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

Paul 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 & 6 others C. Saleme, L. J. Day, S. K. England, M. L. Marazita, J. M. Dagle, J. C. Murray

Research output: Contribution to journalArticle

13 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)336-340
Number of pages5
JournalJournal of Perinatology
Volume33
Issue number5
DOIs
StatePublished - Apr 1 2013

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Calcium-Activated Potassium Channels
Premature Birth
Progesterone Receptors
Protein Isoforms
Population
Y Chromosome
Mothers
Small-Conductance Calcium-Activated Potassium Channels
Anthropology
Argentina
Population Genetics
Mitochondrial DNA
Genetic Markers
Haplotypes
Gestational Age
Single Nucleotide Polymorphism
Genes

Keywords

  • KCNN3
  • genetic admixture
  • genetic association study
  • hispanic
  • prematurity
  • progesterone receptor

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Obstetrics and Gynecology

Cite this

Polymorphisms in the fetal progesterone receptor and a calcium-activated potassium channel isoform are associated with preterm birth in an Argentinian population. / Mann, Paul C; Cooper, M. E.; Ryckman, K. K.; Comas, B.; Gili, J.; Crumley, S.; Bream, E. N A; Byers, H. M.; Piester, T.; Schaefer, A.; Christine, P. J.; Lawrence, A.; Schaa, K. L.; Kelsey, K. J P; Berends, S. K.; Momany, A. M.; Gadow, E.; Cosentino, V.; Castilla, E. E.; López Camelo, J.; Saleme, C.; Day, L. J.; England, S. K.; Marazita, M. L.; Dagle, J. M.; Murray, J. C.

In: Journal of Perinatology, Vol. 33, No. 5, 01.04.2013, p. 336-340.

Research output: Contribution to journalArticle

Mann, PC, Cooper, ME, Ryckman, KK, Comas, B, Gili, J, Crumley, S, Bream, ENA, Byers, HM, Piester, T, Schaefer, A, Christine, PJ, Lawrence, A, Schaa, KL, Kelsey, KJP, Berends, SK, Momany, AM, Gadow, E, Cosentino, V, Castilla, EE, López Camelo, J, Saleme, C, Day, LJ, England, SK, Marazita, ML, Dagle, JM & Murray, JC 2013, 'Polymorphisms in the fetal progesterone receptor and a calcium-activated potassium channel isoform are associated with preterm birth in an Argentinian population', Journal of Perinatology, vol. 33, no. 5, pp. 336-340. https://doi.org/10.1038/jp.2012.118
Mann, Paul C ; Cooper, M. E. ; Ryckman, K. K. ; Comas, B. ; Gili, J. ; Crumley, S. ; Bream, E. N A ; Byers, H. M. ; Piester, T. ; Schaefer, A. ; Christine, P. J. ; Lawrence, A. ; Schaa, K. L. ; Kelsey, K. J P ; Berends, S. K. ; Momany, A. M. ; Gadow, E. ; Cosentino, V. ; Castilla, E. E. ; López Camelo, J. ; Saleme, C. ; Day, L. J. ; England, S. K. ; Marazita, M. L. ; Dagle, J. M. ; Murray, J. C. / Polymorphisms in the fetal progesterone receptor and a calcium-activated potassium channel isoform are associated with preterm birth in an Argentinian population. In: Journal of Perinatology. 2013 ; Vol. 33, No. 5. pp. 336-340.
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AU - Mann, Paul C

AU - Cooper, M. E.

AU - Ryckman, K. K.

AU - Comas, B.

AU - Gili, J.

AU - Crumley, S.

AU - Bream, E. N A

AU - Byers, H. M.

AU - Piester, T.

AU - Schaefer, A.

AU - Christine, P. J.

AU - Lawrence, A.

AU - Schaa, K. L.

AU - Kelsey, K. J P

AU - Berends, S. K.

AU - Momany, A. M.

AU - Gadow, E.

AU - Cosentino, V.

AU - Castilla, E. E.

AU - López Camelo, J.

AU - Saleme, C.

AU - Day, L. J.

AU - England, S. K.

AU - Marazita, M. L.

AU - Dagle, J. M.

AU - Murray, J. C.

PY - 2013/4/1

Y1 - 2013/4/1

N2 - 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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