Division of Hematology-Oncology, David Geffen School of Medicine, Jonsson Comprehensive Cancer Center, University of California at Los Angeles, Los Angeles, CA, 90095, USA.
Department of Maternal-Fetal Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, 90033, USA.
Nat Commun. 2018 Mar 21;9(1):1178. doi: 10.1038/s41467-018-03258-0.
Hyperemesis gravidarum (HG), severe nausea and vomiting of pregnancy, occurs in 0.3-2% of pregnancies and is associated with maternal and fetal morbidity. The cause of HG remains unknown, but familial aggregation and results of twin studies suggest that understanding the genetic contribution is essential for comprehending the disease etiology. Here, we conduct a genome-wide association study (GWAS) for binary (HG) and ordinal (severity of nausea and vomiting) phenotypes of pregnancy complications. Two loci, chr19p13.11 and chr4q12, are genome-wide significant (p < 5 × 10) in both association scans and are replicated in an independent cohort. The genes implicated at these two loci are GDF15 and IGFBP7 respectively, both known to be involved in placentation, appetite, and cachexia. While proving the casual roles of GDF15 and IGFBP7 in nausea and vomiting of pregnancy requires further study, this GWAS provides insights into the genetic risk factors contributing to the disease.
妊娠剧吐（HG），即严重的妊娠恶心和呕吐，在 0.3-2%的妊娠中发生，并与母婴发病率有关。HG 的病因仍不清楚，但家族聚集和双胞胎研究的结果表明，了解遗传贡献对于理解疾病病因至关重要。在这里，我们对妊娠并发症的二项（HG）和有序（恶心和呕吐的严重程度）表型进行全基因组关联研究（GWAS）。两个位点 chr19p13.11 和 chr4q12 在两个关联扫描中均达到全基因组显著水平（p<5×10），并且在独立队列中得到复制。这两个位点涉及的基因分别是 GDF15 和 IGFBP7，它们都已知与胎盘形成、食欲和恶病质有关。虽然证明 GDF15 和 IGFBP7 在妊娠恶心和呕吐中的因果作用需要进一步研究，但这项 GWAS 提供了对导致该疾病的遗传风险因素的深入了解。
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