melén, Erik, Mukhopadhyay, Somnath, Nilsson, Sara, Palmer, Colin N, Pino-Yanes, Maria, Pirmohamed, Munir, Potočnik, Uros, Raaijmakers, Jan A, Repnik, Katja, Schieck, Maximilian, Sio, Yang Yie, Smyth, Rosalind L, Szalai, Csaba, Tantisira, Kelan G, Turner, Steve, van der Schee, Marc P, Verhamme, Katia M, Maitland-van der Zee, Anke H, Farzan, Niloufar, Vijverberg, Susanne J, Andiappan, Anand K, Arianto, Lambang, Berce, Vojko, Blanca-López, Natalia, Bisgaard, Hans, Bønnelykke, Klaus, Burchard, Esteban G, Campo, Paloma, Canino, Glorisa, Carleton, Bruce, Celedón, Juan C, Chew, Fook Tim, Chiang, Wen Chin, Cloutier, Michelle M, Daley, Denis, Den Dekker, Herman T, Dijk, F Nicole, Duijts, Liesbeth, Flores, Carlos, Forno, Erick, Hawcutt, Daniel B, Hernandez-Pacheco, Natalia, de Jongste, Johan C, Kabesch, Michael, Koppelman, Gerard H, Manolopoulos, Vangelis G, Melén, Erik, Mukhopadhyay, Somnath, Nilsson, Sara, Palmer, Colin N, Pino-Yanes, Maria, Pirmohamed, Munir, Potočnik, Uros, Raaijmakers, Jan A, Repnik, Katja, Schieck, Maximilian, Sio, Yang Yie, Smyth, Rosalind L, Szalai, Csaba, Tantisira, Kelan G, Turner, Steve, van der Schee, Marc P, Verhamme, Katia M, and Maitland-van der Zee, Anke H

Abstract

AIM: International collaboration is needed to enable large-scale pharmacogenomics studies in childhood asthma. Here, we describe the design of the Pharmacogenomics in Childhood Asthma (PiCA) consortium.MATERIALS & METHODS: Investigators of each study participating in PiCA provided data on the study characteristics by answering an online questionnaire.RESULTS: A total of 21 studies, including 14,227 children/young persons (58% male), from 12 different countries are currently enrolled in the PiCA consortium. Fifty six percent of the patients are Caucasians. In total, 7619 were inhaled corticosteroid users. Among patients from 13 studies with available data on asthma exacerbations, a third reported exacerbations despite inhaled corticosteroid use. In the future pharmacogenomics studies within the consortium, the pharmacogenomics analyses will be performed separately in each center and the results will be meta-analyzed.CONCLUSION: PiCA is a valuable platform to perform pharmacogenetics studies within a multiethnic pediatric asthma population.

Published
2017

50. Genome-wide association study of inhaled corticosteroid response in African-admixed children with asthma

Author

Hernandez-Pacheco, Natalia, primary, Farzan, Niloufar, additional, Vijverberg, Susanne J, additional, Francis, Ben, additional, Schieck, Maximilian, additional, Pirmohamed, Munir, additional, Berce, Vojko, additional, Repnik, Katja, additional, Potočnik, Uroš, additional, Hawcutt, Daniel B, additional, Kabesch, Michael, additional, Palmer, Colin, additional, Flores, Carlos, additional, Maitland-van der Zee, Anke H, additional, Burchard, Esteban G, additional, and Pino-Yanes, Maria, additional

Published
2017
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