Supplementary Material for: Fetal High-Risk APOL1 Genotype Increases Risk for Small for Gestational Age in Term Infants Affected by Preeclampsia.

Background: Hypertensive disorders of pregnancy cause fetal growth restriction and increased maternal morbidity and mortality, especially in women of African ancestry. Recently, preeclampsia (PE) risk was linked with African polymorphisms in the Apolipoprotein L1 (APOL1) gene. Objectives: We assessed the effect of APOL1 genotype on fetal growth outcomes of pregnancies with and without PE. Method: We conducted an unmatched case-control study of 1,358 mother-infant pairs from two independent cohorts of Black women. Results: Term PE cases with high-risk APOL1 genotypes were more likely to be small for gestational age compared to APOL1 low-risk term cases or APOL1 high-risk controls (odds ratios of 2.8 and 5.5, respectively). Among preterm cases, APOL1 genotype was associated with PE, significant for both recessive and additive inheritance patterns. Conclusions: Fetal APOL1 genotype was associated with PE in preterm infants but altered fetal growth in term infants indicating APOL1 genotype impacts conditions associated with placental insufficiency.

研究背景：妊娠高血压疾病可引发胎儿生长受限，并升高孕产妇的发病率与死亡率，在非洲裔女性群体中该风险尤为突出。近期研究表明，子痫前期（preeclampsia, PE）的发病风险与载脂蛋白L1（Apolipoprotein L1, APOL1）基因的非洲人群特异性多态性存在关联。
研究目的：本研究旨在评估APOL1基因型对伴或不伴子痫前期的妊娠胎儿生长结局的影响。
研究方法：本研究针对来自两个独立黑人女性队列的1358对母婴，开展了一项未匹配病例对照研究。
研究结果：相较于APOL1低风险足月妊娠病例组与APOL1高风险对照组，携带高风险APOL1基因型的足月子痫前期病例更易出现胎儿小于胎龄儿（small for gestational age, SGA）情况，对应的比值比分别为2.8和5.5。在早产病例中，APOL1基因型与子痫前期存在显著关联，该关联在隐性遗传与加性遗传两种遗传模式下均具有统计学意义。
研究结论：胎儿APOL1基因型与早产患儿的子痫前期发病相关，同时可改变足月胎儿的生长发育状态，提示APOL1基因型可影响与胎盘功能不全相关的妊娠结局。