社会经济地位与先天性畸形之间的关系：一项双样本孟德尔随机化研究

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research Pub Date : 2025-09-05 DOI:10.1002/bdr2.2524

Daniel Linares, Qun Miao, Beatriz Luna

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引用次数: 0

摘要

传统的观察性研究表明，社会经济地位（SES）可能影响先天性异常的风险；然而，由于残留的混淆，其关联仍不清楚。本研究采用孟德尔随机化（MR）方法探讨SES指标与特定先天性异常之间的潜在因果关系。方法采用两样本磁共振分析，探讨ses的三个指标——受教育程度、家庭收入和汤森剥夺指数——是否与重大先天性异常的风险有关。与这些SES指标相关的遗传变异来自MRC综合流行病学单位（IEU） OpenGWAS数据库，基于UK Biobank数据。与九类先天性异常的遗传关联来源于FinnGen研究。主要MR方法是反方差加权（IVW），采用敏感性分析和Bonferroni校正来解释多重检验。结果在校正多重测试之前，较高的教育程度与先天性心脏缺陷（CHDs）（OR = 0.60, 95% CI: 0.41-0.88; p = 0.001）、先天性呼吸系统畸形（OR = 0.20, 95% CI: 0.06-0.62; p = 0.005）和肌肉骨骼畸形（OR = 0.47, 95% CI: 0.29-0.76; p = 0.002）的风险降低相关。汤森剥夺指数越低，先天性消化道异常的风险越高（OR = 4.53, 95% CI: 1.10-18.63; p = 0.036）。然而，经Bonferroni校正后，只有受教育程度与冠心病之间的关系仍然显著（调整p = 0.02）。结论：我们发现有限的证据表明SES与先天性异常之间存在关联。在多次测试校正后，只有较高的教育程度与降低冠心病风险显著相关。需要用更精确的方法进行进一步的研究来澄清这些关联。

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Association Between Socioeconomic Status and Major Congenital Anomalies: A Two-Sample Mendelian Randomization Study

Background

Traditional observational studies suggest that socioeconomic status (SES) may influence the risk of congenital anomalies; however, an association remains unclear due to residual confounding. This study used Mendelian randomization (MR) to explore the potential causal relationship between SES indicators and specific congenital anomalies.

Methods

We performed two-sample MR analyses to explore whether three indicators of SES—educational attainment, household income, and the Townsend Deprivation Index—have a relationship with the risk of major congenital anomalies. Genetic variants associated with these SES indicators were obtained from the MRC Integrative Epidemiology Unit (IEU) OpenGWAS database, based on UK Biobank data. Genetic associations with nine categories of congenital anomalies were sourced from the FinnGen study. The primary MR method was inverse-variance weighted (IVW), with sensitivity analyses and Bonferroni correction applied to account for multiple testing.

Results

Prior to correction for multiple testing, higher educational attainment was associated with reduced risk of congenital heart defects (CHDs) (OR = 0.60, 95% CI: 0.41–0.88; p = 0.001), congenital respiratory system malformations (OR = 0.20, 95% CI: 0.06–0.62; p = 0.005), and musculoskeletal malformations (OR = 0.47, 95% CI: 0.29–0.76; p = 0.002). A lower Townsend Deprivation Index was unexpectedly associated with a higher risk of congenital digestive tract anomalies (OR = 4.53, 95% CI: 1.10–18.63; p = 0.036). However, after Bonferroni correction, only the association between educational attainment and CHDs remained significant (adjusted p = 0.02).

Conclusions

We found limited evidence on the association between SES and congenital anomalies. Only higher educational attainment was significantly associated with reduced risk of CHDs after multiple testing correction. Further research with refined methods is needed to clarify these associations.

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来源期刊

Birth Defects Research Medicine-Embryology

CiteScore

3.60

自引率

9.50%

发文量

153

期刊介绍： The journal Birth Defects Research publishes original research and reviews in areas related to the etiology of adverse developmental and reproductive outcome. In particular the journal is devoted to the publication of original scientific research that contributes to the understanding of the biology of embryonic development and the prenatal causative factors and mechanisms leading to adverse pregnancy outcomes, namely structural and functional birth defects, pregnancy loss, postnatal functional defects in the human population, and to the identification of prenatal factors and biological mechanisms that reduce these risks. Adverse reproductive and developmental outcomes may have genetic, environmental, nutritional or epigenetic causes. Accordingly, the journal Birth Defects Research takes an integrated, multidisciplinary approach in its organization and publication strategy. The journal Birth Defects Research contains separate sections for clinical and molecular teratology, developmental and reproductive toxicology, and reviews in developmental biology to acknowledge and accommodate the integrative nature of research in this field. Each section has a dedicated editor who is a leader in his/her field and who has full editorial authority in his/her area.