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

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 CameloC. Saleme, L. J. Day, S. K. England, M. L. Marazita, J. M. Dagle, J. C. Murray

Research output: Contribution to journal › Article › peer-review

20 Scopus citations

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 language	English (US)
Pages (from-to)	336-340
Number of pages	5
Journal	Journal of Perinatology
Volume	33
Issue number	5
DOIs	https://doi.org/10.1038/jp.2012.118
State	Published - Apr 2013
Externally published	Yes

Keywords

KCNN3
genetic admixture
genetic association study
hispanic
prematurity
progesterone receptor

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Obstetrics and Gynecology

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10.1038/jp.2012.118

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Mann, P. 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., ... Murray, J. C. (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, 33(5), 336-340. https://doi.org/10.1038/jp.2012.118

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

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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.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.",

keywords = "KCNN3, genetic admixture, genetic association study, hispanic, prematurity, progesterone receptor",

author = "Mann, {P. C.} and Cooper, {M. E.} and Ryckman, {K. K.} and B. Comas and J. Gili and S. Crumley and Bream, {E. N.A.} and Byers, {H. M.} and T. Piester and A. Schaefer and Christine, {P. J.} and A. Lawrence and Schaa, {K. L.} and Kelsey, {K. J.P.} and Berends, {S. K.} and Momany, {A. M.} and E. Gadow and V. Cosentino and Castilla, {E. E.} and {L{\'o}pez Camelo}, J. and C. Saleme and Day, {L. J.} and England, {S. K.} and Marazita, {M. L.} and Dagle, {J. M.} and Murray, {J. C.}",

note = "Funding Information: 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{\textquoteright}s fellowship has been supported by an NIH T-32 training grant (5T32 HL07638-23).",

year = "2013",

month = apr,

doi = "10.1038/jp.2012.118",

language = "English (US)",

volume = "33",

pages = "336--340",

journal = "Journal of Perinatology",

issn = "0743-8346",

publisher = "Nature Publishing Group",

number = "5",

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TY - JOUR

T1 - Polymorphisms in the fetal progesterone receptor and a calcium-activated potassium channel isoform are associated with preterm birth in an Argentinian population

AU - Mann, P. 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.

N1 - Funding Information: 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).

PY - 2013/4

Y1 - 2013/4

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.

AB - 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.

KW - KCNN3

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KW - genetic association study

KW - hispanic

KW - prematurity

KW - progesterone receptor

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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

Abstract

Keywords

ASJC Scopus subject areas

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