title: Polymorphisms in the fetal progesterone receptor and a calcium-activated potassium channel isoform are associated with preterm birth in an Argentinian population.
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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Pediatrics, University of Iowa, Iowa City, IA 52242-1181, USA.
authors.forename: P C
authors.initials: PC
authors.lastname: Mann
authors.forename: M E
authors.initials: ME
authors.lastname: Cooper
authors.forename: K K
authors.initials: KK
authors.lastname: Ryckman
authors.forename: B
authors.initials: B
authors.lastname: Comas
authors.forename: J
authors.initials: J
authors.lastname: Gili
authors.forename: S
authors.initials: S
authors.lastname: Crumley
authors.forename: E N A
authors.initials: EN
authors.lastname: Bream
authors.forename: H M
authors.initials: HM
authors.lastname: Byers
authors.forename: T
authors.initials: T
authors.lastname: Piester
authors.forename: A
authors.initials: A
authors.lastname: Schaefer
authors.forename: P J
authors.initials: PJ
authors.lastname: Christine
authors.forename: A
authors.initials: A
authors.lastname: Lawrence
authors.forename: K L
authors.initials: KL
authors.lastname: Schaa
authors.forename: K J P
authors.initials: KJ
authors.lastname: Kelsey
authors.forename: S K
authors.initials: SK
authors.lastname: Berends
authors.forename: A M
authors.initials: AM
authors.lastname: Momany
authors.forename: E
authors.initials: E
authors.lastname: Gadow
authors.forename: V
authors.initials: V
authors.lastname: Cosentino
authors.forename: E E
authors.initials: EE
authors.lastname: Castilla
authors.forename: J
authors.initials: J
authors.lastname: López Camelo
authors.forename: C
authors.initials: C
authors.lastname: Saleme
authors.forename: L J
authors.initials: LJ
authors.lastname: Day
authors.forename: S K
authors.initials: SK
authors.lastname: England
authors.forename: M L
authors.initials: ML
authors.lastname: Marazita
authors.forename: J M
authors.initials: JM
authors.lastname: Dagle
authors.forename: J C
authors.initials: JC
authors.lastname: Murray
mesh_terms: D001118:Argentina; D004272:DNA, Mitochondrial; D005260:Female; D005333:Fetus; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007199:Indians, South American / Q000235:genetics; D007231:Infant, Newborn; D008297:Male; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D024681:Potassium Channels, Calcium-Activated / Q000235:genetics*; D047928:Premature Birth / Q000235:genetics*; D020033:Protein Isoforms; D011980:Receptors, Progesterone / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial; D024681:Potassium Channels, Calcium-Activated; D020033:Protein Isoforms; D011980:Receptors, Progesterone