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Genome-wide association study of preterm birth and gestational age in a Japanese population
Human Genome Variation Pub Date : 2023-06-13 , DOI: 10.1038/s41439-023-00246-9
Keita Hasegawa 1, 2 , Natsuhiko Kumasaka 3 , Kazuhiko Nakabayashi 1 , Hiromi Kamura 1 , Kayoko Maehara 1, 4 , Yoshifumi Kasuga 2 , Kenichiro Hata 1, 5 , Mamoru Tanaka 2
Affiliation  

Preterm birth (PTB), defined as the birth of a baby at <37 weeks of gestation, is known to be the main cause of neonatal morbidity and mortality. Here, we report genetic associations between preterm birth and gestational age in a Japanese population. We conducted a genome-wide association study (GWAS) of 384 cases who delivered prematurely and 644 controls and considered gestational age as a quantitative trait in 1028 Japanese women. Unfortunately, we were unable to identify any significant variants associated with PTB or gestational age using the current sample. We also examined genetic associations previously reported in European populations and identified no associations, even with the genome-wide subthreshold (p value < 10–6). This data report aims to provide summary statistics of current GWASs on PTB in a Japanese population for future meta-analyses of genetics and PTB with larger sample sizes.



中文翻译:

日本人群早产和胎龄的全基因组关联研究

早产 (PTB) 定义为婴儿在妊娠 37 周内出生,已知是新生儿发病率和死亡率的主要原因。在这里,我们报告了日本人群中早产和胎龄之间的遗传关联。我们对 384 例早产病例和 644 例对照进行了全基因组关联研究 (GWAS),并将胎龄视为 1028 名日本女性的数量特征。不幸的是,我们无法使用当前样本识别与 PTB 或胎龄相关的任何重要变异。我们还检查了先前在欧洲人群中报告的遗传关联,发现没有关联,即使是全基因组亚阈值(p值 < 10 –6). 本数据报告旨在提供日本人群当前 PTB 的 GWAS 汇总统计数据,以便将来对更大样本量的遗传学和 PTB 进行荟萃分析。

更新日期:2023-06-13
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