Maternal genetic risk factors for spontaneous preterm birth: a systematic review and meta-analysis

荟萃分析 优势比 多重比较问题 遗传关联 置信区间 遗传模型 SNP公司 选择(遗传算法) 等位基因 遗传学 生物 医学 基因 单核苷酸多态性 基因型 内科学 统计 人工智能 数学 计算机科学
作者
Tea Mladenić,Anita Barišić,Nina Pereza,Saša Ostojić,Borut Peterlin,Sanja Dević Pavlić
出处
期刊:Authorea - Authorea 被引量:1
标识
DOI:10.22541/au.171348884.41472038/v1
摘要

Background: Despite various genomic approaches used in prior studies investigating association of maternal genetic variability with spontaneous preterm birth (sPTB), results show inconsistency and contradictions. Objectives: To: conduct a systematic review of studies analysing the association between maternal genetic variants and sPTB; evaluate retrieved studies based on selection criteria; classify studies into hypothesis-based and hypothesis-free; perform a meta-analysis to identify the strongest associations. Search Strategy: PubMed, Scopus and reference lists were searched until October 2023. Selection Criteria: English-language case-control, cross-sectional and prospective cohort studies examining the association between maternal genetic variations and sPTB were included. Data collection and Analysis: Data on authors, publication year, ethnicity, genes/variants, P-values, study type, sample size, inclusion criteria and methods were collected. The association strength was estimated using odds ratios with 95% confidence intervals. Main Results: 81 studies met eligibility criteria: 72 utilized a hypothesis-based and 9 a hypothesis-free approach. 34 studies qualified for a meta-analysis revealing a significant association in TNF-α (rs1800629) gene for alleles, additive and recessive genetic models (P<0.05). From the hypothesis-free approach, 7 variants in 5 genes (EBF1, EESEC, HSPA1L, ASTN1, MAST1) reached global significance (P < 5 x10 -8). Conclusions: No specific genes or variants were clearly associated with the risk of sPTB. Among hypothesis-based studies, limited gene overlap indicates inconsistent SNP associations. TNF-α (rs1800629) emerges as the only with a modest signal for future analyses. Additional 5 genes from the hypothesis-free approach showed a globally significant association. Funding: / Keywords: Preterm Birth, Genetic Association Study, Genome-Wide Association Study, Exome Sequencing
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