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 journalArticlepeer-review

16 Scopus citations


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 languageEnglish
Pages (from-to)286-295
Number of pages10
JournalReproductive Sciences
Issue number3
StatePublished - Mar 2011


  • Ion channel
  • KCNN3
  • Preterm birth
  • SK3


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