Proteome profiling of early gestational plasma reveals novel biomarkers of congenital heart disease
Abstract Prenatal diagnosis of congenital heart disease (CHD) relies primarily on fetal echocardiography conducted at mid‐gestational age—the sensitivity of which varies among centers and practitioners. An objective method for early diagnosis is needed. Here, we conducted a case–control study recrui...
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| Format: | Article |
| Language: | English |
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Springer Nature
2023-10-01
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| Series: | EMBO Molecular Medicine |
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| Online Access: | https://doi.org/10.15252/emmm.202317745 |
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| author | Ya‐Nan Yin Li Cao Jie Wang Yu‐Ling Chen Hai‐Ou Yang Su‐Bei Tan Ke Cai Zhe‐Qi Chen Jie Xiang Yuan‐Xin Yang Hao‐Ran Geng Ze‐Yu Zhou An‐Na Shen Xiang‐Yu Zhou Yan Shi Rui Zhao Kun Sun Chen Ding Jian‐Yuan Zhao |
| author_facet | Ya‐Nan Yin Li Cao Jie Wang Yu‐Ling Chen Hai‐Ou Yang Su‐Bei Tan Ke Cai Zhe‐Qi Chen Jie Xiang Yuan‐Xin Yang Hao‐Ran Geng Ze‐Yu Zhou An‐Na Shen Xiang‐Yu Zhou Yan Shi Rui Zhao Kun Sun Chen Ding Jian‐Yuan Zhao |
| author_sort | Ya‐Nan Yin |
| collection | DOAJ |
| description | Abstract Prenatal diagnosis of congenital heart disease (CHD) relies primarily on fetal echocardiography conducted at mid‐gestational age—the sensitivity of which varies among centers and practitioners. An objective method for early diagnosis is needed. Here, we conducted a case–control study recruiting 103 pregnant women with healthy offspring and 104 cases with CHD offspring, including VSD (42/104), ASD (20/104), and other CHD phenotypes. Plasma was collected during the first trimester and proteomic analysis was performed. Principal component analysis revealed considerable differences between the controls and the CHDs. Among the significantly altered proteins, 25 upregulated proteins in CHDs were enriched in amino acid metabolism, extracellular matrix receptor, and actin skeleton regulation, whereas 49 downregulated proteins were enriched in carbohydrate metabolism, cardiac muscle contraction, and cardiomyopathy. The machine learning model reached an area under the curve of 0.964 and was highly accurate in recognizing CHDs. This study provides a highly valuable proteomics resource to better recognize the cause of CHD and has developed a reliable objective method for the early recognition of CHD, facilitating early intervention and better prognosis. |
| format | Article |
| id | doaj-art-dd907fbfb8884880b6fe567f4638334e |
| institution | Kabale University |
| issn | 1757-4676 1757-4684 |
| language | English |
| publishDate | 2023-10-01 |
| publisher | Springer Nature |
| record_format | Article |
| series | EMBO Molecular Medicine |
| spelling | doaj-art-dd907fbfb8884880b6fe567f4638334e2025-08-20T03:43:20ZengSpringer NatureEMBO Molecular Medicine1757-46761757-46842023-10-01151211610.15252/emmm.202317745Proteome profiling of early gestational plasma reveals novel biomarkers of congenital heart diseaseYa‐Nan Yin0Li Cao1Jie Wang2Yu‐Ling Chen3Hai‐Ou Yang4Su‐Bei Tan5Ke Cai6Zhe‐Qi Chen7Jie Xiang8Yuan‐Xin Yang9Hao‐Ran Geng10Ze‐Yu Zhou11An‐Na Shen12Xiang‐Yu Zhou13Yan Shi14Rui Zhao15Kun Sun16Chen Ding17Jian‐Yuan Zhao18Institute for Developmental and Regenerative Cardiovascular Medicine, MOE‐Shanghai Key Laboratory of Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of MedicineNational Health Commission (NHC) Key Laboratory of Neonatal Diseases, School of Life Sciences, Obstetrics and Gynecology Hospital of Fudan University, Children's Hospital of Fudan University, Fudan UniversityNational Health Commission (NHC) Key Laboratory of Neonatal Diseases, School of Life Sciences, Obstetrics and Gynecology Hospital of Fudan University, Children's Hospital of Fudan University, Fudan UniversityInstitute for Developmental and Regenerative Cardiovascular Medicine, MOE‐Shanghai Key Laboratory of Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of MedicineInternational Peace Maternity and Child Health Hospital of China Welfare Institute, Shanghai Jiao Tong University School of MedicineState Key Laboratory of Genetic Engineering and Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Institutes of Biomedical Sciences, Human Phenome Institute, Zhongshan Hospital, Fudan UniversityInstitute for Developmental and Regenerative Cardiovascular Medicine, MOE‐Shanghai Key Laboratory of Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of MedicineInstitute for Developmental and