Genome-wide association analysis of cystatin c and creatinine kidney function in Chinese women
Abstract Background With increasing incidence and treatment costs, chronic kidney disease (CKD) has become an important public health problem in China, especially in females. However, the genetic determinants are very limited. The estimated glomerular filtration rate (eGFR) based on creatinine is co...
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2024-11-01
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| Series: | BMC Medical Genomics |
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| Online Access: | https://doi.org/10.1186/s12920-024-02048-6 |
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| author | Yang Cai Hongyao Lv Meng Yuan Jiao Wang Wenhui Wu Xiaoyu Fang Changying Chen Jialing Mu Fangyuan Liu Xincheng Gu Hankun Xie Yu Liu Haifeng Xu Yao Fan Chong Shen Xiangyu Ma |
| author_facet | Yang Cai Hongyao Lv Meng Yuan Jiao Wang Wenhui Wu Xiaoyu Fang Changying Chen Jialing Mu Fangyuan Liu Xincheng Gu Hankun Xie Yu Liu Haifeng Xu Yao Fan Chong Shen Xiangyu Ma |
| author_sort | Yang Cai |
| collection | DOAJ |
| description | Abstract Background With increasing incidence and treatment costs, chronic kidney disease (CKD) has become an important public health problem in China, especially in females. However, the genetic determinants are very limited. The estimated glomerular filtration rate (eGFR) based on creatinine is commonly used as a measure of renal function but can be easily affected by other factors. In contrast, eGFR based on both creatinine and cystatin C (eGFRcr-cys) improved the diagnostic accuracy of CKD. To our knowledge, no genome-wide association analysis of eGFRcr-cys has been conducted in the Chinese population. Methods By conducting a Genome-Wide association study(GWAS), a method used to identify associations between genetic regions (genomes) and traits/diseases, we examined the relationship between genetic factors and eGFRcr-cys in Chinese women, with 1983 participants and 3,838,121 variants included in the final analysis. Result One significant locus (20p11.21) was identified in the Chinese female population, which has been reported to be associated with eGFR based on cystatin C (eGFRcys) in the European population. More importantly, we found two new suggestive loci (1p31.1 and 11q24.2), which have not yet been reported. A total of three single nucleotide polymorphisms were identified as the most important variants in these regions, including rs2405367 (CST3), rs66588571(KRT8P21), and rs626995 (OR8B2). Conclusion We identified 3 loci 20p11.21, 1p31.1, and 11q24.2 to be significantly associated with eGFRcr-cys. These findings and subsequent functional analysis describe new biological clues related to renal function in Chinese women and provide new ideas for the diagnosis and treatment development of CKD. |
| format | Article |
| id | doaj-art-a1f91b7c5a824511b38989d9e23653cf |
| institution | Kabale University |
| issn | 1755-8794 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genomics |
| spelling | doaj-art-a1f91b7c5a824511b38989d9e23653cf2024-11-24T12:47:01ZengBMCBMC Medical Genomics1755-87942024-11-011711810.1186/s12920-024-02048-6Genome-wide association analysis of cystatin c and creatinine kidney function in Chinese womenYang Cai0Hongyao Lv1Meng Yuan2Jiao Wang3Wenhui Wu4Xiaoyu Fang5Changying Chen6Jialing Mu7Fangyuan Liu8Xincheng Gu9Hankun Xie10Yu Liu11Haifeng Xu12Yao Fan13Chong Shen14Xiangyu Ma15College of Public Health, Southwest Medical UniversityDepartment of Epidemiology, College of Preventive Medicine, Third Military Medical University (Army Medical University)Department of Epidemiology, College of Preventive Medicine, Third Military Medical University (Army Medical University)Department of Epidemiology, College of Preventive Medicine, Third Military Medical University (Army Medical University)Department of Epidemiology, College of Preventive Medicine, Third Military Medical University (Army Medical University)Department of Epidemiology, College of Preventive Medicine, Third Military Medical University (Army Medical University)Department of Epidemiology, School of Public Health, Nanjing Medical UniversityDepartment of Epidemiology, School of Public Health, Nanjing Medical UniversityDepartment of Epidemiology, School of Public Health, Nanjing Medical UniversityDepartment of Epidemiology, School of Public Health, Nanjing Medical UniversityDepartment of Epidemiology, School of Public Health, Nanjing Medical UniversityInstitute for the prevention and control of chronic non-communicable diseases, Center for Disease Control and Prevention of Jurong CityInstitute for the prevention and control of chronic non-communicable diseases, Center for Disease Control and Prevention of Jurong CityDepartment of Clinical Epidemiology, Geriatric Hospital of Nanjing Medical UniversityDepartment of Epidemiology, School of Public Health, Nanjing Medical UniversityCollege of Public Health, Southwest Medical UniversityAbstract Background With increasing incidence and treatment costs, chronic kidney disease (CKD) has become an important public health problem in China, especially in females. However, the genetic determinants are very limited. The estimated glomerular filtration rate (eGFR) based on creatinine is commonly used as a measure of renal function but can be easily affected by other factors. In contrast, eGFR based on both creatinine and cystatin C (eGFRcr-cys) improved the diagnostic accuracy of CKD. To our knowledge, no genome-wide association analysis of eGFRcr-cys has been conducted in the Chinese population. Methods By conducting a Genome-Wide association study(GWAS), a method used to identify associations between genetic regions (genomes) and traits/diseases, we examined the relationship between genetic factors and eGFRcr-cys in Chinese women, with 1983 participants and 3,838,121 variants included in the final analysis. Result One significant locus (20p11.21) was identified in the Chinese female population, which has been reported to be associated with eGFR based on cystatin C (eGFRcys) in the European population. More importantly, we found two new suggestive loci (1p31.1 and 11q24.2), which have not yet been reported. A total of three single nucleotide polymorphisms were identified as the most important variants in these regions, including rs2405367 (CST3), rs66588571(KRT8P21), and rs626995 (OR8B2). Conclusion We identified 3 loci 20p11.21, 1p31.1, and 11q24.2 to be significantly associated with eGFRcr-cys. These findings and subsequent functional analysis describe new biological clues related to renal function in Chinese women and provide new ideas for the diagnosis and treatment development of CKD.https://doi.org/10.1186/s12920-024-02048-6Genome‑wide association studyChronic kidney diseaseCystatin-CEstimated glomerular filtration rate |
| spellingShingle | Yang Cai Hongyao Lv Meng Yuan Jiao Wang Wenhui Wu Xiaoyu Fang Changying Chen Jialing Mu Fangyuan Liu Xincheng Gu Hankun Xie Yu Liu Haifeng Xu Yao Fan Chong Shen Xiangyu Ma Genome-wide association analysis of cystatin c and creatinine kidney function in Chinese women BMC Medical Genomics Genome‑wide association study Chronic kidney disease Cystatin-C Estimated glomerular filtration rate |
| title | Genome-wide association analysis of cystatin c and creatinine kidney function in Chinese women |
| title_full | Genome-wide association analysis of cystatin c and creatinine kidney function in Chinese women |
| title_fullStr | Genome-wide association analysis of cystatin c and creatinine kidney function in Chinese women |
| title_full_unstemmed | Genome-wide association analysis of cystatin c and creatinine kidney function in Chinese women |
| title_short | Genome-wide association analysis of cystatin c and creatinine kidney function in Chinese women |
| title_sort | genome wide association analysis of cystatin c and creatinine kidney function in chinese women |
| topic | Genome‑wide association study Chronic kidney disease Cystatin-C Estimated glomerular filtration rate |
| url | https://doi.org/10.1186/s12920-024-02048-6 |
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