The Born in Guangzhou Cohort Study has led to significant genetic discoveries that could impact the understanding of genetics and environment on human health. The study, which focuses on large-scale, prospective birth cohorts, is a crucial strategy for understanding the influence of genetics and environment on human health, especially in Asia.

The phase I genome study of the Born in Guangzhou Cohort Study (BIGCS) involved the sequencing and analysis of 4,053 Chinese individuals, primarily composed of trios or mother–infant duos residing in South China. The analysis revealed novel genetic variants, a high-quality reference panel, and fine-scale local genetic structure within BIGCS. Notably, previously unreported East Asian-specific genetic associations with maternal total bile acid, gestational weight gain, and infant cord blood traits were identified. Additionally, prevalent age-specific genetic effects on lipid levels in mothers and infants were observed.

In an exploratory intergenerational Mendelian randomization analysis, the study estimated the maternal putatively causal and fetal genetic effects of seven adult phenotypes on seven fetal growth-related measurements. These findings shed light on the genetic links between maternal and early-life traits in an East Asian population and lay the groundwork for future research into the intricate interplay of genetics, intrauterine exposures, and early-life experiences in shaping long-term health.

The release of the raw sequencing data by this work is approved by The Ministry of Science and Technology of the People’s Republic of China (permission number 2022BAT2230) at the National Genomics Data Center (https://ngdc.cncb.ac.cn) (accession number HRA002496). Data can be accessed via applications, following the GSA guide (http