Regenerative Cardiovascular Medicine, MOE‐Shanghai Key Laboratory of Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of MedicineInstitute for Developmental and Regenerative Cardiovascular Medicine, MOE‐Shanghai Key Laboratory of Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of MedicineInstitute for Developmental and Regenerative Cardiovascular Medicine, MOE‐Shanghai Key Laboratory of Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of MedicineInstitute for Developmental and Regenerative Cardiovascular Medicine, MOE‐Shanghai Key Laboratory of Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of MedicineInstitute for Developmental and Regenerative Cardiovascular Medicine, MOE‐Shanghai Key Laboratory of Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of MedicineInstitute for Developmental and Regenerative Cardiovascular Medicine, MOE‐Shanghai Key Laboratory of Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of MedicineNational Health Commission (NHC) Key Laboratory of Neonatal Diseases, School of Life Sciences, Obstetrics and Gynecology Hospital of Fudan University, Children's Hospital of Fudan University, Fudan UniversityInstitute for Developmental and Regenerative Cardiovascular Medicine, MOE‐Shanghai Key Laboratory of Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of MedicineInstitute for Developmental and Regenerative Cardiovascular Medicine, MOE‐Shanghai Key Laboratory of Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of MedicineInstitute for Developmental and Regenerative Cardiovascular Medicine, MOE‐Shanghai Key Laboratory of Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of MedicineState Key Laboratory of Genetic Engineering and Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Institutes of Biomedical Sciences, Human Phenome Institute, Zhongshan Hospital, Fudan UniversityInstitute for Developmental and Regenerative Cardiovascular Medicine, MOE‐Shanghai Key Laboratory of Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of MedicineAbstract Prenatal diagnosis of congenital heart disease (CHD) relies primarily on fetal echocardiography conducted at mid‐gestational age—the sensitivity of which varies among centers and practitioners. An objective method for early diagnosis is needed. Here, we conducted a case–control study recruiting 103 pregnant women with healthy offspring and 104 cases with CHD offspring, including VSD (42/104), ASD (20/104), and other CHD phenotypes. Plasma was collected during the first trimester and proteomic analysis was performed. Principal component analysis revealed considerable differences between the controls and the CHDs. Among the significantly altered proteins, 25 upregulated proteins in CHDs were enriched in amino acid metabolism, extracellular matrix receptor, and actin skeleton regulation, whereas 49 downregulated proteins were enriched in carbohydrate metabolism, cardiac muscle contraction, and cardiomyopathy. The machine learning model reached an area under the curve of 0.964 and was highly accurate in recognizing CHDs. This study provides a highly valuable proteomics resource to better recognize the cause of CHD and has developed a reliable objective method for the early recognition of CHD, facilitating early intervention and better prognosis.https://doi.org/10.15252/emmm.202317745congenital heart diseaseplasmaproteomics gestational |
| spellingShingle | Ya‐Nan Yin Li Cao Jie Wang Yu‐Ling Chen Hai‐Ou Yang Su‐Bei Tan Ke Cai Zhe‐Qi Chen Jie Xiang Yuan‐Xin Yang Hao‐Ran Geng Ze‐Yu Zhou An‐Na Shen Xiang‐Yu Zhou Yan Shi Rui Zhao Kun Sun Chen Ding Jian‐Yuan Zhao Proteome profiling of early gestational plasma reveals novel biomarkers of congenital heart disease EMBO Molecular Medicine congenital heart disease plasma proteomics gestational |
| title | Proteome profiling of early gestational plasma reveals novel biomarkers of congenital heart disease |
| title_full | Proteome profiling of early gestational plasma reveals novel biomarkers of congenital heart disease |
| title_fullStr | Proteome profiling of early gestational plasma reveals novel biomarkers of congenital heart disease |
| title_full_unstemmed | Proteome profiling of early gestational plasma reveals novel biomarkers of congenital heart disease |
| title_short | Proteome profiling of early gestational plasma reveals novel biomarkers of congenital heart disease |
| title_sort | proteome profiling of early gestational plasma reveals novel biomarkers of congenital heart disease |
| topic | congenital heart disease plasma proteomics gestational |
| url | https://doi.org/10.15252/emmm.202317745 |
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