Single-nucleotide polymorphisms in the KCNN3 gene associate with preterm birth

Lori J. Day; Kendra L. Schaa; Kelli K. Ryckman; Meg Cooper; John M. Dagle; Chin To Fong; Hyagriv N. Simhan; David C. Merrill; Mary L. Marazita; Jeffrey C. Murray; Sarah K. England

doi:10.1177/1933719110391277

Single-nucleotide polymorphisms in the KCNN3 gene associate with preterm birth

Lori J. Day, Kendra L. Schaa, Kelli K. Ryckman, Meg Cooper, John M. Dagle, Chin To Fong, Hyagriv N. Simhan, David C. Merrill, Mary L. Marazita, Jeffrey C. Murray, Sarah K. England

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

16 Scopus citations

Abstract

The objectives were to determine whether single-nucleotide polymorphisms (SNPs) in KCNN3 (encodes the small conductance calcium-activated potassium channel subfamily N, member 3), associate with preterm birth (PTB). In all, 602 preterm families with at least 1 preterm (<37 weeks gestation) infant were studied: DNA from the infant and one or both parents were genotyped for 16 SNPs in KCNN3. A region of interest within KCNN3 was sequenced in 512 Caucasian non-Hispanic mothers (412 with preterm deliveries;100 who delivered at term). Family-based association testing was used for genotyping analysis; Fisher exact test was used for sequencing analysis. Six SNPs (rs1218585, rs4845396, rs12058931, rs1218568, rs6426985, and rs4845394) were associated with PTB (all Ps < .05). These variations were all located within the intronic region between exons 1 and 2. Maternal sequencing revealed an association of 3 SNPs with spontaneous PTB; rs1218585 (P = .007), rs1218584 (P = .05), and a novel SNP at chromosome1:153099353 (P = .02). Polymorphisms in KCNN3 are associated with PTB and investigation into the functional significance of these allelic changes is warranted.

Original language	English
Pages (from-to)	286-295
Number of pages	10
Journal	Reproductive Sciences
Volume	18
Issue number	3
DOIs	https://doi.org/10.1177/1933719110391277
State	Published - Mar 2011

Keywords

Ion channel
KCNN3
Preterm birth
SK3

Access to Document

10.1177/1933719110391277

Cite this

@article{aba81f1b8e0b45dab67cdd9101dcddf1,

title = "Single-nucleotide polymorphisms in the KCNN3 gene associate with preterm birth",

abstract = "The objectives were to determine whether single-nucleotide polymorphisms (SNPs) in KCNN3 (encodes the small conductance calcium-activated potassium channel subfamily N, member 3), associate with preterm birth (PTB). In all, 602 preterm families with at least 1 preterm (<37 weeks gestation) infant were studied: DNA from the infant and one or both parents were genotyped for 16 SNPs in KCNN3. A region of interest within KCNN3 was sequenced in 512 Caucasian non-Hispanic mothers (412 with preterm deliveries;100 who delivered at term). Family-based association testing was used for genotyping analysis; Fisher exact test was used for sequencing analysis. Six SNPs (rs1218585, rs4845396, rs12058931, rs1218568, rs6426985, and rs4845394) were associated with PTB (all Ps < .05). These variations were all located within the intronic region between exons 1 and 2. Maternal sequencing revealed an association of 3 SNPs with spontaneous PTB; rs1218585 (P = .007), rs1218584 (P = .05), and a novel SNP at chromosome1:153099353 (P = .02). Polymorphisms in KCNN3 are associated with PTB and investigation into the functional significance of these allelic changes is warranted.",

keywords = "Ion channel, KCNN3, Preterm birth, SK3",

author = "Day, {Lori J.} and Schaa, {Kendra L.} and Ryckman, {Kelli K.} and Meg Cooper and Dagle, {John M.} and Fong, {Chin To} and Simhan, {Hyagriv N.} and Merrill, {David C.} and Marazita, {Mary L.} and Murray, {Jeffrey C.} and England, {Sarah K.}",

note = "Funding Information: The authors disclosed receipt of the following financial support for the research and/or authorship of this article: March of Dimes (21-FY08-566) and NIH (HD-037831) to Sarah K England and NIH (HD-052953 and HD-057192), March of Dimes (FY06-575 and FY05-126) to Jeffrey C. Murray, NIH T32 training grant (HL-007638-24) to Kelli K Ryckman and NIH T32 training grant (HL 07638-23) to Lori J. Day.",

year = "2011",

month = mar,

doi = "10.1177/1933719110391277",

language = "English",

volume = "18",

pages = "286--295",

journal = "Reproductive Sciences",

issn = "1933-7191",

number = "3",

}

TY - JOUR

T1 - Single-nucleotide polymorphisms in the KCNN3 gene associate with preterm birth

AU - Day, Lori J.

