Abstract
Background and aims: Up to 40% of preterm deliveries (PTDs) may have a genetic component. PTD inheritance patterns are consistent with maternal genotype effects, fetal genotype effects via maternally-derived alleles, or both. However, while many candidate genes have been proposed, no common genetic variant has yet been confirmed as contributing to PTD. A genome-wide association study (GWAS) of PTD has never before been undertaken. Consequently, our objective was to examine maternal and fetal genetic contributions to spontaneous PTD in a GWAS.
Methods: We selected 1,000 preterm (gestation < 37 weeks) mother-child pairs and 1,000 term (40-week gestation) pairs, all with spontaneous onset of delivery, from the Danish National Birth Cohort, and genotyped them using the Illumina Human660W-Quad BeadChip. We analyzed the effect of genotype (maternal and fetal separately) on PTD using case-control methods and also by treating gestational length as a quantitative trait. We further examined spontaneous PTD subtypes separately.
Results: While no SNP in either maternal or fetal genotype reached formal GWAS significance (p < 10−7) for PTD overall, 7 SNPs had p-values ≤ 10−6. SNPs mostly strongly associated with PTD were not in or near known candidate genes.
Conclusions: The GWAS approach allowed us to identify new chromosomal regions of potential importance to PTD etiology. Replication of promising SNPs in independent populations is underway to determine if any of our findings represent true positives and thereby potential new insights into the causes of PTD.
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Boyd, H., Feenstra, B., Geller, F. et al. 292 A Genome-Wide Association Study of Spontaneous Preterm Delivery. Pediatr Res 68 (Suppl 1), 150 (2010). https://doi.org/10.1203/00006450-201011001-00292
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DOI: https://doi.org/10.1203/00006450-201011001-00292