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

P C Mann; M E Cooper; K K Ryckman; B Comas; J Gili; S Crumley; E N A Bream; H M Byers; T Piester; A Schaefer; P J Christine; A Lawrence; K L Schaa; K J P Kelsey; S K Berends; A M Momany; E Gadow; V Cosentino; E E Castilla; J López Camelo; C Saleme; L J Day; S K England; M L Marazita; J M Dagle; J C Murray

doi:10.1038/jp.2012.118

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

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

P C Mann, M E Cooper, K K Ryckman, B Comas, J Gili, S Crumley, E N A Bream, H M Byers, T Piester, A Schaefer, …

Journal of perinatology, Vol.33(5), pp.336-340

05/2013

DOI: 10.1038/jp.2012.118

PMCID: PMC3719965

PMID: 23018797

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Abstract

To investigate genetic etiologies of preterm birth (PTB) in Argentina through evaluation of single-nucleotide polymorphisms (SNPs) in candidate genes and population genetic admixture. 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. 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. 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.

Argentina

European Continental Ancestry Group - genetics

Genetic Predisposition to Disease

Premature Birth - genetics

Humans

DNA, Mitochondrial

Genotype

Male

Receptors, Progesterone - genetics

Potassium Channels, Calcium-Activated - genetics

Polymorphism, Genetic

Indians, South American - genetics

Protein Isoforms

Female

Fetus

Polymorphism, Single Nucleotide

Infant, Newborn

Details

Title: Subtitle: Polymorphisms in the fetal progesterone receptor and a calcium-activated potassium channel isoform are associated with preterm birth in an Argentinian population
Creators: P C Mann - Department of Pediatrics, University of Iowa, Iowa City, IA 52242-1181, USA
M E Cooper
K K Ryckman
B Comas
J Gili
S Crumley
E N A Bream
H M Byers
T Piester
A Schaefer
P J Christine
A Lawrence
K L Schaa
K J P Kelsey
S K Berends
A M Momany
E Gadow
V Cosentino
E E Castilla
J López Camelo
C Saleme
L J Day
S K England
M L Marazita
J M Dagle
J C Murray
Resource Type: Journal article
Publication Details: Journal of perinatology, Vol.33(5), pp.336-340
DOI: 10.1038/jp.2012.118
PMID: 23018797
PMCID: PMC3719965
NLM abbreviation: J Perinatol
ISSN: 0743-8346
eISSN: 1476-5543
Publisher: United States
Grant note: P30 ES005605 / NIEHS NIH HHS R01 HD052953 / NICHD NIH HHS R01 HD-52953 / NICHD NIH HHS T32 HL007638 / NHLBI NIH HHS R01 HD057192 / NICHD NIH HHS 5T32 HL07638-23 / NHLBI NIH HHS SDR 10-180 / HSRD VA UL1 TR000005 / NCATS NIH HHS U01 HG004423 / NHGRI NIH HHS 1U01 HG-004423 / NHGRI NIH HHS HD-57192 / NICHD NIH HHS
Language: English
Date published: 05/2013
Academic Unit: Pediatric Dentistry; Craniofacial Anomalies Research Center; Nursing; Biochemistry and Molecular Biology; Neonatology; Molecular Physiology and Biophysics; Anatomy and Cell Biology; International Programs; Stead Family Department of Pediatrics; Epidemiology; Iowa Neuroscience Institute; Public Policy Center (Archive); Dental Research
Record Identifier: 9983995169402771

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