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1. Sex-specific analysis in Behçet's disease reveals higher genetic risk in male patients

Author

Jo, Yun Gun, Ortiz-Fernández, Lourdes, Coit, Patrick, Yilmaz, Vuslat, Yentür, Sibel P., Alibaz-Oner, Fatma, Aksu, Kenan, Erken, Eren, Düzgün, Nursen, Keser, Gokhan, Cefle, Ayse, Yazici, Ayten, Ergen, Andac, Alpsoy, Erkan, Salvarani, Carlo, Kısacık, Bünyamin, Kötter, Ina, Henes, Jörg, Çınar, Muhammet, Schaefer, Arne, Nohutcu, Rahime M., Takeuchi, Fujio, Harihara, Shinji, Kaburaki, Toshikatsu, Messedi, Meriam, Song, Yeong-Wook, Kaşifoğlu, Timuçin, Martin, Javier, González Escribano, María Francisca, Saruhan-Direskeneli, Güher, Direskeneli, Haner, and Sawalha, Amr H.

Published
2022
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2. Automated Electronic Health Record Data Extraction and Curation Using ExtractEHR.

Author

Miller, Tamara P., Getz, Kelly D., Krause, Edward, Jo, Yun Gun, Charapala, Sandhya, Gramatages, M. Monica, Rabin, Karen, Scheurer, Michael E., Wilkes, Jennifer J., Fisher, Brian T., and Aplenc, Richard

Subjects
CHILDREN'S hospitals, ELECTRONIC health records, PEDIATRIC oncology, RESEARCH questions, CHILDHOOD cancer
Abstract

PURPOSE: Although the potential transformative effect of electronic health record (EHR) data on clinical research in adult patient populations has been very extensively discussed, the effect on pediatric oncology research has been limited. Multiple factors contribute to this more limited effect, including the paucity of pediatric cancer cases in commercial EHR-derived cancer data sets and phenotypic case identification challenges in pediatric federated EHR data. METHODS: The ExtractEHR software package was initially developed as a tool to improve clinical trial adverse event reporting but has expanded its use cases to include the development of multisite EHR data sets and the support of cancer cohorts. ExtractEHR enables customized, automated data extraction from the EHR that, when implemented across multiple hospitals, can create pediatric cancer EHR data sets to address a very wide range of research questions in pediatric oncology. After ExtractEHR data acquisition, EHR data can be cleaned and graded using CleanEHR and GradeEHR, companion software packages. RESULTS: ExtractEHR has been installed at four leading pediatric institutions: Children's Healthcare of Atlanta, Children's Hospital of Philadelphia, Texas Children's Hospital, and Seattle Children's Hospital. CONCLUSION: ExtractEHR has supported multiple use cases, including five clinical epidemiology studies, multicenter clinical trials, and cancer cohort assembly. Work is ongoing to develop Fast Health care Interoperability Resources ExtractEHR and implement other sustainability and scalability enhancements. [ABSTRACT FROM AUTHOR]

Published
2024
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3. Sex-specific analysis in Behçet's disease reveals higher genetic risk in male patients

Author

National Institute of Arthritis and Musculoskeletal and Skin Diseases (US), Jo, Yun Gun, Ortiz-Fernández, Lourdes, Coit, Patrick, Yilmaz, Vuslat, Yentür, Sibel P., Alibaz-Oner, Fatma, Aksu, Kenan, Erken, Eren, Düzgün, Nursen, Keser, Gokhan, Cefle, Ayse, Yazici, Ayten, Ergen, Andac, Alpsoy, Erkan, Salvarani, Carlo, Kısacık, Bünyamin, Kötter, Ina, Henes, Jörg, Çınar, Muhammet, Schaefer, Arne, Nohutcu, Rahime M., Takeuchi, Fujio, Harihara, Shinji, Kaburaki, Toshikatsu, Messedi, Meriam, Song, Yeong-Wook, Kaşifoğlu, Timuçin, Martin, Javier, González-Escribano, María Francisca, Saruhan-Direskeneli, Güher, Direskeneli, Haner, Sawalha, Amr H., National Institute of Arthritis and Musculoskeletal and Skin Diseases (US), Jo, Yun Gun, Ortiz-Fernández, Lourdes, Coit, Patrick, Yilmaz, Vuslat, Yentür, Sibel P., Alibaz-Oner, Fatma, Aksu, Kenan, Erken, Eren, Düzgün, Nursen, Keser, Gokhan, Cefle, Ayse, Yazici, Ayten, Ergen, Andac, Alpsoy, Erkan, Salvarani, Carlo, Kısacık, Bünyamin, Kötter, Ina, Henes, Jörg, Çınar, Muhammet, Schaefer, Arne, Nohutcu, Rahime M., Takeuchi, Fujio, Harihara, Shinji, Kaburaki, Toshikatsu, Messedi, Meriam, Song, Yeong-Wook, Kaşifoğlu, Timuçin, Martin, Javier, González-Escribano, María Francisca, Saruhan-Direskeneli, Güher, Direskeneli, Haner, and Sawalha, Amr H.

Abstract

[Objectives] Behçet's disease tends to be more severe in men than women. This study was undertaken to investigate sex-specific genetic effects in Behçet's disease., [Methods] A total of 1762 male and 1216 female patients with Behçet's disease from six diverse populations were studied, with the majority of patients of Turkish origin. Genotyping was performed using an Infinium ImmunoArray-24 BeadChip, or extracted from available genotyping data. Following imputation and extensive quality control measures, genome-wide association analysis was performed comparing male to female patients in the Turkish cohort, followed by a meta-analysis of significant results in all six populations. In addition, a weighted genetic risk score for Behçet's disease was calculated and compared between male and female patients., [Results] Genetic association analysis comparing male to female patients with Behçet's disease from Turkey revealed an association with male sex in HLA-B/MICA within the HLA region with a GWAS level of significance (rs2848712, OR = 1.46, P = 1.22 × 10−8). Meta-analysis of the effect in rs2848712 across six populations confirmed these results. Genetic risk score for Behçet's disease was significantly higher in male compared to female patients from Turkey. Higher genetic risk for Behçet's disease was observed in male patients in HLA-B/MICA (rs116799036, OR = 1.45, P = 1.95 × 10−8), HLA-C (rs12525170, OR = 1.46, P = 5.66 × 10−7), and KLRC4 (rs2617170, OR = 1.20, P = 0.019). In contrast, IFNGR1 (rs4896243, OR = 0.86, P = 0.011) was shown to confer higher genetic risk in female patients., [Conclusions] Male patients with Behçet's disease are characterized by higher genetic risk compared to female patients. This genetic difference, primarily derived from our Turkish cohort, is largely explained by risk within the HLA region. These data suggest that genetic factors might contribute to differences in disease presentation between men and women with Behçet's disease.

Published
2022

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