Genetic analyses of 104 phenotypes in 20,900 Chinese pregnant women reveal pregnancy-specific discoveries
Monitoring biochemical phenotypes during pregnancy is vital for maternal and fetal health, allowing early detection and management of pregnancy-related conditions to ensure safety for both. Here, we conducted a genetic analysis of 104 pregnancy phenotypes in 20,900 Chinese women. The genome-wide association study (GWAS) identified a total of 410 trait-locus associations, with 71.71% reported previously. Among the 116 novel hits for 45 phenotypes, 83 were successfully replicated. Among them, 31 were defined as potentially pregnancy-specific associations, including creatine and HELLPAR and neutrophils and ESR1, with subsequent analysis revealing enrichments in estrogen-related pathways and female reproductive tissues. The partitioning heritability underscored the significant roles of fetal blood, embryoid bodies, and female reproductive organs in pregnancy hematology and birth outcomes. Pathway analysis confirmed the intricate interplay of hormone and immune regulation, metabolism, and cell cycle during pregnancy. This study contributes to the understanding of genetic influences on pregnancy phenotypes and their implications for maternal health.
Authors
- Huanming Yang (ORCID: https://orcid.org/0000-0002-0858-3410)
- Meng Yang (ORCID: https://orcid.org/0000-0002-1466-0769)
- Rui Zhou (ORCID: https://orcid.org/0000-0002-7903-9965)
- Jingyu Zeng (ORCID: https://orcid.org/0000-0002-9089-3126)
- Aifen Zhou (ORCID: https://orcid.org/0000-0002-1291-4155)
- Fengxia Su (ORCID: https://orcid.org/0000-0003-0724-6284)
- Yu‐Shan Huang (ORCID: https://orcid.org/0000-0002-9047-5709)
- Zhongqiang Cao (ORCID: https://orcid.org/0000-0003-4315-7588)
- Jieqiong Zhou (ORCID: https://orcid.org/0000-0002-4453-8481)
- Linxuan Li (ORCID: https://orcid.org/0000-0002-7920-4684)
- Jiuying Liu
- Yan Zhou (ORCID: https://orcid.org/0000-0003-0347-0027)
- Yunqing Zhu (ORCID: https://orcid.org/0000-0003-1309-3499)
- Liqin Hu (ORCID: https://orcid.org/0000-0002-1284-7271)
- Xiao Han (ORCID: https://orcid.org/0000-0001-9262-7254)
- Xiaonan Cai
- Xianmei Lan
- Panhong Liu
- Xin Jin (ORCID: https://orcid.org/0000-0001-7554-4975)
- Ying Lin (ORCID: https://orcid.org/0000-0002-3285-8787)
- Xinyi Zhang (ORCID: https://orcid.org/0009-0004-2973-7046)
- Xiaoqian Zhang (ORCID: https://orcid.org/0000-0001-5636-7950)
- Xun Xu (ORCID: https://orcid.org/0000-0002-5338-5173)
- Canqing Yu (ORCID: https://orcid.org/0000-0002-0019-0014)
- Mingzhi Cai (ORCID: https://orcid.org/0009-0003-4043-9640)
- Hong Mei (ORCID: https://orcid.org/0000-0002-8266-7073)
- Ye Tao (ORCID: https://orcid.org/0000-0002-4887-7990)
- Yuanyuan Zhong (ORCID: https://orcid.org/0000-0002-9609-1626)
- Huanhuan Zhu (ORCID: https://orcid.org/0000-0002-9833-2665)
- Ya Gao
- Jian Wang (ORCID: https://orcid.org/0009-0004-4420-1928)
- Yu Wang (ORCID: https://orcid.org/0000-0003-1286-2401)
- Lin Wang (ORCID: https://orcid.org/0000-0003-3033-4792)
Institutions
- BGI Group (China) (CN)
- Guizhou University (CN)
- Peking University (CN)
- North West Agriculture and Forestry University (CN)
- Wuhan Children's Hospital (CN)
- University of Chinese Academy of Sciences (CN)
- BGI Research (CN)
- Huazhong University of Science and Technology (CN)
Publication Details
- Journal
- Cell Genomics
- Published
- 2024-10-01
- DOI
- https://doi.org/10.1016/j.xgen.2024.100633
- Citations
- 11
- Primary Topic
- Genetic Associations and Epidemiology
- Type
- article
- Field-Weighted Citation Impact
- 6.05
Funders
- National Natural Science Foundation of China