X-chromosomal maternal and fetal SNPs and the risk of spontaneous preterm delivery in a Danish/Norwegian genome-wide association study.

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 examin...

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Main Authors: Solveig Myking, Heather A Boyd, Ronny Myhre, Bjarke Feenstra, Astanand Jugessur, Aase S Devold Pay, Ingrid H G Ostensen, Nils-Halvdan Morken, Tamara Busch, Kelli K Ryckman, Frank Geller, Per Magnus, Håkon K Gjessing, Mads Melbye, Bo Jacobsson, Jeffrey C Murray
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3628886?pdf=render
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author Solveig Myking
Heather A Boyd
Ronny Myhre
Bjarke Feenstra
Astanand Jugessur
Aase S Devold Pay
Ingrid H G Ostensen
Nils-Halvdan Morken
Tamara Busch
Kelli K Ryckman
Frank Geller
Per Magnus
Håkon K Gjessing
Mads Melbye
Bo Jacobsson
Jeffrey C Murray
author_facet Solveig Myking
Heather A Boyd
Ronny Myhre
Bjarke Feenstra
Astanand Jugessur
Aase S Devold Pay
Ingrid H G Ostensen
Nils-Halvdan Morken
Tamara Busch
Kelli K Ryckman
Frank Geller
Per Magnus
Håkon K Gjessing
Mads Melbye
Bo Jacobsson
Jeffrey C Murray
author_sort Solveig Myking
collection DOAJ
description 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.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.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.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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spelling doaj.art-f096112608f94eaab242839349a755912022-12-21T18:44:32ZengPublic Library of Science (PLoS)PLoS ONE1932-62032013-01-0184e6178110.1371/journal.pone.0061781X-chromosomal maternal and fetal SNPs and the risk of spontaneous preterm delivery in a Danish/Norwegian genome-wide association study.Solveig MykingHeather A BoydRonny MyhreBjarke FeenstraAstanand JugessurAase S Devold PayIngrid H G OstensenNils-Halvdan MorkenTamara BuschKelli K RyckmanFrank GellerPer MagnusHåkon K GjessingMads MelbyeBo JacobssonJeffrey C MurrayRecent 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.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.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.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.http://europepmc.org/articles/PMC3628886?pdf=render
spellingShingle Solveig Myking
Heather A Boyd
Ronny Myhre
Bjarke Feenstra
Astanand Jugessur
Aase S Devold Pay
Ingrid H G Ostensen
Nils-Halvdan Morken
Tamara Busch
Kelli K Ryckman
Frank Geller
Per Magnus
Håkon K Gjessing
Mads Melbye
Bo Jacobsson
Jeffrey C Murray
X-chromosomal maternal and fetal SNPs and the risk of spontaneous preterm delivery in a Danish/Norwegian genome-wide association study.
PLoS ONE
title X-chromosomal maternal and fetal SNPs and the risk of spontaneous preterm delivery in a Danish/Norwegian genome-wide association study.
title_full X-chromosomal maternal and fetal SNPs and the risk of spontaneous preterm delivery in a Danish/Norwegian genome-wide association study.
title_fullStr X-chromosomal maternal and fetal SNPs and the risk of spontaneous preterm delivery in a Danish/Norwegian genome-wide association study.
title_full_unstemmed X-chromosomal maternal and fetal SNPs and the risk of spontaneous preterm delivery in a Danish/Norwegian genome-wide association study.
title_short X-chromosomal maternal and fetal SNPs and the risk of spontaneous preterm delivery in a Danish/Norwegian genome-wide association study.
title_sort x chromosomal maternal and fetal snps and the risk of spontaneous preterm delivery in a danish norwegian genome wide association study
url http://europepmc.org/articles/PMC3628886?pdf=render
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