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

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

Journal article

Open access

Peer reviewed

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, …

Reproductive sciences (Thousand Oaks, Calif.), Vol.18(3), pp.286-295

03/2011

DOI: 10.1177/1933719110391277

PMCID: PMC3053422

PMID: 21266667

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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.

Pregnancy

Polymerase Chain Reaction

Premature Birth - genetics

Small-Conductance Calcium-Activated Potassium Channels - genetics

Humans

Genotype

Male

DNA - genetics

DNA - chemistry

Infant, Premature

Female

Polymorphism, Single Nucleotide

Infant, Newborn

Details

Title: Subtitle: Single-nucleotide polymorphisms in the KCNN3 gene associate with preterm birth
Creators: Lori J Day - 1Department of Obstetrics and Gynecology, University of Iowa Carver College of Medicine, Iowa City, IA, USA
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
Resource Type: Journal article
Publication Details: Reproductive sciences (Thousand Oaks, Calif.), Vol.18(3), pp.286-295
DOI: 10.1177/1933719110391277
PMID: 21266667
PMCID: PMC3053422
NLM abbreviation: Reprod Sci
ISSN: 1933-7205
eISSN: 1933-7205
Publisher: United States
Grant note: T32 HL-007638-24 / NHLBI NIH HHS HD-052953 / NICHD NIH HHS HD-057192 / NICHD NIH HHS R01 HD052953 / NICHD NIH HHS R01 HD037831-11 / NICHD NIH HHS T32 HL007638 / NHLBI NIH HHS HD-037831 / NICHD NIH HHS R01 HD057192 / NICHD NIH HHS UL1 RR024979 / NCRR NIH HHS T32 HL 07638-23 / NHLBI NIH HHS R01 HD037831 / NICHD NIH HHS
Language: English
Date published: 03/2011
Academic Unit: Molecular Physiology and Biophysics; Anatomy and Cell Biology; International Programs; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Nursing; Public Policy Center (Archive); Biochemistry and Molecular Biology; Dental Research; Neonatology
Record Identifier: 9983995129802771

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