Abstract
Objective:
To investigate genetic etiologies of preterm birth (PTB) in Argentina through evaluation of single-nucleotide polymorphisms (SNPs) in candidate genes and population genetic admixture.
Study Design:
Genotyping was performed in 389 families. Maternal, paternal and fetal effects were studied separately. Mitochondrial DNA (mtDNA) was sequenced in 50 males and 50 females. Y-chromosome anthropological markers were evaluated in 50 males.
Result:
Fetal association with PTB was found in the progesterone receptor (PGR, rs1942836; P=0.004). Maternal association with PTB was found in small conductance calcium activated potassium channel isoform 3 (KCNN3, rs883319; P=0.01). Gestational age associated with PTB in PGR rs1942836 at 32–36 weeks (P=0.0004). MtDNA sequencing determined 88 individuals had Amerindian consistent haplogroups. Two individuals had Amerindian Y-chromosome consistent haplotypes.
Conclusion:
This study replicates single locus fetal associations with PTB in PGR, maternal association in KCNN3, and demonstrates possible effects for divergent racial admixture on PTB.
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Acknowledgements
We wish to express our gratitude to the Argentine families who participated in this study and the extraordinary efforts by the coordinating medical staff in Tucuman. Financial support for this investigation was provided through the March of Dimes Birth Defects Foundation (grants 1-FY05-126, 6-FY08-260 and 21-FY10-180) and the NIH (grants R01 HD-52953, HD-57192 and 1U01 HG-004423). Dr. Mann’s fellowship has been supported by an NIH T-32 training grant (5T32 HL07638-23).
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Mann, P., Cooper, M., Ryckman, K. et al. Polymorphisms in the fetal progesterone receptor and a calcium-activated potassium channel isoform are associated with preterm birth in an Argentinian population. J Perinatol 33, 336–340 (2013). https://doi.org/10.1038/jp.2012.118
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DOI: https://doi.org/10.1038/jp.2012.118
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