Referenced in: none

Automatically associated channels: Kir6.2 , SK3

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

Authors: 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

Journal, date & volume: Reprod Sci, 2011 Mar , 18, 286-95

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/21266667

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.