A systematic review of genetic association studies on the susceptibility of preterm birth in Asia

Dec 30, 2025Molecular genetics and genomics : MGG

Genetic links to risk of preterm birth in Asian populations: a review

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Abstract

Sixteen studies focusing on 37 gene polymorphisms across 25 genes were included in the review of preterm birth mechanisms.

Genetic variants were associated with factors influencing preterm birth, such as inflammation and immune responses.
The studies were conducted among various Asian ethnic groups, indicating potential genetic diversity in PTB susceptibility.
No meta-analysis was performed due to variability in study designs and outcomes.
Quality assessment of included studies was conducted using the Q-Genie tool, ensuring reliability of findings.
The review underscores the need for further exploration of candidate genes and their interactions related to preterm birth.

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Preterm birth (PTB) is a leading cause of prenatal and infant mortality and morbidity, yet its molecular mechanisms remain poorly understood. This systematic review aims to enhance understanding of PTB's molecular genetics and to identify potential biomarkers and therapeutic targets by comprehensively analyzing genetic association studies conducted among Asian populations. A systematic search was performed across six online databases, including Google Scholar, Science Direct, Clinical Trials, PubMed, Cochrane, and MyCite, using a combined search strategy of PTB, gene polymorphisms, and Asia (PROSPERO protocol: CRD42023458957). Peer-reviewed articles focusing on the effects of genetic association on labor progression in the Asian population were included. Subsequently, data extraction encompassing study design, demographics, genetic determinants, and effect estimates were collected. Quality assessment was conducted for each study using the Quality of Genetic Association Studies (Q-Genie) tool. Due to heterogeneity among study designs, genetic variants, and reported outcomes, a meta-analysis was not performed; instead, a systematic narrative synthesis was conducted. Out of 2,412 screened articles, 16 met the inclusion criteria and passed the Q-Genie quality assessment. These studies collectively investigated 37 polymorphisms within 25 genes across various Asian ethnic groups. These genes exhibited associations with various aspects of PTB, shedding light on the roles of innate immune responses, inflammation, myometrial quiescence, oxidative stress, and uteroplacental blood flow in PTB pathogenesis. This review highlights the role of genetics role in PTB susceptibility across Asian populations and the need to explore candidate genes and their interactions to uncover the underlying molecular mechanisms.

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A systematic review of genetic association studies on the susceptibility of preterm birth in Asia

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