Yue Shuoying, Su Meng, Zhang Zihao, Li Jing, Leng Junhong, Li Weiqin, Liu Jin, Zhang Tao, Qiao Yijuan, Yu Zhijie, Hu Gang, Ma Jun, Yang Xilin, Wang Hui
Department of Epidemiology and Biostatistics, School of Public Health, Tianjin Medical University, Tianjin, China.
Tianjin Key Laboratory of Environment, Nutrition and Public Health, Tianjin, China.
BMC Pregnancy Childbirth. 2025 Mar 25;25(1):347. doi: 10.1186/s12884-025-07418-1.
To test associations of cyclin-dependent kinase 5 regulatory subunit-associated protein 1-like 1 (CDKAL1) gene variants with the risk of adverse pregnancy outcome in Chinese women and whether the association was mediated by occurrence of gestational diabetes mellitus.
We organized a 1:1 age-matched study nested within a prospective cohort of pregnant women (207 pairs) established in urban Tianjin. Adverse pregnancy outcome was defined as a composite outcome of preterm birth, low birth weight or macrosomia. Logistic regression analyses were used to estimate associations of CDKAL1 gene variants with adverse pregnancy outcome and its components. The CDKAL1 genetic marker was defined as encompassing any of the identified susceptibility variants for adverse pregnancy outcome.
The CDKAL1 genetic marker was associated with the risk of adverse pregnancy outcome (OR: 2.51, 95%CI: 1.47, 4.28), low birth weight (OR: 19.80, 95%CI: 2.15, 182) and macrosomia (OR: 2.40, 95%CI: 1.17, 4.93), but not with preterm birth (P = 0.105) after adjusting for traditional risk factors. Further adjusting for gestational diabetes mellitus, the CDKAL1 genetic marker remained significantly associated with adverse pregnancy outcome, and the OR (95%CI) was 2.52 (1.48, 4.30).
The maternal CDKAL1 gene variants were associated with increased risk of adverse pregnancy outcome, low birth weight and macrosomia, independent of gestational diabetes mellitus. CDKAL1 gene might be a useful marker for identification of individuals at a particularly high risk of adverse pregnancy outcome in early pregnancy.
检测细胞周期蛋白依赖性激酶5调节亚基相关蛋白1样蛋白1（CDKAL1）基因变异与中国女性不良妊娠结局风险的相关性，以及该相关性是否由妊娠期糖尿病的发生介导。
我们在天津市区建立的前瞻性孕妇队列（207对）中组织了一项1:1年龄匹配的研究。不良妊娠结局定义为早产、低出生体重或巨大儿的复合结局。采用逻辑回归分析来估计CDKAL1基因变异与不良妊娠结局及其组成部分的相关性。CDKAL1基因标记被定义为包含任何已鉴定的不良妊娠结局易感性变异。
在调整传统风险因素后，CDKAL1基因标记与不良妊娠结局风险（比值比：2.51，95%置信区间：1.47，4.28）、低出生体重（比值比：19.80，95%置信区间：2.15，182）和巨大儿（比值比：2.40，95%置信区间：1.17，4.93）相关，但与早产无关（P = 0.105）。进一步调整妊娠期糖尿病后，CDKAL1基因标记仍与不良妊娠结局显著相关，比值比（95%置信区间）为2.52（1.48，4.30）。
母亲的CDKAL1基因变异与不良妊娠结局、低出生体重和巨大儿风险增加相关，且独立于妊娠期糖尿病。CDKAL1基因可能是在孕早期识别不良妊娠结局特别高风险个体的有用标记。
