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J Perinatol. 2013 May;33(5):336-40. doi: 10.1038/jp.2012.118. Epub 2012 Sep 27.

Polymorphisms in the fetal progesterone receptor and a calcium-activated potassium channel isoform are associated with preterm birth in an Argentinian population.

Author information

1
Department of Pediatrics, University of Iowa, Iowa City, IA 52242-1181, USA.

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.

PMID:
23018797
PMCID:
PMC3719965
DOI:
10.1038/jp.2012.118
[Indexed for MEDLINE]
Free PMC Article
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