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

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

doi:10.1371/journal.pone.0061781

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

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

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, …

PloS one, Vol.8(4), pp.e61781-e61781

2013

DOI: 10.1371/journal.pone.0061781

PMCID: PMC3628886

PMID: 23613933

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Abstract

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.

European Continental Ancestry Group - genetics

Genetic Predisposition to Disease - genetics

Premature Birth - genetics

Genes, X-Linked - genetics

Humans

Male

Premature Birth - epidemiology

Pregnancy

Young Adult

Adolescent

Polymorphism, Single Nucleotide - genetics

Adult

Female

Genome-Wide Association Study - methods

Infant, Newborn

Details

Title: Subtitle: X-chromosomal maternal and fetal SNPs and the risk of spontaneous preterm delivery in a Danish/Norwegian genome-wide association study
Creators: Solveig Myking - Department of Genes and Environment, Division of Epidemiology, Norwegian Institute of Public Health, Oslo, Norway
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
Resource Type: Journal article
Publication Details: PloS one, Vol.8(4), pp.e61781-e61781
DOI: 10.1371/journal.pone.0061781
PMID: 23613933
PMCID: PMC3628886
NLM abbreviation: PLoS One
ISSN: 1932-6203
eISSN: 1932-6203
Publisher: Public Library of Science; United States
Grant note: P30 ES005605 / NIEHS NIH HHS 05 ES236011 / NIEHS NIH HHS 1 UO1 NS 047537-01 / NINDS NIH HHS HD52953 / NICHD NIH HHS U01HG004438 / NHGRI NIH HHS 268200782096C / PHS HHS N0-ES-75558 / NIEHS NIH HHS U01 HG004446 / NHGRI NIH HHS U01HG04424 / NHGRI NIH HHS HD57192 / NICHD NIH HHS
Language: English
Date published: 2013
Academic Unit: Anatomy and Cell Biology; International Programs; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Nursing; Public Policy Center (Archive); Dental Research
Record Identifier: 9983996065402771

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