期刊
PLOS ONE
卷 8, 期 4, 页码 -出版社
PUBLIC LIBRARY SCIENCE
DOI: 10.1371/journal.pone.0061781
关键词
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资金
- National Institutes of Health (NIH) [HD52953, HD57192]
- Danish National Research Foundation
- Danish Pharmacists' Fund
- Egmont Foundation
- March of Dimes Birth Defects Foundation
- Augustinus Foundation
- Health Fund of the Danish Health Insurance Societies
- Gene Environment Association Studies (GENEVA) under GEI
- Danish Medical Research Council
- Lundbeck Foundation
- GENEVA Coordinating Center [U01 HG004446]
- NIH GEI [U01HG004438, U01HG04424]
- NIH contract High throughput genotyping for studying the genetic contributions to human disease [HHSN268200782096C]
- Norwegian Ministry of Health
- Ministry of Education and Research
- NIH/NIEHS [NO-ES-75558]
- NIH/NINDS [1 UO1 NS 047537-01]
- Norwegian Research Council/FUGE [151918/S10]
- Norwegian Research Council [FUGE 183220/S10, FRIMEDKLI-05 ES236011]
- Swedish government [ALFGBG-136431]
- Sahlgrenska University Hospital, Sahlgrenska Academy, Gothenburg, Sweden
- Swedish Medical Society, Stockholm, Sweden [2008-21198]
- Jane and Dan Olsson Research Foundation, Gothenburg, Sweden
Background: Recent epidemiological studies suggest that the maternal genome is an important contributor to spontaneous preterm delivery (PTD). There is also a significant excess of males among preterm born infants, which may imply an X-linked mode of inheritance for a subset of cases. To explore this, we examined the effect of maternal and fetal X-chromosomal single nucleotide polymorphisms (SNPs) on the risk of PTD in two independent genome-wide association studies and one replication study. Methods: Participants were recruited from the Danish National Birth Cohort and the Norwegian Mother and Child cohort studies. Data from these two populations were first analyzed independently, and then combined in a meta-analysis. Overall, we evaluated 12,211 SNPs in 1,535 case-mother dyads and 1,487 control-mother dyads. Analyses were done using a hybrid design that combines case-mother dyads and control-mother dyads, as implemented in the Haplin statistical software package. A sex-stratified analysis was performed for the fetal SNPs. In the replication study, 10 maternal and 16 fetal SNPs were analyzed using case-parent triads from independent studies of PTD in the United States, Argentina and Denmark. Results: In the meta-analysis, the G allele at the maternal SNP rs2747022 in the FERM domain containing 7 gene (FRMD7) increased the risk of spontaneous PTD by 1.2 (95% confidence interval (CI): 1.1, 1.4). Although an association with this SNP was confirmed in the replication study, it was no longer statistically significant after a Bonferroni correction for multiple testing. Conclusion: We did not find strong evidence in our data to implicate X-chromosomal SNPs in the etiology of spontaneous PTD. Although non-significant after correction for multiple testing, the mother's G allele at rs2747022 in FRMD7 increased the risk of spontaneous PTD across all populations in this study, thus warranting further investigation in other populations.
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