AU - Schaa, Kendra L.

AU - Ryckman, Kelli K.

AU - Cooper, Meg

AU - Dagle, John M.

AU - Fong, Chin To

AU - Simhan, Hyagriv N.

AU - Merrill, David C.

AU - Marazita, Mary L.

AU - Murray, Jeffrey C.

AU - England, Sarah K.

N1 - Funding Information: The authors disclosed receipt of the following financial support for the research and/or authorship of this article: March of Dimes (21-FY08-566) and NIH (HD-037831) to Sarah K England and NIH (HD-052953 and HD-057192), March of Dimes (FY06-575 and FY05-126) to Jeffrey C. Murray, NIH T32 training grant (HL-007638-24) to Kelli K Ryckman and NIH T32 training grant (HL 07638-23) to Lori J. Day.

PY - 2011/3

Y1 - 2011/3

N2 - The objectives were to determine whether single-nucleotide polymorphisms (SNPs) in KCNN3 (encodes the small conductance calcium-activated potassium channel subfamily N, member 3), associate with preterm birth (PTB). In all, 602 preterm families with at least 1 preterm (<37 weeks gestation) infant were studied: DNA from the infant and one or both parents were genotyped for 16 SNPs in KCNN3. A region of interest within KCNN3 was sequenced in 512 Caucasian non-Hispanic mothers (412 with preterm deliveries;100 who delivered at term). Family-based association testing was used for genotyping analysis; Fisher exact test was used for sequencing analysis. Six SNPs (rs1218585, rs4845396, rs12058931, rs1218568, rs6426985, and rs4845394) were associated with PTB (all Ps < .05). These variations were all located within the intronic region between exons 1 and 2. Maternal sequencing revealed an association of 3 SNPs with spontaneous PTB; rs1218585 (P = .007), rs1218584 (P = .05), and a novel SNP at chromosome1:153099353 (P = .02). Polymorphisms in KCNN3 are associated with PTB and investigation into the functional significance of these allelic changes is warranted.

AB - The objectives were to determine whether single-nucleotide polymorphisms (SNPs) in KCNN3 (encodes the small conductance calcium-activated potassium channel subfamily N, member 3), associate with preterm birth (PTB). In all, 602 preterm families with at least 1 preterm (<37 weeks gestation) infant were studied: DNA from the infant and one or both parents were genotyped for 16 SNPs in KCNN3. A region of interest within KCNN3 was sequenced in 512 Caucasian non-Hispanic mothers (412 with preterm deliveries;100 who delivered at term). Family-based association testing was used for genotyping analysis; Fisher exact test was used for sequencing analysis. Six SNPs (rs1218585, rs4845396, rs12058931, rs1218568, rs6426985, and rs4845394) were associated with PTB (all Ps < .05). These variations were all located within the intronic region between exons 1 and 2. Maternal sequencing revealed an association of 3 SNPs with spontaneous PTB; rs1218585 (P = .007), rs1218584 (P = .05), and a novel SNP at chromosome1:153099353 (P = .02). Polymorphisms in KCNN3 are associated with PTB and investigation into the functional significance of these allelic changes is warranted.

KW - Ion channel

KW - KCNN3

KW - Preterm birth

KW - SK3

UR - http://www.scopus.com/inward/record.url?scp=79952517220&partnerID=8YFLogxK

U2 - 10.1177/1933719110391277

DO - 10.1177/1933719110391277

M3 - Article

C2 - 21266667

AN - SCOPUS:79952517220

SN - 1933-7191

VL - 18

SP - 286

EP - 295

JO - Reproductive Sciences

JF - Reproductive Sciences

IS - 3

ER -

Single-nucleotide polymorphisms in the KCNN3 gene associate with preterm birth

Abstract

Keywords

Access to Document

Other files and links

Fingerprint

Cite this